MCID: PSD047
MIFTS: 21

Pseudo-Turner Syndrome

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Pseudo-Turner Syndrome

MalaCards integrated aliases for Pseudo-Turner Syndrome:

Name: Pseudo-Turner Syndrome 52
Noonan Syndrome 71

Classifications:



External Ids:

UMLS 71 C0028326

Summaries for Pseudo-Turner Syndrome

MalaCards based summary : Pseudo-Turner Syndrome, also known as noonan syndrome, is related to noonan syndrome 1. The drugs Simvastatin and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes.

Related Diseases for Pseudo-Turner Syndrome

Diseases in the Turner Syndrome family:

Pseudo-Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies

Diseases related to Pseudo-Turner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 11.8

Symptoms & Phenotypes for Pseudo-Turner Syndrome

Drugs & Therapeutics for Pseudo-Turner Syndrome

Drugs for Pseudo-Turner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 26, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Hormone Antagonists Phase 3
3 Lipid Regulating Agents Phase 3
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
5 Hypolipidemic Agents Phase 3
6 Anticholesteremic Agents Phase 3
7 Antimetabolites Phase 3
8
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
9
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
10
Mecasermin Approved, Investigational Phase 2 68562-41-4
11 Hormones Phase 2
12 Sodium Channel Blockers Phase 2
13 Dihydromevinolin Phase 2
14 Psychotropic Drugs Phase 2
15 Antipsychotic Agents Phase 2
16 Diuretics, Potassium Sparing Phase 2
17 L 647318 Phase 2
18 Anticonvulsants Phase 2
19 Calcium, Dietary Phase 2
20 calcium channel blockers Phase 2
21 Natriuretic Peptide, C-Type Phase 2
22 Insulin, Globin Zinc Phase 2
23 Mitogens Phase 2
24 insulin Phase 2
25
Calcium Nutraceutical Phase 2 7440-70-2 271
26 Fluorides

Interventional clinical trials:

(showing 18, show less)
# Name Status NCT ID Phase Drugs
1 A 52-week, Multi-centre, Randomised, Double-blind, Parallel-group, no Treatment Controlled (Open-label) Trial Investigating the Efficacy and Safety of Two Doses of NN-220 in Short Stature With Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
2 Effect of the Growth Hormone MAXOMAT ® on the Growth of Small Children and Adolescents (<-2 SD) Due to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
3 Genetic Testing of Noonan Subjects Previously Treated With Norditropin® in the GHNOO-1658 Trial Completed NCT01529944 Phase 3 somatropin;somatropin
4 Norditropin Treatment in Subjects With Noonan Syndrome. Effects on Linear Growth and Final Height - Data Collection and Follow-up Visit Completed NCT01529840 Phase 3 somatropin;somatropin
5 Treatment With HMG-COA Reductase Inhibitor (Simvastatin) of Growth and Bone Abnormalities in Children With Noonan Syndrome: A Phase III Randomised, Double Blind, Placebo-controlled Therapeutic Trial Recruiting NCT02713945 Phase 3 Simvastatin;Placebo
6 Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
7 Vosoritide for Selected Genetic Causes of Short Stature Recruiting NCT04219007 Phase 2 Vosoritide
8 A Phase 2, Open-Label, Multicenter, Clinical Trial to Evaluate the Pharmacokinetics, Safety and Efficacy of Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 in Children With Growth Failure Due to Noonan Syndrome Terminated NCT00351221 Phase 2 rhIGF-1/rhIGFBP-3
9 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
10 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Unknown status NCT02486731
11 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
12 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
13 Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1 Completed NCT01058330
14 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
15 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
16 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
17 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Enrolling by invitation NCT03435627 Somatropin
18 Hematological Anomalies in Children With Rasopathy Not yet recruiting NCT04286360

Search NIH Clinical Center for Pseudo-Turner Syndrome

Genetic Tests for Pseudo-Turner Syndrome

Anatomical Context for Pseudo-Turner Syndrome

MalaCards organs/tissues related to Pseudo-Turner Syndrome:

40
Heart, Bone, Testes, Brain, Myeloid, Thyroid, Kidney

Publications for Pseudo-Turner Syndrome

Articles related to Pseudo-Turner Syndrome:

(showing 1598, show less)
# Title Authors PMID Year
1
Repeating or spacing learning sessions are strategies for memory improvement with shared molecular and neuronal components. 61
32360730 2020
2
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. 61
32233106 2020
3
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts. 61
32240795 2020
4
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. 61
32502478 2020
5
The Clinical impact of PTPN11 mutations in adults with acute myeloid leukemia. 61
32561839 2020
6
GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R. 61
32187889 2020
7
Warfarin-induced impairment of bone material quality in a patient undergoing maintenance hemodialysis: A case report. 61
32569210 2020
8
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation. 61
32112654 2020
9
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. 61
32476286 2020
10
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. 61
32558384 2020
11
New Features for Child Metrics: Further Growth References and Blood Pressure Calculations 61
31475511 2020
12
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. 61
32546215 2020
13
Personality and Psychopathology in Adults with Noonan Syndrome. 61
31560100 2020
14
Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report. 61
32065515 2020
15
KBG syndrome in two patients from Egypt. 61
32222090 2020
16
Melanoma in Noonan Syndrome With Multiple Lentigines (Leopard Syndrome): A New Case. 61
32531240 2020
17
Investigating the reason for loss-of-function of Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2) caused by Y279C mutation through molecular dynamics simulation. 61
31258001 2020
18
Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions. 61
32541138 2020
19
Noonan syndrome on the African Continent. 61
32558383 2020
20
The Noonan syndrome-associated D61G variant of the protein tyrosine phosphatase SHP2 prevents synaptic down-scaling. 61
32499374 2020
21
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro. 61
32493428 2020
22
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model? 61
32514133 2020
23
Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature. 61
32396283 2020
24
The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review. 61
32111381 2020
25
Growth hormone treatment at Nippon Medical School Chiba Hokusoh Hospital. 61
32475901 2020
26
Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency? 61
31301176 2020
27
The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking. 61
32175818 2020
28
Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia. 61
32144894 2020
29
Combined cardiac anomalies in Noonan syndrome: A case report. 61
32506025 2020
30
Young children with Noonan syndrome: evaluation of feeding problems. 61
32394265 2020
31
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report. 61
32357851 2020
32
Systolic anterior motion of the posterior mitral leaflet in obstructive hypertrophic cardiomyopathy with Noonan syndrome. 61
32462482 2020
33
[Noonan syndrome: genetic and clinical update and treatment options]. 61
32493603 2020
34
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. 61
32107864 2020
35
Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients. 61
32269181 2020
36
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. 61
31913576 2020
37
Mitral valve replacement and trans-mitral myectomy for a child with Noonan syndrome accompanied by hypertrophic obstructive cardiomyopathy. 61
30945161 2020
38
LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features. 61
32004086 2020
39
Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome. 61
32078254 2020
40
Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance. 61
32150461 2020
41
Defining language disorders in children and adolescents with Noonan Syndrome. 61
32059087 2020
42
Noonan Syndrome and Acute Myeloid Leukemia in Adults: The Importance of a Correct Multidisciplinary Approach during Childhood. 61
32155617 2020
43
Connecting the dots between SHP2 and glutamate receptors. 61
32140036 2020
44
Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood. 61
32135567 2020
45
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases. 61
31337872 2020
46
De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation. 61
31976149 2020
47
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 61
31088041 2020
48
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. 61
32022400 2020
49
[Clinical practice guidelines for Noonan syndrome]. 61
32128752 2020
50
Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish. 61
31883238 2020
51
Legius Syndrome and its Relationship with Neurofibromatosis Type 1. 61
32147744 2020
52
Dental and maxillofacial features of Noonan Syndrome: Case series of ten patients. 61
32113883 2020
53
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. 61
32164556 2020
54
Turner syndrome in diverse populations. 61
31854143 2020
55
A cellular target engagement assay for the characterization of SHP2 (PTPN11) phosphatase inhibitors. 61
31953320 2020
56
Design, synthesis, biological evaluation, common feature pharmacophore model and molecular dynamics simulation studies of ethyl 4-(phenoxymethyl)-2-phenylthiazole-5-carboxylate as Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2) inhibitors. 61
32036779 2020
57
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
58
Hypertrophic cardiomyopathy, long QT interval and coronary perforator disease in the Noonan syndrome. 61
31592851 2020
59
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy. 61
32054441 2020
60
Beta thalassemia major and Noonan syndrome - Two genetic disorders manifest in the blood film. 61
32112432 2020
61
Providing more evidence on LZTR1 variants in Noonan syndrome patients. 61
31825158 2020
62
[A case report of Noonan syndrome diagnosed in primary healthcare]. 61
32119651 2020
63
The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila. 61
32457793 2020
64
After 95 years, it's time to eRASe JMML. 61
31980238 2020
65
Development and structure-activity relationship study of SHP2 inhibitor containing 3,4,6-trihydroxy-5-oxo-5H-benzo[7]annulene. 61
31784318 2020
66
Proteomic Analysis of an Induced Pluripotent Stem Cell Model Reveals Strategies to Treat Juvenile Myelomonocytic Leukemia. 61
31657576 2020
67
Noonan Syndrome: Common Molecular Alterations and the Consequences. 61
32161186 2020
68
Unveiling the Molecular Basis of the Noonan Syndrome-Causing Mutation T42A of SHP2. 61
31936901 2020
69
NRAS associated RASopathy and embryonal rhabdomyosarcoma. 61
31697451 2020
70
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant. 61
32021610 2020
71
Surgical Repair of Peripheral Pulmonary Artery Stenosis in Patients Without Williams or Alagille Syndromes. 61
31958550 2020
72
Oligo-astrocytoma in LZTR1-related Noonan syndrome. 61
30664951 2020
73
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. 61
31584751 2019
74
Shp2 in myocytes is essential for cardiovascular and neointima development. 61
31634485 2019
75
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome. 61
31566897 2019
76
Catalytic dysregulation of SHP2 leading to Noonan syndromes affects platelet signaling and functions. 61
31562133 2019
77
The impact of RASopathy-associated mutations on CNS development in mice and humans. 61
31752929 2019
78
MRAS Variants Cause Cardiomyocyte Hypertrophy in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Additional Evidence for MRAS as a Definitive Noonan Syndrome-Susceptibility Gene. 61
31638832 2019
79
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype. 61
30761613 2019
80
Noonan syndrome-associated myeloproliferative disorder with somatically acquired monosomy 7: impact on clinical decision making. 61
31617209 2019
81
Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome. 61
31319646 2019
82
Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants. 61
31182298 2019
83
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. 61
31292302 2019
84
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. 61
31368652 2019
85
Treatment of Children With GH in the United States and Europe: Long-Term Follow-Up From NordiNet® IOS and ANSWER Program. 61
31305924 2019
86
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. 61
31219622 2019
87
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. 61
31560489 2019
88
Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy. 61
31737538 2019
89
Phenotype delineation of ZNF462 related syndrome. 61
31361404 2019
90
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. 61
31487937 2019
91
Structural basis of the atypical activation mechanism of KRASV14I. 61
31341022 2019
92
Sudden cardiac arrest in the field in an 18-year-old male athlete with Noonan syndrome: case presentation and 5-year follow-up. 61
31378211 2019
93
Noonan syndrome associated with anomalous left coronary artery from the pulmonary artery in a patient with the rare RAF1 mutation: A case report and review of literature. 61
31516287 2019
94
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. 61
31402090 2019
95
[PTPN11 and the deafness]. 61
31446698 2019
96
[Case report and diagnosis of Noonan syndrome with multiple lentigines with deafness as its main clinical feature]. 61
31446693 2019
97
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 61
31336229 2019
98
Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm. 61
31451008 2019
99
Cardiac transplantation in children with Noonan syndrome. 61
31259454 2019
100
Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis. 61
31471355 2019
101
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis. 61
31145547 2019
102
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 61
31059601 2019
103
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation. 61
31355539 2019
104
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 61
31173466 2019
105
SHOC2 complex-driven RAF dimerization selectively contributes to ERK pathway dynamics. 61
31213532 2019
106
PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention. 61
30059958 2019
107
Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome. 61
31163979 2019
108
Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. 61
30050098 2019
109
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome. 61
30514065 2019
110
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations. 61
31277675 2019
111
Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy. 61
30665336 2019
112
Noonan syndrome with multiple lentigines and prominent keratosis pilaris. 61
31210391 2019
113
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients. 61
30854769 2019
114
Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report. 61
31208451 2019
115
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. 61
30417923 2019
116
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong. 61
30896080 2019
117
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. 61
30410095 2019
118
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. 61
30908877 2019
119
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. 61
31130282 2019
120
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. 61
31130285 2019
121
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. 61
30859559 2019
122
ECG in noonan syndrome: beyond the "normal abnormalities". 61
30895763 2019
123
Impact of noonan syndrome on admissions for pediatric cardiac surgery. 61
31264394 2019
124
[Clinical and genetic analysis of a child with Noonan syndrome]. 61
31055812 2019
125
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas. 61
30843352 2019
126
Growth and Growth Hormone Treatment in Noonan Syndrome. 61
31115197 2019
127
Endocrine Complications of Noonan Syndrome beyond Short Stature. 61
31115198 2019
128
Imaging of central lymphatic abnormalities in Noonan syndrome. 61
30613845 2019
129
Molecular Genetics of Noonan Syndrome and RASopathies. 61
31115195 2019
130
Cardiac Manifestations of Noonan Syndrome. 61
31115199 2019
131
Occurrence of high-grade glioma in Noonan syndrome: Report of two cases. 61
30693642 2019
132
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. 61
30989250 2019
133
Diverticular Enlargement of Foramen of Luschka and Hydrocephalus in Child with Noonan Syndrome. 61
30822582 2019
134
Intranodal Lymphatic Embolization for Chylocolporrhea Caused by Chylous Reflux Syndrome in Noonan Syndrome. 61
31029393 2019
135
Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras. 61
31050682 2019
136
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition. 61
31047013 2019
137
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. 61
31108500 2019
138
Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report. 61
31125963 2019
139
Clinical Manifestations of Noonan Syndrome and Related Disorders. 61
31115194 2019
140
The History of Noonan Syndrome. 61
31115193 2019
141
Pathogenesis of Growth Failure in Rasopathies. 61
31115196 2019
142
Exploring the effect of N308D mutation on protein tyrosine phosphatase-2 cause gain-of-function activity by a molecular dynamics study. 61
30304563 2019
143
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning. 61
31017896 2019
144
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. 61
30898653 2019
145
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy. 61
30904604 2019
146
The ERK MAPK Pathway Is Essential for Skeletal Development and Homeostasis. 61
31013682 2019
147
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. 61
31030682 2019
148
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. 61
30784236 2019
149
Excitatory neuron-specific SHP2-ERK signaling network regulates synaptic plasticity and memory. 61
30837304 2019
150
Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. 61
30556322 2019
151
RIT1 oncoproteins escape LZTR1-mediated proteolysis. 61
30872527 2019
152
Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember. 61
30907043 2019
153
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 61
30481304 2019
154
M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration. 61
30808747 2019
155
Cardiac Arrest in a 31-Year-Old Man With Noonan Syndrome. 61
30700630 2019
156
Myelodysplastic syndrome with multilineage dysplasia evolving to acute myeloid leukemia: Noonan syndrome with c.218C>T mutation in PTPN11 gene. 61
30378271 2019
157
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. 61
29907801 2019
158
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. 61
30732632 2019
159
Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation. 61
30511597 2019
160
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. 61
30707178 2019
161
Skin Lesions Suggesting Type 2 Segmental Mosaicism in Noonan Syndrome. 61
30320868 2019
162
Treatment with Growth Hormone in Noonan Syndrome Observed during 25 Years of KIGS: Near Adult Height and Outcome Prediction. 61
30939478 2019
163
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome. 61
31132774 2019
164
Mechanical and structural analysis of the pulmonary valve in congenital heart defects: A presentation of two case studies. 61
30236979 2019
165
Identifying facial phenotypes of genetic disorders using deep learning. 61
30617323 2019
166
Noonan Syndrome in South Africa: Clinical and Molecular Profiles. 61
31057598 2019
167
Early Outcomes of Cardiac Surgery in Patients with Noonan Syndrome. 61
30576779 2019
168
Noonan syndrome from a fetopathologist perspective. 61
30939887 2019
169
Noonan syndrome: Severe phenotype and PTPN11 mutations. 61
29703613 2019
170
LZTR1: Genotype Expansion in Noonan Syndrome. 61
31533111 2019
171
Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype. 61
31324109 2019
172
A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome. 61
31637070 2019
173
Social cognitive training for adults with Noonan syndrome: a feasibility study. 61
30880986 2019
174
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. 61
30141192 2019
175
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes. 61
31798637 2019
176
RASopathy in Patients With Isolated Sagittal Synostosis. 61
31192281 2019
177
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. 61
30640061 2019
178
[Keratosis pilaris]. 61
31692799 2019
179
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. 61
29959388 2019
180
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 61
30368668 2019
181
First trimester cystic hygroma colli: Retrospective analysis in a tertiary center. 61
30321790 2018
182
MRAS: A Close but Understudied Member of the RAS Family. 61
29311130 2018
183
Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel. 61
30541462 2018
184
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 61
30442762 2018
185
[New insight of craniofacial and oral findings of the RASopathies]. 61
30522213 2018
186
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant. 61
30430033 2018
187
Long-term results of the modified Konno procedure in high-risk children with obstructive hypertrophic cardiomyopathy. 61
30104063 2018
188
Growth hormone therapy in patients with Noonan syndrome. 61
30599478 2018
189
Central xanthoma of the jaw in association with Noonan syndrome. 61
29727697 2018
190
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency. 61
30325180 2018
191
Exploring the effect of D61G mutation on SHP2 cause gain of function activity by a molecular dynamics study. 61
29125030 2018
192
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. 61
30079495 2018
193
A genome-wide analysis of colorectal cancer in a child with Noonan syndrome. 61
30039904 2018
194
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines. 61
30152106 2018
195
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. 61
30311384 2018
196
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. 61
30348783 2018
197
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). 61
30359267 2018
198
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing. 61
29945942 2018
199
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 61
29469822 2018
200
Cardiovascular disease in Noonan syndrome. 61
30024444 2018
201
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. 61
29924299 2018
202
Tetrad presentation of non-syndromic odontogenic keratocyst: An uphill diagnostic and therapeutic challenge. 61
30648369 2018
203
Encephalocraniocutaneous Lipomatosis. 61
29683947 2018
204
Off-target inhibition by active site-targeting SHP2 inhibitors. 61
30186742 2018
205
Phenotypic Screening Using Patient-Derived Induced Pluripotent Stem Cells Identified Pyr3 as a Candidate Compound for the Treatment of Infantile Hypertrophic Cardiomyopathy. 61
30101858 2018
206
Persistently elevated nuchal translucency and the fetal heart. 61
28614966 2018
207
Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications. 61
30236064 2018
208
Growth Hormone Treatment for Patients with Noonan Syndrome. 61
30378787 2018
209
Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. 61
30306082 2018
210
RAS signalling in energy metabolism and rare human diseases. 61
29750912 2018
211
Pathway networks generated from human disease phenome. 61
30255817 2018
212
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. 61
30240112 2018
213
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. 61
30157809 2018
214
[Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review]. 61
30078240 2018
215
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. 61
30055033 2018
216
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. 61
29948256 2018
217
Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function. 61
30089263 2018
218
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth. 61
29659837 2018
219
Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report. 61
30012129 2018
220
Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome. 61
29362165 2018
221
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. 61
29737035 2018
222
Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report. 61
30012103 2018
223
[LEOPARD syndrome: A variant of Noonan syndrome with lentigines]. 61
29571647 2018
224
Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results From a National Population-Based Study. 61
29490994 2018
225
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. 61
29988639 2018
226
RASopathies are associated with a distinct personality profile. 61
29659143 2018
227
Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1. 61
29914349 2018
228
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1. 61
29734338 2018
229
Somatic PTPN11 Mutation in a Child With Neuroblastoma and Protein Losing Enteropathy. 61
29189514 2018
230
Giant cell lesion of the jaw as a presenting feature of Noonan syndrome. 61
29848529 2018
231
Anatomical variations of the thymus in relation to the left brachiocephalic vein, findings of necropsia. 61
29501311 2018
232
DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report. 61
29642153 2018
233
First-year growth in children with Noonan syndrome: Associated with feeding problems? 61
29575624 2018
234
Mutation in the ADNP gene associated with Noonan syndrome features. 61
29424797 2018
235
Noonan syndrome with multiple lentigines and associated craniosynostosis. 61
29356064 2018
236
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 61
28957739 2018
237
Cognitive profile of a child with SOS1 mutation in Noonan syndrome. 61
26968820 2018
238
Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center. 61
29557107 2018
239
Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner. 61
29559584 2018
240
Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants. 61
29088344 2018
241
Novel approaches to diagnosis and treatment of Juvenile Myelomonocytic Leukemia. 61
29279013 2018
242
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. 61
29271604 2018
243
Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients. 61
29109363 2018
244
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. 61
29541661 2018
245
Neurocutaneous Disorders. 61
29432239 2018
246
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. 61
29394990 2018
247
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome. 61
29226542 2018
248
Noonan syndrome: an update on growth and development. 61
29120925 2018
249
Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice. 61
29538527 2018
250
An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure. 61
30294303 2018
251
The Landscape of Protein Tyrosine Phosphatase (Shp2) and Cancer. 61
30398108 2018
252
miR-195 inhibited abnormal activation of osteoblast differentiation in MC3T3-E1 cells via targeting RAF-1. 61
29197556 2018
253
Impaired neuronal maturation of hippocampal neural progenitor cells in mice lacking CRAF. 61
29590115 2018
254
Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome. 61
30631623 2018
255
Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. 61
29670795 2018
256
Spontaneous Keloids: A Literature Review. 61
30114700 2018
257
Psychopathological features in Noonan syndrome. 61
29037749 2018
258
Lymphangioma circumscriptum of the vulva in a patient with Noonan syndrome. 61
29232041 2018
259
Evaluation of bleeding disorders in patients with Noonan syndrome: a systematic review. 61
30464668 2018
260
Oskar Kobyliński (1856-1926) and the first description of Noonan syndrome in the medical literature. 61
29998749 2018
261
Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype. 61
28456002 2018
262
Patient with confirmed LEOPARD syndrome developing multiple melanoma. 61
29445579 2018
263
FOXI2: a possible gene contributing to ectodermal dysplasia. 61
29165300 2017
264
An approach to familial lymphoedema. 61
29196357 2017
265
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies. 61
28911804 2017
266
Development of disease-specific growth charts in Turner syndrome and Noonan syndrome. 61
29301184 2017
267
Increased Src Family Kinase Activity Disrupts Excitatory Synaptic Transmission and Impairs Remote Fear Memory in Forebrain Shp2-Deficient Mice. 61
27796759 2017
268
[Multiple granular cell tumours in a patient with Noonan's syndrome and juvenile myelomonocytic leukaemia]. 61
28728859 2017
269
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation. 61
28884940 2017
270
Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome. 61
29214238 2017
271
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. 61
28921562 2017
272
Breast reconstruction in a patient with Noonan syndrome. 61
29092974 2017
273
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. 61
28681392 2017
274
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines. 61
28911943 2017
275
Management of Cardiovascular Disorders in Patients with Noonan Syndrome: A Case Report. 61
29576787 2017
276
Mutation-Specific Mechanisms of Hyperactivation of Noonan Syndrome SOS Molecules Detected with Single-molecule Imaging in Living Cells. 61
29074966 2017
277
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. 61
28768581 2017
278
Pulmonary interstitial glycogenosis associated with a spectrum of neonatal pulmonary disorders. 61
28873355 2017
279
[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy]. 61
29050118 2017
280
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 61
29084544 2017
281
RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature. 61
28777121 2017
282
Successful cardiac transplantation outcomes in patients with adult congenital heart disease. 61
28258242 2017
283
Congenital heart disease and genetic syndromes: new insights into molecular mechanisms. 61
28745539 2017
284
Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism. 61
28914499 2017
285
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive. 61
28928975 2017
286
Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis? 61
28742629 2017
287
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing. 61
29025208 2017
288
eComment. Noonan syndrome and biventricular hypertrophic obstructive cardiomyopathy. 61
28859450 2017
289
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 61
28650561 2017
290
Noonan syndrome in diverse populations. 61
28748642 2017
291
Motor performance in children with Noonan syndrome. 61
28627718 2017
292
Noonan syndrome: lessons learned from genetically modified mouse models. 61
30058892 2017
293
Treatment of severe refractory valvar pulmonary stenosis with primary transcatheter pulmonary valve implantation. 61
28330516 2017
294
[Analysis of genomic copy number variations in 36 fetuses with heart malformations using next-generation sequencing]. 61
28777851 2017
295
Testing for Noonan syndrome after increased nuchal translucency. 61
28569377 2017
296
Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. 61
28607217 2017
297
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. 61
27925158 2017
298
Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses. 61
28760128 2017
299
Response to: Milosavljevic et al. "Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature". 61
28475286 2017
300
Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7. 61
28084675 2017
301
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis. 61
28680615 2017
302
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome. 61
28378436 2017
303
A case of splenomegaly in CBL syndrome. 61
28414188 2017
304
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. 61
28363362 2017
305
Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death. 61
28347726 2017
306
Improving Functional and Aesthetic Outcomes in Syndromic Patients With Webbed Neck Deformity: Utilizing a Staged Endoscopic-Assisted Approach to Improve the Posterior Hairline and Decrease Scar Burden. 61
28207470 2017
307
Genotype and phenotype spectrum of NRAS germline variants. 61
28594414 2017
308
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 61
28483241 2017
309
A review of craniofacial and dental findings of the RASopathies. 61
28643916 2017
310
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. 61
28620009 2017
311
Developmental Changes in Aortic Mechanical Properties in Normal Fetuses and Fetuses with Cardiovascular Disease. 61
27816335 2017
312
The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes. 61
28432141 2017
313
Noonan syndrome-associated SHP2 mutation differentially modulates the expression of postsynaptic receptors according to developmental maturation. 61
28366775 2017
314
Coagulation abnormalities and haemostatic surgical outcomes in 142 patients with Noonan syndrome. 61
28520208 2017
315
Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome. 61
28548091 2017
316
Hemorrhagic pseudotumors of iliac bones in Noonan syndrome: PET/CT imaging. 61
28029604 2017
317
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. 61
28371260 2017
318
Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway. 61
28160302 2017
319
[Update on the treatment of RASopathies]. 61
28524213 2017
320
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 61
28074573 2017
321
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. 61
28098151 2017
322
Key insights into the protein tyrosine phosphatase PTPN11/SHP2 associated with noonan syndrome and cancer. 61
28301897 2017
323
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature. 61
28328117 2017
324
RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations. 61
27753652 2017
325
Separate origins of the left internal and external carotid arteries from the aortic arch and cervical internal carotid artery aneurysm in a patient with Noonan syndrome. 61
27466463 2017
326
[General Anesthesia for Septal Myectomy in a Patient with Noonan Syndrome, Severe Hypertrophic Obstructive Cardiomyopathy and Right Ventricular Outflow Tract Obstruction]. 61
30382642 2017
327
Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models. 61
28455524 2017
328
How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype? 61
27193571 2017
329
[Use of recombinant Human Growth Hormone (rHGH)]. 61
28296370 2017
330
Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy. 61
28346493 2017
331
Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome. 61
27878339 2017
332
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. 61
28289718 2017
333
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 61
28211982 2017
334
Constitutional bone impairment in Noonan syndrome. 61
28211980 2017
335
Noonan syndrome - a new survey. 61
28144274 2017
336
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 61
27868344 2017
337
Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations. 61
27862862 2017
338
[Gastroparesis in Noonan syndrome]. 61
28192847 2017
339
SH2 Domain-Containing Phosphatase-2 Is a Novel Antifibrotic Regulator in Pulmonary Fibrosis. 61
27736153 2017
340
Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome. 61
28229064 2017
341
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. 61
28971455 2017
342
Occurrence of Cranial Neoplasms in Pediatric Patients with Noonan Syndrome Receiving Growth Hormone: Is Screening with Brain MRI prior to Initiation of Growth Hormone Indicated? 61
28746941 2017
343
Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome. 61
28804206 2017
344
Prenatal and Postnatal Sonographic Confirmation of Congenital Absence of the Ductus Venosus in a Child with Noonan Syndrome. 61
29057136 2017
345
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. 61
28009100 2017
346
Identification of demethylincisterol A3 as a selective inhibitor of protein tyrosine phosphatase Shp2. 61
27939989 2017
347
Dysplastic pulmonary valve stenosis associated with unilateral absent first metacarpal: A rare association. 61
28894588 2017
348
Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies. 61
28694877 2017
349
Modeling RASopathies with Genetically Modified Mouse Models. 61
27924582 2017
350
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. 61
28582432 2017
351
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. 61
28589114 2017
352
RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too? 61
27940666 2016
353
Confounding of the association between radiation exposure from CT scans and risk of leukemia and brain tumors by cancer susceptibility syndromes. 61
27893452 2016
354
Biopsy-Induced Duodenal Hematoma Is Not an Infrequent Complication Favored by Bone Marrow Transplantation. 61
26967823 2016
355
Possible correlations between annular pustular psoriasis and Noonan syndrome. 61
26670215 2016
356
Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate. 61
30805484 2016
357
Low-dose dasatinib rescues cardiac function in Noonan syndrome. 61
27942593 2016
358
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies. 61
27554254 2016
359
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 61
27101134 2016
360
Congenital heart defects in Noonan syndrome and RIT1 mutation. 61
27684039 2016
361
Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment. 61
27783593 2016
362
Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders. 61
27296701 2016
363
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review). 61
27666661 2016
364
Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication. 61
27258033 2016
365
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome. 61
28018461 2016
366
Germline RRAS2 mutations are not associated with Noonan syndrome. 61
27055474 2016
367
Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway. 61
27155212 2016
368
Impaired synaptic plasticity in RASopathies: a mini-review. 61
27565148 2016
369
[RIT1: a novel gene associated with Noonan syndrome]. 61
27699752 2016
370
Surgical management of giant coronary aneurysms in Noonan syndrome. 61
27400305 2016
371
Audiological findings in Noonan syndrome. 61
27619028 2016
372
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 61
27521173 2016
373
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling. 61
27466182 2016
374
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. 61
27452334 2016
375
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. 61
27544718 2016
376
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. 61
27626068 2016
377
Alterations in the phosphoproteomic profile of cells expressing a non-functional form of the SHP2 phosphatase. 61
26316256 2016
378
Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives. 61
27338165 2016
379
The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study. 61
27125300 2016
380
Correction of a severe Class II malocclusion in a patient with Noonan syndrome. 61
27585781 2016
381
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome. 61
27484170 2016
382
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 61
27264673 2016
383
Lymphovenous Anastomosis and Secondary Resection for Noonan Syndrome with Vulvar Lymphangiectasia. 61
27622088 2016
384
Recurrent SDSE bacteraemia resulting in streptococcal toxic shock syndrome in a patient with Noonan syndrome. 61
27485878 2016
385
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 61
26757980 2016
386
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. 61
27155140 2016
387
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. 61
27348588 2016
388
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. 61
27238887 2016
389
Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers. 61
27070266 2016
390
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency. 61
27561113 2016
391
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. 61
27109146 2016
392
Separate origins of the left internal and external carotid arteries from the aortic arch and cervical internal carotid artery aneurysm in a patient with Noonan syndrome. 61
27440846 2016
393
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). 61
27226556 2016
394
Allosteric inhibition of SHP2 phosphatase inhibits cancers driven by receptor tyrosine kinases. 61
27362227 2016
395
Continent Catheterizable Vesicostomy: An Alternative Surgical Modality for Pediatric Patients With Large Bladder Capacity. 61
26993353 2016
396
Myocardial fragmentation associated with disruption of the Z-band in hypertrophic cardiomyopathy in Noonan syndrome. 61
27216919 2016
397
Intellectual development in Noonan syndrome: a longitudinal study. 61
27247851 2016
398
Genetic predisposition to pediatric myeloid malignancies. 61
27384852 2016
399
Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes. 61
27304678 2016
400
Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. 61
26911351 2016
401
Prenatal DNA diagnosis of Noonan syndrome in a fetus with increased nuchal translucency using next-generation sequencing. 61
27139937 2016
402
Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation. 61
26280111 2016
403
K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice. 61
27174785 2016
404
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. 61
26817465 2016
405
Management of moyamoya syndrome in patients with Noonan syndrome. 61
26778511 2016
406
Nutritional aspects of Noonan syndrome and Noonan-related disorders. 61
27038324 2016
407
Inhibition of SHP2 ameliorates the pathogenesis of systemic lupus erythematosus. 61
27183387 2016
408
Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome. 61
26599469 2016
409
Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome. 61
27322245 2016
410
Atypical defects resulting in growth hormone insensitivity. 61
26670721 2016
411
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 61
26952712 2016
412
Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors? 61
27107091 2016
413
Growth patterns of patients with Noonan syndrome: correlation with age and genotype. 61
26903553 2016
414
RASopathies: Presentation at the Genome, Interactome, and Phenome Levels. 61
27385963 2016
415
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. 61
26242988 2016
416
RSK3 is required for concentric myocyte hypertrophy in an activated Raf1 model for Noonan syndrome. 61
26940993 2016
417
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature. 61
26518681 2016
418
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature. 61
26578640 2016
419
Growth references for Japanese individuals with Noonan syndrome. 61
26650342 2016
420
Acute lymphoblastic leukemia in the context of RASopathies. 61
26855057 2016
421
Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome. 61
27104176 2016
422
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 61
26758488 2016
423
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. 61
26686981 2016
424
Development of bilateral coronary artery aneurysms in a child with Noonan syndrome. 61
26515448 2016
425
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 61
25959749 2016
426
Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report. 61
25575339 2016
427
Preexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact. 61
26732628 2016
428
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. 61
26572961 2016
429
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 61
26714497 2016
430
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 61
26337637 2016
431
PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION. 61
30204961 2016
432
A Unique Case of a 12-Year-Old Boy With Noonan Syndrome Combined With Noncompaction of the Ventricular Myocardium. 61
26973272 2016
433
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 61
26607044 2016
434
Gain-of-function mutations of Ptpn11 (Shp2) cause aberrant mitosis and increase susceptibility to DNA damage-induced malignancies. 61
26755576 2016
435
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 61
26742426 2016
436
Confounding of the Association between Radiation Exposure from CT Scans and Risk of Leukemia and Brain Tumors by Cancer Susceptibility Syndromes. 61
26598533 2016
437
Effects of Growth Hormone on Bone. 61
26940392 2016
438
First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. 61
27168972 2016
439
Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity. 61
27446933 2016
440
Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye. 61
27099847 2016
441
Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series. 61
28174814 2016
442
Recent advances in RASopathies. 61
26446362 2016
443
A Case of Noonan Syndrome with Multiple Subcutaneous Tumours with MAPK-ERK/p38 Activation. 61
26122793 2016
444
Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy. 61
26377682 2016
445
Pragmatic language impairment in children with Noonan syndrome. 61
27348294 2016
446
[The Biological Function of SHP2 in Human Disease]. 61
27028808 2016
447
Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 61
26297936 2015
448
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. 61
26286251 2015
449
Malignancy in Noonan syndrome and related disorders. 61
25683281 2015
450
Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy. 61
26197467 2015
451
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data. 61
26227443 2015
452
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family. 61
25712082 2015
453
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 61
26249544 2015
454
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype? 61
25974318 2015
455
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 61
26178382 2015
456
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 61
26173643 2015
457
Effective palliation of intractable bleeding from Noonan syndrome-associated lymphatic malformations by radiotherapy. 61
25824112 2015
458
SHP2-Deficiency in Chondrocytes Deforms Orofacial Cartilage and Ciliogenesis in Mice. 61
25919282 2015
459
A Novel Use of Methylene Blue in the Pediatric ICU. 61
26347436 2015
460
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. 61
26456833 2015
461
Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction. 61
26272816 2015
462
Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency. 61
26444854 2015
463
Rhabdomyosarcomas in children with neurofibromatosis type I: A national historical cohort. 61
25893277 2015
464
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. 61
26467218 2015
465
SHP2 sails from physiology to pathology. 61
26341048 2015
466
LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW. 61
26939159 2015
467
Genetic Syndromes associated with Congenital Heart Disease. 61
26413101 2015
468
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 61
25156961 2015
469
Functions of Shp2 in cancer. 61
26088100 2015
470
Otolaryngologic manifestations of Noonan syndrome. 61
26401682 2015
471
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach. 61
25900621 2015
472
Incontinence in persons with Noonan Syndrome. 61
26143485 2015
473
[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses]. 61
26321587 2015
474
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma. 61
25846317 2015
475
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. 61
25370043 2015
476
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. 61
25952305 2015
477
BRAF gene: From human cancers to developmental syndromes. 61
26150740 2015
478
Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling. 61
26186557 2015
479
Cardiomyopathies in Noonan syndrome and the other RASopathies. 61
26380542 2015
480
Multiple Unerupted Permanent Teeth Associated with Noonan Syndrome. 61
26229724 2015
481
Post-operative airway obstruction in Noonan syndrome: An unusual presentation. 61
26257420 2015
482
Activated k-ras, but not h-ras or N-ras, regulates brain neural stem cell proliferation in a raf/rb-dependent manner. 61
25788415 2015
483
Multiple Intracranial Tuberculomas in a Patient With Noonan Syndrome. 61
26179841 2015
484
Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome. 61
25585602 2015
485
External ear anomalies and hearing impairment in Noonan Syndrome. 61
25862627 2015
486
Transcatheter closure of atrial septal defect in a patient with Noonan syndrome after corrective surgery. 61
26226731 2015
487
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. 61
25795793 2015
488
Oncogenic and RASopathy-associated K-RAS mutations relieve membrane-dependent occlusion of the effector-binding site. 61
25941399 2015
489
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 61
25912702 2015
490
Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines. 61
25724491 2015
491
A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. 61
26266034 2015
492
Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes. 61
25711203 2015
493
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 61
25884655 2015
494
Vascular endothelial growth factor (VEGF) levels in short, GH treated children: a distinct pattern of VEGF-C in Noonan syndrome. 61
25344824 2015
495
Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 61
25706034 2015
496
Fatal outcome after renal transplant in a pediatric patient with Noonan syndrome. 61
25894171 2015
497
Successful diuretics treatment of protein-losing enteropathy in Noonan syndrome. 61
25868959 2015
498
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 61
25914815 2015
499
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. 61
25708222 2015
500
Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. 61
25366258 2015
501
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. 61
25742478 2015
502
Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder. 61
25283271 2015
503
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. 61
25563136 2015
504
Congenital chylothorax: a prospective nationwide epidemiological study in Germany. 61
25480460 2015
505
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. 61
24939586 2015
506
Autoimmune liver disease in Noonan Syndrome. 61
25595571 2015
507
Associated noncardiac congenital anomalies among cases with congenital heart defects. 61
25497206 2015
508
Cardiac hypertrophy induced by active Raf depends on Yorkie-mediated transcription. 61
25650441 2015
509
Prolapse of all cardiac valves in Noonan syndrome. 61
25716036 2015
510
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. 61
25423878 2015
511
Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation. 61
25425531 2015
512
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. 61
25358541 2015
513
Evolutionary constraint and disease associations of post-translational modification sites in human genomes. 61
25611800 2015
514
The investigation of quality of life in 87 Chinese patients with disorders of sex development. 61
26075230 2015
515
Cryptic 13q34 and 4q35.2 Deletions in an Italian Family. 61
26645620 2015
516
The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies. 61
26084119 2015
517
The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence. 61
25503994 2015
518
Ankle joint-preserving surgery in a patient with severe haemophilia and Noonan syndrome: case report and literature review. 61
25471311 2015
519
Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program. 61
26351466 2015
520
Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis. 61
25514835 2015
521
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. 61
25194980 2015
522
The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration. 61
25359717 2015
523
CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33. 61
26852509 2015
524
Repeated General Anesthesia in a Patient With Noonan Syndrome. 61
26061577 2015
525
AGENESIS OF THE DUCTUS VENOSUS--A CASE WITH NOONAN SYNDROME. 61
26625673 2015
526
Noonan syndrome with bilateral acute angle-closure. 61
25041545 2015
527
Noonan Syndrome Complicated by Primary Pulmonary Lymphangiectasia. 61
26803093 2015
528
Z-type pattern pectus excavatum/carinatum in a case of Noonan syndrome. 61
25952229 2015
529
The impact of growth hormone therapy on adult height in noonan syndrome: a systematic review. 61
25721697 2015
530
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. 61
25804457 2015
531
Transnodal lymphangiography and post-CT for protein-losing enteropathy in Noonan syndrome. 61
25636017 2015
532
A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome. 61
26467173 2015
533
The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). 61
26458870 2015
534
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation. 61
25331583 2014
535
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. 61
25383899 2014
536
Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase. 61
25178522 2014
537
ERKquake in Noonan syndrome: one step closer to personalized medicine. 61
25413086 2014
538
Ocular manifestations of Noonan syndrome in twin siblings: a case report of keratoconus with acute corneal hydrops. 61
25579364 2014
539
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR. 61
25178484 2014
540
Congenital chylothorax in newborn with trisomy 21. 61
25541830 2014
541
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways. 61
25123707 2014
542
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. 61
25250515 2014
543
Further evidence of the importance of RIT1 in Noonan syndrome. 61
25124994 2014
544
RAS diseases in children. 61
25420281 2014
545
K-RasV14I recapitulates Noonan syndrome in mice. 61
25359213 2014
546
Noonan syndrome. 61
21771153 2014
547
Juvenile myelomonocytic leukaemia and Noonan syndrome. 61
25097206 2014
548
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. 61
25180280 2014
549
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity. 61
25288766 2014
550
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 61
24891296 2014
551
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 61
24939608 2014
552
Clinical and Molecular Findings of Tunisian Patients with RASopathies. 61
25337068 2014
553
PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice. 61
24865967 2014
554
Next-generation sequencing identifies rare variants associated with Noonan syndrome. 61
25049390 2014
555
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome. 61
24782337 2014
556
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. 61
24705357 2014
557
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 61
23877478 2014
558
Pectus excavatum and carinatum. 61
24821303 2014
559
Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing. 61
24754368 2014
560
The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes. 61
25182392 2014
561
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 61
24935154 2014
562
Targeted deletion of ERK2 in cardiomyocytes attenuates hypertrophic response but provokes pathological stress induced cardiac dysfunction. 61
24631771 2014
563
Cardiovascular disease in Noonan syndrome. 61
24534818 2014
564
Lymphangioma circumscriptum of the vulva in a patient with Noonan syndrome. 61
24999641 2014
565
Etiologies and early diagnosis of short stature and growth failure in children and adolescents. 61
24731744 2014
566
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 61
24718990 2014
567
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation. 61
24703799 2014
568
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. 61
24039098 2014
569
Hemostatic abnormalities in Noonan syndrome. 61
24753526 2014
570
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 61
24458596 2014
571
[Genetic identification of a case of Noonan syndrome and treatment with growth hormone]. 61
24054841 2014
572
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 61
24458587 2014
573
CIIA negatively regulates the Ras-Erk1/2 signaling pathway through inhibiting the Ras-specific GEF activity of SOS1. 61
24522193 2014
574
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 61
24767283 2014
575
Behavioral profile in RASopathies. 61
24458522 2014
576
Cervical characteristics of Noonan syndrome. 61
23660838 2014
577
Ectatic coronary arteries in a patient with Noonan syndrome on transoesophageal echocardiography. 61
24732615 2014
578
Growth hormone treatment in non-growth hormone-deficient children. 61
24926456 2014
579
The protein tyrosine phosphatase Shp2 is required for the generation of oligodendrocyte progenitor cells and myelination in the mouse telencephalon. 61
24599474 2014
580
[Juvenile myelomonocytic leukemias]. 61
24691193 2014
581
Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation. 61
24072241 2014
582
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 61
24150203 2014
583
[Correction: A patient with Noonan syndrome]. 61
24684131 2014
584
Cardiac findings in Noonan syndrome on long-term follow-up. 61
23750712 2014
585
Unilateral giant cell lesion of the jaw in Noonan syndrome. 61
25073238 2014
586
Postpubertal cherubism with Noonan syndrome. 61
24718001 2014
587
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 61
24628801 2014
588
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 61
24357598 2014
589
Multiple café au lait spots in familial patients with MAP2K2 mutation. 61
24311457 2014
590
Distended jugular lymphatic sacs in fetuses with increased nuchal translucency: correlation with first-trimester findings in aberrant karyotypes. 61
23718767 2014
591
Ulerythema ophryogenes: updates and insights. 61
24605344 2014
592
M to T rearrangement: an approach to correct webbed neck deformity. 61
24523736 2014
593
Autism traits in the RASopathies. 61
24101678 2014
594
SHP-2 regulates growth factor dependent vascular signalling and function. 61
22512561 2014
595
[The conference, "rare diseases not only in the curriculum" in Szczecin]. 61
26030966 2014
596
Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis. 61
25039348 2014
597
Syndromic disorders with short stature. 61
24637303 2014
598
Spontaneous dislocation of a crystalline lens to the anterior chamber with pupillary block glaucoma in Noonan Syndrome: a case report. 61
25374640 2014
599
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. 61
24225993 2014
600
Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. 61
25184253 2014
601
[Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome]. 61
25370770 2014
602
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 61
24451042 2014
603
Multidetector computed tomography-guided percutaneous transluminal septal myocardial ablation in a Noonan syndrome patient with hypertrophic obstructive cardiomyopathy. 61
24411913 2014
604
The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate. 61
24295726 2014
605
Decreased bone mineral density in Costello syndrome. 61
24246682 2014
606
Gowers' intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome. 61
24575321 2014
607
Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11. 61
24739123 2014
608
Noonan-syndrome: a considerably prevalent but neglected psychiatric differential diagnosis. 61
25093778 2014
609
Concurrence of anorexia nervosa and Noonan syndrome. 61
24089313 2014
610
Noonan syndrome. 61
24444506 2014
611
Frequency of aortic dilation in Noonan syndrome. 61
24220280 2014
612
Isolated asymptomatic short sternum in a healthy young girl. 61
25143854 2014
613
Information from your family doctor. Noonan syndrome: what you should know. 61
24444511 2014
614
Oral manifestations of Noonan syndrome: review of the literature and a report of four cases. 61
25611289 2014
615
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study. 61
24382853 2013
616
An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth. 61
24211266 2013
617
Coronary artery ectasia in an adult Noonan syndrome detected on coronary CT angiography. 61
23608065 2013
618
[A patient with Noonan syndrome]. 61
24555250 2013
619
Impaired motor cortex plasticity in patients with Noonan syndrome. 61
23763990 2013
620
Comment on "prenatal diagnosis and prognosis in Noonan syndrome". 61
24327430 2013
621
Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice. 61
24077964 2013
622
Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome. 61
24183200 2013
623
Noonan syndrome with complete atrioventricular canal defect with pulmonary stenosis. 61
24055746 2013
624
Involvement of EphA2-mediated tyrosine phosphorylation of Shp2 in Shp2-regulated activation of extracellular signal-regulated kinase. 61
23318428 2013
625
MAPK activation in mature cataract associated with Noonan syndrome. 61
24219368 2013
626
The application of all-autologous three-sinus repair for supravalvular pulmonary stenosis. 61
23619830 2013
627
Rasopathies - dysmorphic syndromes with short stature and risk of malignancy. 61
24156711 2013
628
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. 61
23918763 2013
629
Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature. 61
23786871 2013
630
[Enigmatic lymphatic diseases involving the lung]. 61
23561737 2013
631
Targeting protein tyrosine phosphatase SHP2 for the treatment of PTPN11-associated malignancies. 61
23825065 2013
632
Identification of cryptotanshinone as an inhibitor of oncogenic protein tyrosine phosphatase SHP2 (PTPN11). 61
23957426 2013
633
[Azygos anterior cerebral artery aneurysm in a patient with Noonan syndrome]. 61
24018784 2013
634
The other side of Turner's: Noonan's syndrome. 61
24083159 2013
635
Learning and memory in children with Noonan syndrome. 61
23918208 2013
636
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 61
23321623 2013
637
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. 61
23771920 2013
638
Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis. 61
23965213 2013
639
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 61
23756559 2013
640
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 61
23813970 2013
641
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 61
23791108 2013
642
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. 61
23863940 2013
643
Do you know this syndrome? Noonan syndrome. 61
24068150 2013
644
The prepubertal testis: biomarkers and functions. 61
23549308 2013
645
Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia. 61
23584145 2013
646
Multiple granular cell tumors in a child with Noonan syndrome. 61
22915371 2013
647
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 61
23885229 2013
648
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 61
23726368 2013
649
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 61
23613113 2013
650
Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature. 61
23673306 2013
651
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 61
24775816 2013
652
Association between Noonan syndrome and Chiari I malformation: a case-based update. 61
23239255 2013
653
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. 61
23456229 2013
654
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 61
23047742 2013
655
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. 61
23457302 2013
656
Endothelial ERK signaling controls lymphatic fate specification. 61
23391722 2013
657
NMR-based functional profiling of RASopathies and oncogenic RAS mutations. 61
23487764 2013
658
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. 61
23298620 2013
659
Conservative management of severe open bite and feeding difficulties in patient with noonan syndrome. 61
22849635 2013
660
Psychological and social factors in undergoing reconstructive surgery among individuals with craniofacial conditions: an exploratory study. 61
22315960 2013
661
Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases. 61
23345196 2013
662
Atrioventricular canal defect in patients with RASopathies. 61
22781091 2013
663
Clinical and molecular analysis of RASopathies in a group of Turkish patients. 61
22420426 2013
664
Ulerythema ophryogenes and Noonan syndrome. 61
23473284 2013
665
Ras/MAPK syndromes and childhood hemato-oncological diseases. 61
23250860 2013
666
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. 61
23624134 2013
667
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. 61
23446178 2013
668
Noonan syndrome and different morphologic expressions of hypertrophic cardiomyopathy. 61
22790361 2013
669
Severe hypertrophic cardiomyopathy in Noonan syndrome-consider sequencing genes encoding sarcomeric proteins. 61
23239527 2013
670
Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link. 61
23691379 2013
671
Analysis of giant cell tumour of bone cells for Noonan syndrome/cherubism-related mutations. 61
22725657 2013
672
The RASopathies. 61
23875798 2013
673
Noonan syndrome. 61
23312968 2013
674
Update on Turner and Noonan syndromes. 61
23099266 2012
675
A case of ST elevation myocardial infarction secondary to heparin-induced thrombocytopaenia with thrombosis. 61
22695183 2012
676
Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. 61
23165751 2012
677
[Clinical and molecular study of the Noonan syndrome]. 61
23513489 2012
678
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. 61
22965773 2012
679
Concurrent orthopedic and neurosurgical procedures in pediatric patients with spinal deformity. 61
22863686 2012
680
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway. 61
22887833 2012
681
Bleeding diathesis in Noonan syndrome: is acquired von Willebrand syndrome the clue? 61
22985731 2012
682
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 61
22826437 2012
683
Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome. 61
22664660 2012
684
Juvenile myelomonocytic leukemia in a 16-year-old with Noonan syndrome: case report. 61
22510777 2012
685
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. 61
22821648 2012
686
Cognitive functioning of adults with Noonan syndrome: a case-control study. 61
22783933 2012
687
Omphalocele in a patient with Noonan syndrome. 61
22932443 2012
688
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. 61
22887781 2012
689
Atypical granular cell tumor occurring in an individual with Noonan syndrome treated with growth hormone. 61
22329457 2012
690
Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. 61
22847776 2012
691
Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation. 61
22995099 2012
692
Case report: Noonan-like multiple central giant cell granuloma syndrome. 61
23211900 2012
693
Peripheral muscle weakness in RASopathies. 61
22907230 2012
694
Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. 61
22980313 2012
695
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. 61
22848035 2012
696
Bleeding disorders and Noonan syndrome. 61
22566384 2012
697
Health and quality of life in adults with Noonan syndrome. 61
22494877 2012
698
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 61
22711529 2012
699
Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome. 61
22786616 2012
700
Shp2 function in hematopoietic stem cell biology and leukemogenesis. 61
22504523 2012
701
Noonan syndrome presenting with neurogenic intermittent claudication. 61
23807040 2012
702
Chronic tubulointerstitial nephritis in a solitary kidney of a child with Noonan syndrome. 61
23162278 2012
703
A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot. 61
22503907 2012
704
Effect of 4 years of growth hormone therapy in children with Noonan syndrome in the American Norditropin Studies: Web-Enabled Research (ANSWER) Program® registry. 61
22682146 2012
705
Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway? 61
22551697 2012
706
NRAS Mutations in Noonan Syndrome. 61
22855653 2012
707
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 61
22528146 2012
708
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 61
22585553 2012
709
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. 61
22589294 2012
710
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). 61
22528600 2012
711
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 61
22465605 2012
712
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. 61
22488932 2012
713
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. 61
22488759 2012
714
Prenatal management and thoracoamniotic shunting in primary fetal pleural effusions: a single centre experience. 61
22499187 2012
715
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. 61
21901340 2012
716
Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. 61
22419608 2012
717
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. 61
22253195 2012
718
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. 61
22371576 2012
719
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. 61
22315187 2012
720
SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton. 61
22278918 2012
721
Increased nuchal translucency in the presence of normal chromosomes: what's next? 61
22277886 2012
722
Ocular manifestations of Noonan syndrome. 61
21815719 2012
723
Characterization of a novel KRAS mutation identified in Noonan syndrome. 61
22302539 2012
724
Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome. 61
22605701 2012
725
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. 61
22261753 2012
726
Short stature and its treatment in Turner and Noonan syndromes. 61
22157403 2012
727
Bleeding disorders in Noonan syndrome. 61
22012616 2012
728
Affective functioning and social cognition in Noonan syndrome. 61
21740625 2012
729
Woolly hair nevus: a rare entity. 61
22628991 2012
730
Massive global right ventricular hypertrophy with both fixed and dynamic obstruction and pulmonary valve dysplasia. 61
21696553 2012
731
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. 61
22777296 2012
732
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment. 61
21590266 2012
733
Spectrum of insulin-like growth factor deficiency. 61
23182818 2012
734
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review. 61
21871821 2012
735
Propionic acidemia in a male newborn with Noonan syndrome: a case report. 61
22788076 2012
736
[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome]. 61
23373411 2012
737
Life-threatening obstructive sleep apnea caused by adenoid hypertrophy in an infant with noonan syndrome. 61
23198236 2012
738
Chromosome 15q24 microdeletion syndrome. 61
22216833 2012
739
Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway. 61
23155469 2012
740
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 61
22058153 2012
741
Williams-Beuren's Syndrome: A Case Report. 61
22927862 2012
742
Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome. 61
22153407 2011
743
Clinical and humanistic aspects of growth hormone deficiency and growth-related disorders. 61
22590765 2011
744
Bone resorption in syndromes of the Ras/MAPK pathway. 61
21204800 2011
745
The benefits of growth hormone therapy in patients with Turner syndrome, Noonan syndrome and children born small for gestational age. 61
22019012 2011
746
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 61
21784453 2011
747
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome. 61
20523244 2011
748
Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications. 61
22011734 2011
749
[A case of Noonan Syndrome with coeliac disease due to SOS1 mutation]. 61
21524768 2011
750
Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome? 61
21954173 2011
751
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 61
22389993 2011
752
Sudden onset of Chiari malformation Type I in previously asymptomatic patients. 61
22044365 2011
753
Understanding SOS (Son of Sevenless). 61
21787760 2011
754
Orbital manifestations of Noonan syndrome. 61
21464791 2011
755
Two cases of Noonan syndrome: aortic coarctation causing a giant aneurysm of the descending aorta. 61
21983781 2011
756
[Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome]. 61
21885263 2011
757
Prenatal features of Noonan syndrome: prevalence and prognostic value. 61
21744363 2011
758
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity. 61
21910245 2011
759
The differential diagnosis of familial lentiginosis syndromes. 61
21538076 2011
760
Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype. 61
21706501 2011
761
Noonan syndrome: an anesthesiologist's perspective. 61
21860196 2011
762
RASopathies: Clinical Diagnosis in the First Year of Life. 61
22190897 2011
763
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. 61
21804188 2011
764
Clinical manifestations of mutations in RAS and related intracellular signal transduction factors. 61
21750428 2011
765
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 61
21365175 2011
766
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 61
21407260 2011
767
Moyamoya syndrome in a child with Noonan syndrome. 61
21763956 2011
768
Orthopaedic conditions in Ras/MAPK related disorders. 61
21654472 2011
769
Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome: a longitudinal study. 61
21551165 2011
770
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 61
21387466 2011
771
Anesthetic considerations and difficult airway management in a case of Noonan syndrome. 61
21957424 2011
772
[Rasopathies: developmental disorders that predispose to cancer and skin manifestations]. 61
21536246 2011
773
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 61
21548061 2011
774
[Neuro-cardio-facial-cutaneous syndrome]. 61
21700069 2011
775
[Prenatal hypertrophic cardiomyopathy and neonatal noonan syndrome: an association to remember]. 61
21397377 2011
776
Lethal presentation of neurofibromatosis and Noonan syndrome. 61
21567923 2011
777
Heart failure in a patient with Noonan syndrome. 61
21670236 2011
778
PTPN11 gene mutation associated with abnormal gonadal determination. 61
21465649 2011
779
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade. 61
21274610 2011
780
The musculoskeletal phenotype of the RASopathies. 61
21495174 2011
781
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 61
22681964 2011
782
Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 61
21500339 2011
783
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. 61
21263000 2011
784
Surgical management of unilateral rhegmatogenous retinal detachment associated with ocular coloboma in a 7-year-old child with Noonan syndrome. 61
22696753 2011
785
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes. 61
21526175 2011
786
Low-resistance hepatic artery flow in first-trimester fetuses: an ominous sign. 61
20922779 2011
787
Sudden death in a patient with Noonan syndrome. 61
21205420 2011
788
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. 61
21549079 2011
789
Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations. 61
21068439 2011
790
Genetic assessment following increased nuchal translucency and normal karyotype. 61
21321969 2011
791
MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. 61
21339642 2011
792
RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. 61
21339640 2011
793
Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome. 61
21268034 2011
794
Ras and Rap signaling in synaptic plasticity and mental disorders. 61
20431046 2011
795
Noonan syndrome and clinically related disorders. 61
21396583 2011
796
Bleeding from the small intestine and aortic regurgitation in Noonan syndrome. 61
22041367 2011
797
A mother and son with Noonan syndrome resulting from a PTPN11 mutation. 61
21534355 2011
798
The novel concurrence of Noonan syndrome and bilateral Duane-like synkinesis. 61
19791712 2011
799
[A new "rasopathy": mutation in the CBL tumour-suppressor gene in neuro-cardio-facio-cutaneous syndrome similar to Noonan syndrome]. 61
21276471 2011
800
Noonan syndrome with occipito-atlantal dislocation and upper cervical cord compression due to C1 dysplasia and basilar invagination. 61
21701115 2011
801
Erk1 positively regulates osteoclast differentiation and bone resorptive activity. 61
21961044 2011
802
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 61
20949621 2011
803
SHP2 is a target of the immunosuppressant tautomycetin. 61
21276943 2011
804
Protein Tyrosine Phosphatase SHP-2 (PTPN11) in Hematopoiesis and Leukemogenesis. 61
21799948 2011
805
Modified eyelid crease approach frontalis suspension without brow incision. 61
20700074 2011
806
Ectatic coronary arteries in Noonan syndrome. 61
21720486 2011
807
Myeloproliferative disorder in Noonan syndrome. 61
20829714 2011
808
Atypical orofacial conditions in Noonan syndrome: a case report. 61
22524084 2011
809
Prevalence and outcome of absence of ductus venosus at 11(+0) to 13(+6) weeks. 61
21335936 2011
810
Survival implications: hypertrophic cardiomyopathy in Noonan syndrome. 61
21269411 2011
811
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 61
20882035 2010
812
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation. 61
21041952 2010
813
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 61
21340158 2010
814
Pectus carinatum. 61
20974441 2010
815
Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents. 61
20979190 2010
816
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 61
20954246 2010
817
Which neurodevelopmental disorders get researched and why? 61
21152085 2010
818
Marathon of eponyms: 14 Noonan syndrome. 61
20946318 2010
819
The diagnostic and clinical significance of café-au-lait macules. 61
20888463 2010
820
Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling. 61
20679480 2010
821
Imbalance of plasminogen activator inhibitor type-1 (PAI-1) and tissue plasminogen activator (t-PA) activity in patients with Noonan syndrome. 61
20686427 2010
822
Images in haematology. Noonan syndrome associated with bleeding disorders. 61
20738302 2010
823
[Mutation analysis of PTPN11 gene in Noonan syndrome]. 61
20931536 2010
824
The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. 61
20869642 2010
825
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). 61
20883402 2010
826
Noonan syndrome: clinical features, diagnosis, and management guidelines. 61
20876176 2010
827
A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma. 61
20607846 2010
828
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 61
20683980 2010
829
Noonan syndrome, metabolic syndrome and stroke-in-the-young: coincidence, causal or contribution? 61
20873082 2010
830
Sustained cytokinemia and chemokinemia concomitant with juvenile myelomonocytic leukemia in an infant with Noonan syndrome. 61
20417558 2010
831
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 61
20694012 2010
832
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. 61
20673819 2010
833
Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway. 61
20030748 2010
834
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 61
20619386 2010
835
The face of Noonan syndrome: Does phenotype predict genotype. 61
20602484 2010
836
The language phenotype of children and adolescents with Noonan syndrome. 61
20543023 2010
837
Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation. 61
20064076 2010
838
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. 61
20461756 2010
839
Pulmonary artery diverticulum: an angiographic marker for Williams syndrome. 61
20145917 2010
840
[Genetic base of heart diseases]. 61
20712239 2010
841
Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation. 61
20810036 2010
842
Extradural developmental dural root sleeve cyst presenting as a lumbar paraspinal mass with renal compression in an infant. 61
20515331 2010
843
Noonan syndrome: A case report. 61
20635845 2010
844
Giant cell lesions in noonan syndrome: case report and review of the literature. 61
20383758 2010
845
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 61
20578946 2010
846
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. 61
20535210 2010
847
The molecular genetics of congenital heart disease: a review of recent developments. 61
20186050 2010
848
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. 61
20493809 2010
849
A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. 61
20718194 2010
850
Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. 61
20302979 2010
851
Idiopathic bilateral central giant cell reparative granuloma of jaws: a case report and literature review. 61
20219254 2010
852
Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India. 61
20006740 2010
853
Salicylic acid based small molecule inhibitor for the oncogenic Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2). 61
20170098 2010
854
First-trimester genetic diagnosis: a series of six cases. 61
20301870 2010
855
Unusual cardiac phenotype in a newborn with noonan syndrome. 61
20412493 2010
856
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 61
20052757 2010
857
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. 61
20112233 2010
858
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 61
19953625 2010
859
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. 61
20186801 2010
860
Multiple granular cell tumors in a child with Noonan syndrome. 61
20537083 2010
861
Percutaneous pulmonary valvuloplasty and atrial septal defect closure in a 69-year-old patient with Noonan's syndrome. 61
20306897 2010
862
Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. 61
20133692 2010
863
Novel occurrence of microcystic lymphatic malformation and linear port-wine stain in patients with Noonan syndrome. 61
20465655 2010
864
A suggested role for mitochondria in Noonan syndrome. 61
19835954 2010
865
Noonan syndrome: clinical aspects and molecular pathogenesis. 61
20648242 2010
866
Pulmonary stenosis as a predisposing factor for infective endocarditis in a patient with Noonan syndrome. 61
20200638 2010
867
Cerebral anomalies and Chiari type 1 malformation. 61
21540621 2010
868
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. 61
20014119 2010
869
Evo-Devo of child growth III: premature juvenility as an evolutionary trade-off. 61
20395652 2010
870
Factors influencing the one- and two-year growth response in children treated with growth hormone: analysis from an observational study. 61
20981140 2010
871
A restricted spectrum of NRAS mutations causes Noonan syndrome. 61
19966803 2010
872
Current indications for growth hormone therapy for children and adolescents. 61
20523020 2010
873
[Generalized woolly hair: case report and literature review]. 61
20464096 2010
874
An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes. 61
20136862 2010
875
Arrhythmogenic cardiomyopathy in a patient with Noonan syndrome. 61
20450268 2010
876
PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. 61
19795160 2010
877
Coinheritance of Noonan syndrome and Becker muscular dystrophy. 61
19875288 2010
878
Noonan syndrome: growth to growth hormone - the experience of observational studies. 61
20029235 2009
879
Response to growth hormone in short children with Noonan syndrome: correlation to genotype. 61
20029239 2009
880
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. 61
19938085 2009
881
[Noonan syndrome: a case report and literature review]. 61
20045924 2009
882
Noonan syndrome: the hypothalamo-adrenal and hypothalamo-gonadal axes. 61
20029233 2009
883
Growth hormone therapy in Noonan syndrome: growth response and characteristics. 61
20029236 2009
884
Growth hormone and the heart in Noonan syndrome. 61
20029238 2009
885
Genetic and pathogenetic aspects of Noonan syndrome and related disorders. 61
20029240 2009
886
Candida albicans meningitis in an infant with Noonan syndrome. 61
20464338 2009
887
Pilocytic astrocytoma in a child with Noonan syndrome. 61
19621452 2009
888
Noonan syndrome: introduction and basic clinical features. 61
20029230 2009
889
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 61
19845691 2009
890
Malignant diseases in Noonan syndrome and related disorders. 61
20029231 2009
891
Neuropsychological and behavioral aspects of Noonan syndrome. 61
20029232 2009
892
Growth in Noonan syndrome. 61
20029234 2009
893
GH therapy in Noonan syndrome: Review of final height data. 61
20029237 2009
894
Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. 61
19919001 2009
895
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome. 61
19737548 2009
896
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]. 61
19935936 2009
897
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. 61
19437094 2009
898
Protein tyrosine phosphatase SHP-2: a proto-oncogene product that promotes Ras activation. 61
19622105 2009
899
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 61
19352411 2009
900
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome. 61
19760651 2009
901
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? 61
19582499 2009
902
Etiology of chest wall deformities--a genetic review for the treating physician. 61
19853763 2009
903
Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. 61
19706403 2009
904
Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome. 61
19927903 2009
905
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. 61
19416762 2009
906
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 61
19509418 2009
907
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature. 61
18958496 2009
908
GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism. 61
19282110 2009
909
Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development. 61
19541608 2009
910
Growth response, near-adult height, and patterns of growth and puberty in patients with noonan syndrome treated with growth hormone. 61
19401366 2009
911
[Noonan syndrome with atrial septal defect and hypertrophic cardiomyopathy]. 61
19588822 2009
912
Late-onset Lymphedema and Protein-losing Enteropathy with Noonan Syndrome. 61
23926366 2009
913
[Genome research in pediatric field]. 61
19507506 2009
914
Abnormal growth in noonan syndrome: the challenge of optimal therapy. 61
19550387 2009
915
Bilateral cochlear implantation in children with Noonan syndrome. 61
19303148 2009
916
Noonan syndrome: a case report. 61
19550102 2009
917
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 61
19156172 2009
918
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. 61
19438935 2009
919
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. 61
19449407 2009
920
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 61
19396835 2009
921
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 61
18854871 2009
922
Genotype differences in cognitive functioning in Noonan syndrome. 61
19077116 2009
923
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 61
19120036 2009
924
Noonan syndrome, the Ras-MAPK signalling pathway and short stature. 61
19407499 2009
925
A case of Noonan syndrome and Whipple's disease in the same patient. 61
19322929 2009
926
Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. 61
19251646 2009
927
Noonan syndrome associated with systemic lupus erythematosus. 61
19213867 2009
928
Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications. 61
19371294 2009
929
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 61
18759865 2009
930
Coronary myocardial bridging in Noonan syndrome: definitive diagnosis with high-resolution CT. 61
19095812 2009
931
Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature. 61
19125092 2009
932
Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. 61
19258709 2009
933
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. 61
19008228 2009
934
[Children with body length deficiency at birth and at risk of growth deficiency since childhood]. 61
20384184 2009
935
[Analysis of reasons of short stature in own material]. 61
20384174 2009
936
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. 61
21686750 2009
937
Recurrent cystic hygroma with hydrops. 61
19276638 2009
938
[LEOPARD syndrome]. 61
19174044 2009
939
Leopard syndrome and Chiari type I malformation: a case report and review of the literature. 61
19131856 2009
940
Coronary artery dilatation in LEOPARD syndrome. A child case and literature review. 61
19207402 2009
941
[Myopia in systemic disorders]. 61
19517854 2009
942
Visual function in Noonan and LEOPARD syndrome. 61
19568997 2008
943
Growth hormone therapy in children and adolescents: pharmacokinetic/pharmacodynamic considerations and emerging indications. 61
19040332 2008
944
Identification of small molecular weight inhibitors of Src homology 2 domain-containing tyrosine phosphatase 2 (SHP-2) via in silico database screening combined with experimental assay. 61
19007293 2008
945
Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. 61
19063751 2008
946
Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. 61
19017799 2008
947
Are ECG abnormalities in Noonan syndrome characteristic for the syndrome? 61
18270737 2008
948
Impaired Sertoli cell function in males diagnosed with Noonan syndrome. 61
19189703 2008
949
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. 61
18925667 2008
950
Clinical and molecular characterization of 40 patients with Noonan syndrome. 61
18678287 2008
951
Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. 61
18758896 2008
952
Acute myocarditis secondary to Campylobacter jejuni enterocolitis. 61
18617316 2008
953
2-Thiazolylimino/heteroarylimino-5-arylidene-4-thiazolidinones as new agents with SHP-2 inhibitory action. 61
18702480 2008
954
Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses. 61
19707372 2008
955
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 61
18331608 2008
956
Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. 61
18562489 2008
957
Percutaneous transluminal septal myocardial ablation in a child with hypertrophic obstructive cardiomyopathy and Noonan syndrome. 61
18837814 2008
958
Tumor development in three patients with Noonan syndrome. 61
18057963 2008
959
[New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1]. 61
18789305 2008
960
Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. 61
18454468 2008
961
Genetic approaches for changing the heart and dissecting complex syndromes. 61
18601931 2008
962
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 61
18470943 2008
963
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. 61
18799937 2008
964
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 61
18456719 2008
965
[Noonan syndrome: from phenotype to growth hormone therapy]. 61
18797587 2008
966
Giant cell aortitis and Noonan syndrome. 61
18715465 2008
967
Isolation of a distinct class of gain-of-function SHP-2 mutants with oncogenic RAS-like transforming activity from solid tumors. 61
18223690 2008
968
[From Noonan syndrome to juvenile myelomonocytic leukemia]. 61
18582761 2008
969
Noonan syndrome. A review. 61
18487980 2008
970
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 61
18253957 2008
971
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation. 61
18378677 2008
972
Antenatal imaging of cutis verticis gyrata. 61
18246340 2008
973
Granular cell tumor of the scrotum in a child with Noonan syndrome. 61
18577039 2008
974
Leopard syndrome. 61
18505544 2008
975
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. 61
18328949 2008
976
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. 61
18348260 2008
977
The Pediatric Cardiomyopathy Registry: 1995-2007. 61
19343086 2008
978
[SOS1 mutation: a new cause of Noonan syndrome]. 61
18394382 2008
979
Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. 61
18540254 2008
980
Usefulness of lymphoscintigraphy in demonstrating lymphedema in patients with Noonan syndrome. 61
18287856 2008
981
SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients. 61
18064648 2008
982
[New molecular mechanisms of growth hormone insensitivity]. 61
18207712 2008
983
Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization. 61
18203203 2008
984
Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment. 61
18663312 2008
985
Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism. 61
18080325 2008
986
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 61
19020799 2008
987
Noonan syndrome: psychological and psychiatric aspects. 61
18080322 2008
988
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. 61
18651097 2008
989
Associated malformations in cases with congenital diaphragmatic hernia. 61
18990989 2008
990
[Variability in clinical expression of Noonan syndrome--the report of two familial cases]. 61
18717048 2008
991
Orofacial aspects in Noonan syndrome: 2 case report. 61
18505655 2008
992
Parotitis and kawasaki disease in a child with Noonan syndrome. 61
18162955 2008
993
Costello syndrome and related disorders. 61
18025929 2007
994
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 61
17704260 2007
995
SHP-2 is required for the maintenance of cardiac progenitors. 61
17928416 2007
996
Noonan Syndrome with Multiple Lentigines 61
20301557 2007
997
Biochemical and functional characterization of germ line KRAS mutations. 61
17875937 2007
998
Central giant cell granuloma of the jaw: a review of the literature with emphasis on therapy options. 61
17703964 2007
999
Supporting children with Noonan syndrome. 61
18047172 2007
1000
Neurons or glia? Can SHP2 know it all? 61
17971566 2007
1001
Rare causes of scoliosis and spine deformity: experience and particular features. 61
17956633 2007
1002
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 61
17586837 2007
1003
Anesthetic management in a pediatric patient with Noonan syndrome, mastocytosis, and von Willebrand disease: a case report. 61
17711156 2007
1004
Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. 61
17661820 2007
1005
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 61
17603482 2007
1006
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 61
17603483 2007
1007
Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. 61
17641779 2007
1008
Photo essay--Noonan syndrome. 61
17640055 2007
1009
Noonan syndrome. 61
17639592 2007
1010
Novel mitochondrial DNA mutations implicated in Noonan syndrome. 61
17092585 2007
1011
De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. 61
17601930 2007
1012
Noonan syndrome: a case report. 61
17951933 2007
1013
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. 61
17412879 2007
1014
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. 61
17361219 2007
1015
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. 61
17515436 2007
1016
Large chondroma of the dural convexity in a patient with Noonan's syndrome. Case report and review of the literature. 61
17622464 2007
1017
Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. 61
17497712 2007
1018
Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance. 61
17598979 2007
1019
The genetics of congenital heart disease: a review of recent developments. 61
17413276 2007
1020
Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature. 61
17483716 2007
1021
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene. 61
17483702 2007
1022
Giant cell lesions with a Noonan-like phenotype: a case report. 61
17486189 2007
1023
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 61
17366577 2007
1024
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 61
17546245 2007
1025
Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome. 61
17442246 2007
1026
A new NDE1/PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome. 61
17301821 2007
1027
Prevalence of migraine in Noonan syndrome. 61
17376109 2007
1028
Respiratory failure, juvenile myelomonocytic leukemia, and neonatal Noonan syndrome. 61
17414570 2007
1029
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2. 61
17177198 2007
1030
Tyr66 acts as a conformational switch in the closed-to-open transition of the SHP-2 N-SH2-domain phosphotyrosine-peptide binding cleft. 61
17378938 2007
1031
Detection of bocavirus DNA in nasopharyngeal aspirates of a child with bronchiolitis. 61
16968654 2007
1032
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway? 61
17324647 2007
1033
An unexpected new role of mutant Ras: perturbation of human embryonic development. 61
17211612 2007
1034
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 61
17054105 2007
1035
Deregulated Ras signaling in developmental disorders: new tricks for an old dog. 61
17208427 2007
1036
HRAS and the Costello syndrome. 61
17250658 2007
1037
Small bowel bezoar in a patient with Noonan syndrome: report of a case. 61
17435641 2007
1038
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 61
17339163 2007
1039
Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene. 61
17184563 2007
1040
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 61
17056636 2007
1041
The natural history of Noonan syndrome: a long-term follow-up study. 61
16990350 2007
1042
Persistence of nuchal edema and distended jugular lymphatic sacs in Noonan syndrome. 61
17369688 2007
1043
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation. 61
17052965 2007
1044
Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation. 61
16078230 2007
1045
Noonan syndrome. 61
17222357 2007
1046
Expanding the genetic spectrum of Noonan syndrome. 61
18174700 2007
1047
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. 61
17468812 2007
1048
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 61
17143282 2007
1049
Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 61
17143285 2007
1050
Biventricular hypertropic obstructive cardiomyopathy in Noonan syndrome. 61
17055082 2007
1051
Noonan syndrome and correction of the webbed neck. 61
17293292 2007
1052
Pediatric topic: expanding the spectrum of Noonan syndrome. 61
18174699 2007
1053
KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation. 61
24790354 2007
1054
Noonan syndrome and related disorders: alterations in growth and puberty. 61
17177115 2006
1055
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. 61
17103458 2006
1056
The cardiofaciocutaneous syndrome. 61
16825433 2006
1057
[Emergency thoraco amniotic shunting in cases with compressive pleural effusion with hydrops: A retrospective study of 60 cases]. 61
17088764 2006
1058
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. 61
16987887 2006
1059
Syndrome identification based on 2D analysis software. 61
16773127 2006
1060
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. 61
16533526 2006
1061
Double-chambered right ventricle in an adult with Noonan syndrome. 61
16924159 2006
1062
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. 61
16921267 2006
1063
Discovery of a novel shp2 protein tyrosine phosphatase inhibitor. 61
16717135 2006
1064
Noonan syndrome and scrotal lymphedema: primary or secondary? 61
16918647 2006
1065
Aortic root dilatation is a rare complication of Noonan syndrome. 61
16830086 2006
1066
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 61
16773572 2006
1067
Diffuse-type tenosynovial giant cell tumor in association with neurofibromatosis type 1-Noonan syndrome: possibly more than a chance relationship. 61