| 1 |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
61
|
Lee CL...Lin SP
|
31837205 |
2020 |
| 2 |
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
61
|
Castellanos E...Serra E
|
31573083 |
2020 |
| 3 |
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
61
|
Chinton J...Obregon MG
|
31825158 |
2020 |
| 4 |
First case report of tongue squamous cell carcinoma in a neurofibromatosis type 1 patient and review of pathogenesis of carcinoma in neurofibromatosis type 1.
61
|
Ghose S...Mazumdar A
|
32031137 |
2020 |
| 5 |
Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer.
61
|
Sherekar M...Esposito D
|
31836666 |
2020 |
| 6 |
NRAS associated RASopathy and embryonal rhabdomyosarcoma.
61
|
Garren B...Hogue JS
|
31697451 |
2020 |
| 7 |
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
61
|
Gross AM...Yohe ME
|
31913576 |
2020 |
| 8 |
[Allele-specific inhibitors of mutant KRAS are in the focus of RASopathy consortium].
61
|
Nyiri K...Timar J
|
31821386 |
2019 |
| 9 |
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
61
|
Gripp KW...Ratner N
|
31825160 |
2019 |
| 10 |
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
61
|
Kanavy DM...Berg JS
|
31783775 |
2019 |
| 11 |
The impact of RASopathy-associated mutations on CNS development in mice and humans.
61
|
Kang M...Lee YS
|
31752929 |
2019 |
| 12 |
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
61
|
Chinton J...Obregon MG
|
31560489 |
2019 |
| 13 |
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
61
|
Stuurman KE...Rinne T
|
31040167 |
2019 |
| 14 |
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
61
|
Nissim S...Goessling W
|
31406347 |
2019 |
| 15 |
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
61
|
Gripp KW...Rauen KA
|
31222966 |
2019 |
| 16 |
Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST).
61
|
Yla-Outinen H...Peltonen J
|
31397088 |
2019 |
| 17 |
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
|
Biard JM...Sznajer Y
|
31336229 |
2019 |
| 18 |
Cardiac transplantation in children with Noonan syndrome.
61
|
McCallen LM...Chatfield KC
|
31259454 |
2019 |
| 19 |
LZTR1: Genotype Expansion in Noonan Syndrome.
61
|
Guemes M...Argente J
|
31533111 |
2019 |
| 20 |
Structural basis of the atypical activation mechanism of KRASV14I.
61
|
Bera AK...Westover KD
|
31341022 |
2019 |
| 21 |
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
61
|
Suzuki H...Kosaki K
|
31173466 |
2019 |
| 22 |
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
61
|
Motta M...De Luca A
|
31059601 |
2019 |
| 23 |
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
61
|
Calcagni G...Tartaglia M
|
31277675 |
2019 |
| 24 |
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
61
|
Capri Y...Zenker M
|
31130282 |
2019 |
| 25 |
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
61
|
Murdock DR...Gibbs RA
|
30622101 |
2019 |
| 26 |
Increased nuchal translucency: results from microarray and RASopathy disorders testing.
61
|
Sinajon P...Chong K
|
31115076 |
2019 |
| 27 |
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
61
|
Motta M...Zenker M
|
31108500 |
2019 |
| 28 |
Cardiac Manifestations of Noonan Syndrome.
61
|
Karnik R...Geiger M
|
31115199 |
2019 |
| 29 |
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
61
|
Isik E...Ozkinay F
|
31088041 |
2019 |
| 30 |
NF1 Somatic Mutation in Dystrophic Scoliosis.
61
|
Margraf RL...Stevenson DA
|
30778836 |
2019 |
| 31 |
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning.
61
|
Holter MC...Newbern JM
|
31017896 |
2019 |
| 32 |
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
61
|
Aljeaid D...Zhang W
|
30762279 |
2019 |
| 33 |
Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom.
61
|
Norrish G...Kaski JP
|
30535072 |
2019 |
| 34 |
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
61
|
Motta M...Tartaglia M
|
30481304 |
2019 |
| 35 |
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
61
|
Chen H...Fu L
|
30732632 |
2019 |
| 36 |
M-Ras/Shoc2 signaling modulates E-cadherin turnover and cell-cell adhesion during collective cell migration.
61
|
Kota P...Morrison DK
|
30808747 |
2019 |
| 37 |
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
61
|
Ji J...Biegel JA
|
30803559 |
2019 |
| 38 |
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.
61
|
Nagatsuma M...Morio T
|
30443000 |
2019 |
| 39 |
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.
61
|
Torchia D...Happle R
|
30827948 |
2019 |
| 40 |
Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome.
61
|
Schwartz NS...Regelmann MO
|
31649741 |
2019 |
| 41 |
RASopathy in Patients With Isolated Sagittal Synostosis.
61
|
Davis AA...Nischal KK
|
31192281 |
2019 |
| 42 |
MRAS: A Close but Understudied Member of the RAS Family.
61
|
Young LC...Rodriguez-Viciana P
|
29311130 |
2018 |
| 43 |
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant.
61
|
Rodriguez F...Aracena M
|
30430033 |
2018 |
| 44 |
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.
61
|
Pezzani L...Iascone M
|
30462361 |
2018 |
| 45 |
RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges.
61
|
Bustelo XR...Rodriguez-Fdez S
|
30007125 |
2018 |
| 46 |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
61
|
Gelb BD...ClinGen RASopathy Working Group
|
29493581 |
2018 |
| 47 |
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
61
|
Grant AR...Zenker M
|
30311384 |
2018 |
| 48 |
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing.
61
|
Grant AR...Rehm HL
|
29945942 |
2018 |
| 49 |
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
61
|
Tajan M...Yart A
|
29924299 |
2018 |
| 50 |
Cardiovascular disease in Noonan syndrome.
61
|
Pierpont ME...Digilio MC
|
30024444 |
2018 |
