| 1 |
Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability. ( 29209992
)
|
Li Y....Devlin J.J.
|
2018 |
| 2 |
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients. ( 29130599
)
|
Osio D....Van Esch H.
|
2018 |
| 3 |
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. ( 29475819
)
|
Pascolini G....Digilio M.C.
|
2018 |
| 4 |
Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability. ( 29450820
)
|
Karalunas S.L....Nigg J.T.
|
2018 |
| 5 |
GnRH Antagonist and Antipsychotic Medication for Pedophilia Comorbid with Schizophrenia and Intellectual Disability. ( 29938360
)
|
Chen Y.H....Tzeng D.S.
|
2018 |
| 6 |
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. ( 29619836
)
|
Liu Z....Wu N.
|
2018 |
| 7 |
Biallelic variants in KIF14 cause intellectual disability with microcephaly. ( 29343805
)
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Makrythanasis P....Antonarakis S.E.
|
2018 |
| 8 |
Airway management during general anesthesia in an intellectually disabled patient with undiagnosed tracheomalacia. ( 29744388
)
|
Shin S....Kim S.
|
2018 |
| 9 |
Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? ( 29881807
)
|
Tye C....Bolton P.F.
|
2018 |
| 10 |
I^IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. ( 29861105
)
|
Wang C.C....Rasband M.N.
|
2018 |
| 11 |
Enhancing the comprehension of visual metaphors in individuals with intellectual disability with or without down syndrome. ( 29413426
)
|
Shnitzer-Meirovich S....Mashal N.
|
2018 |
| 12 |
A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. ( 29191496
)
|
Jensen M....Tassone F.
|
2018 |
| 13 |
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability. ( 29437235
)
|
Rangel-Sosa M.M....CA^rdova-Fletes C.
|
2018 |
| 14 |
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. ( 28778788
)
|
Radha Rama Devi A....Lingappa L.
|
2018 |
| 15 |
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. ( 29350304
)
|
Isohanni P....Suomalainen A.
|
2018 |
| 16 |
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. ( 29907796
)
|
Diets I.J....Kleefstra T.
|
2018 |
| 17 |
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. ( 29884796
)
|
Zollino M....Doronzio P.N.
|
2018 |
| 18 |
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ( 29574747
)
|
Baer S....Morin G.
|
2018 |
| 19 |
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy. ( 29781262
)
|
Schepis C....CalA- F.
|
2018 |
| 20 |
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. ( 29772390
)
|
Kerner-Rossi M....Dobrenis K.
|
2018 |
| 21 |
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. ( 29374277
)
|
Verkerk A.J.M.H....Oostra B.A.
|
2018 |
| 22 |
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. ( 29728705
)
|
Frints S.G.M....Kalscheuer V.M.
|
2018 |
| 23 |
Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study. ( 29431619
)
|
Kinnear D....Cooper S.A.
|
2018 |
| 24 |
A new therapy prevents intellectual disability in mouse with phenylketonuria. ( 29661557
)
|
Pascucci T....Leuzzi V.
|
2018 |
| 25 |
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. ( 29510240
)
|
Moortgat S....Maystadt I.
|
2018 |
| 26 |
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. ( 29437797
)
|
Berland S....Houge G.
|
2018 |
| 27 |
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene <i>GPR56</i> in Pakistani Intellectual Disability Families. ( 29707406
)
|
Sawal H.A....Rafiq M.A.
|
2018 |
| 28 |
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. ( 29066376
)
|
Bourque D.K....Dyment D.A.
|
2018 |
| 29 |
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859
)
|
Guissart C....KA1ry S.
|
2018 |
| 30 |
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. ( 29427787
)
|
Cosemans N....Peeters H.
|
2018 |
| 31 |
Effects of music on seizure frequency in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy. ( 28953798
)
|
D'Alessandro P....Elisei S.
|
2017 |
| 32 |
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). ( 28783747
)
|
Hayashi S....Inazawa J.
|
2017 |
| 33 |
New intellectual disability syndrome identified: WDR26 haploinsufficiency is rare but could provide explanations to some patients. ( 28921851
)
|
|
2017 |
| 34 |
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. ( 28837161
)
|
Ansar M....Antonarakis S.E.
|
2017 |
| 35 |
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. ( 28236339
)
|
Musante L....Kuss A.W.
|
2017 |
| 36 |
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806
)
|
Al Kaissi A....Kircher S.G.
|
2017 |
| 37 |
A cluster randomised control trial of a multi-component weight management programme for adults with intellectual disabilities and obesity. ( 28831953
)
|
Harris L....Melville C.
|
2017 |
| 38 |
An application of Bandura's 'Four Sources of Self-Efficacy' to the self-management of type 2 diabetes in people with intellectual disability: An inductive and deductive thematic analysis. ( 28918307
)
|
Maine A....Brown M.
|
2017 |
| 39 |
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity. ( 28735298
)
|
Meerschaut I....Callewaert B.
|
2017 |
| 40 |
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. ( 29096607
)
|
Thiffault I....Saunders C.
|
2017 |
| 41 |
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. ( 28211987
)
|
Keen C....Zackai E.H.
|
2017 |
| 42 |
Loss of Function of KCNC1 is associated with intellectual disability without seizures. ( 28145425
)
|
Poirier K....Bienvenu T.
|
2017 |
| 43 |
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. ( 27862890
)
|
Dennert N....Zink A.M.
|
2017 |
| 44 |
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. ( 28323383
)
|
Zweier M....Rauch A.
|
2017 |
| 45 |
Identification and characterization of a missense mutation in the O-linked I^-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. ( 28302723
)
|
Vaidyanathan K....Wells L.
|
2017 |
| 46 |
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. ( 29198722
)
|
Palmer E.E....Gecz J.
|
2017 |
| 47 |
Intellectual Disability and Being Human: A Care Ethics Model Rogers Chrissie Intellectual Disability and Being Human: A Care Ethics Model 174pp AL95 Routledge 9780415664585 0415664586 [Formula: see text]. ( 28075310
)
|
|
2017 |
| 48 |
The experience of adult children of mothers with intellectual disability: A qualitative retrospective study from Poland. ( 28070932
)
|
WoA8owicz-Ruszkowska A....McConnell D.
|
2017 |
| 49 |
TBCK-related intellectual disability syndrome: Case study of two patients. ( 27748029
)
|
Mandel H....Shalev S.
|
2017 |
| 50 |
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. ( 28863211
)
|
Duan Y....Duan S.
|
2017 |
