| 1 |
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. ( 30531907
)
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de Oliveira JF...Franchini KG
|
2019 |
| 2 |
UBE2A-related X-linked intellectual disability. ( 30179896
)
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Stevenson RE...Schwartz CE
|
2019 |
| 3 |
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 |
| 4 |
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 |
| 5 |
Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability. ( 29450820
)
|
Karalunas S.L....Nigg J.T.
|
2018 |
| 6 |
GnRH Antagonist and Antipsychotic Medication for Pedophilia Comorbid with Schizophrenia and Intellectual Disability. ( 29938360
)
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Chen Y.H....Tzeng D.S.
|
2018 |
| 7 |
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 |
| 8 |
Biallelic variants in KIF14 cause intellectual disability with microcephaly. ( 29343805
)
|
Makrythanasis P....Antonarakis S.E.
|
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
)
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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
)
|
|
2018 |
| 19 |
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy. ( 29781262
)
|
|
2018 |
| 20 |
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. ( 29772390
)
|
|
2018 |
| 21 |
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. ( 29374277
)
|
|
2018 |
| 22 |
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. ( 29728705
)
|
|
2018 |
| 23 |
A new therapy prevents intellectual disability in mouse with phenylketonuria. ( 29661557
)
|
|
2018 |
| 24 |
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. ( 29510240
)
|
|
2018 |
| 25 |
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
)
|
|
2018 |
| 26 |
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene <i>GPR56</i> in Pakistani Intellectual Disability Families. ( 29707406
)
|
|
2018 |
| 27 |
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
)
|
|
2018 |
| 28 |
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859
)
|
|
2018 |
| 29 |
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. ( 29427787
)
|
|
2018 |
| 30 |
A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability. ( 29593478
)
|
Ben?tez EO...Mutchinick OM
|
2018 |
| 31 |
E-Health Interventions for Adult and Aging Population With Intellectual Disability: A Review. ( 30534103
)
|
V?zquez A...Cruz M
|
2018 |
| 32 |
Invariance of parent ratings of attention deficit hyperactivity disorder symptoms for children with and without intellectual disability. ( 30156358
)
|
Arias VB...Servera M
|
2018 |
| 33 |
Attention deficit hyperactivity disorder in genetically determined intellectual disability. ( 30035503
)
|
Operto FF...Coppola G
|
2018 |
| 34 |
Attention Deficit Hyperactivity Disorder in people with Intellectual Disability. ( 30124186
)
|
Perera B
|
2018 |
| 35 |
Continuous performance test in children with intellectual disability and attention deficit hyperactivity disorder. ( 29474120
)
|
Celeste PM...Guillermo A
|
2018 |
| 36 |
Ambulatory Care Sensitive Admissions in Individuals With Autism Spectrum Disorder, Intellectual Disability, and Population Controls. ( 30549435
)
|
Hand BN...Carpenter LA
|
2018 |
| 37 |
Problem behaviours and Major Depressive Disorder in adults with intellectual disability and autism. ( 30551323
)
|
Baudewijns L...Bertelli MO
|
2018 |
| 38 |
Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model. ( 30513623
)
|
Kozol RA
|
2018 |
| 39 |
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. ( 30460678
)
|
Tejada MI...Ocio I
|
2018 |
| 40 |
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability. ( 30472483
)
|
Pacault M...Isidor B
|
2018 |
| 41 |
Market Segmentation as a Tool to Inform Health and Social Services Policy and Planning: The Case of Autism Spectrum Disorder and Intellectual Disability. ( 30474591
)
|
Klag M...Ouellette-Kuntz H
|
2018 |
| 42 |
First episode psychosis and comorbid ADHD, autism and intellectual disability. ( 30384107
)
|
Str?lin P...Hetta J
|
2018 |
| 43 |
Differences in visuospatial processing in individuals with nonverbal learning disability or autism spectrum disorder without intellectual disability. ( 30335415
)
|
Mammarella IC...Zoccante L
|
2018 |
| 44 |
Child maltreatment in autism spectrum disorder and intellectual disability: results from a population-based sample. ( 30368827
)
|
McDonnell CG...Carpenter LA
|
2018 |
| 45 |
Sleep Problems in Adults With Autism Spectrum Disorder and Intellectual Disability. ( 30273974
)
|
Ballester P...Peir? AM
|
2018 |
| 46 |
Speech and language profiles in 4- to 6-year-old children with early diagnosis of autism spectrum disorder without intellectual disability. ( 30275695
)
|
Kjellmer L...Norrelgen F
|
2018 |
| 47 |
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder. ( 30213762
)
|
Sakaguchi A...Takenouchi T
|
2018 |
| 48 |
Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders. ( 30258496
)
|
Ceylan AC...Erdogan M
|
2018 |
| 49 |
Brief Report: Sibling Feelings Toward their Brother or Sister With or Without Autism or Intellectual Disability. ( 30043352
)
|
Shivers CM...McGregor CM
|
2018 |
| 50 |
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder. ( 29770430
)
|
L?vy J...Tabet AC
|
2018 |
