Detalhe da pesquisa
1.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
2.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
3.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Hum Mutat
; 42(7): 848-861, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856728
4.
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
Mov Disord
; 35(7): 1224-1232, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369665
5.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
6.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
7.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(6): 790-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637653
8.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166480
9.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26443594
10.
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
Am J Hum Genet
; 94(3): 470-8, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607389
11.
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
Hum Mutat
; 35(3): 377-83, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357492
12.
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Am J Med Genet A
; 164A(7): 1821-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715367
13.
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.
Prenat Diagn
; 39(5): 388-393, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30779209
14.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(12): 2110-2112, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447178
15.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Am J Hum Genet
; 86(2): 185-95, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159109
16.
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Am J Med Genet A
; 161A(12): 3063-71, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24039113
17.
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nat Genet
; 30(4): 436-40, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11889465
18.
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
BMC Med Genet
; 12: 17, 2011 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21251267
19.
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
Turk J Pediatr
; 52(5): 525-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21434539
20.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling.
Biol Psychiatry
; 87(2): 100-112, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443933