Detalhe da pesquisa
1.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32220290
2.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31735293
3.
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Brain
; 144(7): 2092-2106, 2021 08 17.
Artigo
Inglês
| MEDLINE | ID: mdl-33704440
4.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33173220
5.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30739909
6.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30679821
7.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25439098
8.
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Genome Res
; 23(1): 23-33, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23034409
9.
Molecular diagnostic experience of whole-exome sequencing in adult patients.
Genet Med
; 18(7): 678-85, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26633545
10.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Brain
; 143(4): e31, 2020 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32227164
11.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Proc Natl Acad Sci U S A
; 109(21): 7974-81, 2012 May 22.
Artigo
Inglês
| MEDLINE | ID: mdl-22566635
12.
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.
Hum Mol Genet
; 21(13): 3001-12, 2012 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22493002
13.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Hum Mol Genet
; 21(15): 3345-55, 2012 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22543972
14.
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Nat Genet
; 34(3): 308-12, 2003 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-12778173
15.
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
Nat Genet
; 35(1): 90-6, 2003 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-12897784
16.
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
Am J Med Genet A
; 158A(10): 2557-63, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22903639
17.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nat Genet
; 53(7): 1006-1021, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34211179
18.
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Hum Mutat
; 31(7): 840-50, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20506139
19.
Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5.
Mol Cell Biol
; 27(19): 6889-902, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17636019
20.
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Eur J Hum Genet
; 28(1): 76-87, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31395947