Detalhe da pesquisa
1.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Am J Hum Genet
; 106(2): 234-245, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31928709
2.
Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans.
Mol Psychiatry
; 2022 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450866
3.
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Am J Med Genet A
; 188(10): 2988-2998, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35924478
4.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
5.
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
J Med Genet
; 57(7): 461-465, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924697
6.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain
; 142(9): 2617-2630, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327001
7.
Extraocular ectoderm triggers dorsal retinal fate during optic vesicle evagination in zebrafish.
Dev Biol
; 371(1): 57-65, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22921921
8.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414205
9.
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
em Inglês
| MEDLINE | ID: mdl-31395947
10.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Sci Adv
; 6(49)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33268356
11.
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.
Eur J Hum Genet
; 26(3): 420-427, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358613
12.
Canonical Wnt signaling is required for the maintenance of dorsal retinal identity.
Development
; 135(24): 4101-11, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19004855