Detalhe da pesquisa
1.
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
Cell
; 151(5): 1097-112, 2012 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23178126
2.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101119, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465576
3.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077597
4.
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
Hum Mol Genet
; 28(18): 3113-3125, 2019 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211835
5.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576
6.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471716
7.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A
; 179(10): 2075-2082, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361404
8.
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Am J Med Genet B Neuropsychiatr Genet
; 177(8): 736-745, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30421579
9.
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Hum Mutat
; 38(10): 1348-1354, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493438
10.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Am J Hum Genet
; 94(4): 547-58, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24656866
11.
Somatic mutations in cerebral cortical malformations.
N Engl J Med
; 371(8): 733-43, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25140959
12.
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
Ann Neurol
; 77(4): 720-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25599672
13.
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Am J Med Genet A
; 170A(2): 435-440, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26463574
14.
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Am J Hum Genet
; 91(3): 541-7, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22958903
15.
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
Am J Med Genet A
; 167A(12): 3096-102, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26364767
16.
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
Am J Hum Genet
; 88(5): 536-47, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21529751
17.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585811
18.
TUBB3 and KIF21A in neurodevelopment and disease.
Front Neurosci
; 17: 1226181, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600020
19.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234731
20.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Nat Genet
; 55(7): 1149-1163, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386251