Detalhe da pesquisa
1.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Proc Natl Acad Sci U S A
; 118(25)2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161264
2.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531666
3.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Am J Hum Genet
; 100(3): 537-545, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190459
4.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Res
; 27(8): 1323-1335, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28630177
5.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Genet Med
; 22(6): 1040-1050, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103185
6.
Synaptic, transcriptional and chromatin genes disrupted in autism.
Nature
; 515(7526): 209-15, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363760
7.
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Proc Natl Acad Sci U S A
; 113(38): E5598-607, 2016 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27601654
8.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Am J Hum Genet
; 96(5): 709-19, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865492
9.
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
10.
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
11.
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
12.
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Hum Mol Genet
; 23(13): 3456-66, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501276
13.
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nat Genet
; 39(8): 957-9, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17632512
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.
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
PLoS Genet
; 8(4): e1002635, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511880
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.
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Am J Hum Genet
; 87(6): 882-9, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109224
18.
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Nat Genet
; 36(9): 1008-13, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15322546
19.
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
Nat Genet
; 36(1): 69-76, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14647276
20.
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
Am J Hum Genet
; 85(6): 897-902, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004763