Detalhe da pesquisa
1.
Characterization of an eye field-like state during optic vesicle organoid development.
Development
; 150(15)2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306293
2.
Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip.
PLoS Genet
; 13(4): e1006677, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28384324
3.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
4.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
5.
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genet Med
; 19(8): 900-908, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28151491
6.
FRA2A is a CGG repeat expansion associated with silencing of AFF3.
PLoS Genet
; 10(4): e1004242, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24763282
7.
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Hum Mol Genet
; 23(10): 2569-79, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24363063
8.
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
Am J Hum Genet
; 93(6): 1126-34, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290376
9.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
10.
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Hum Mol Genet
; 21(18): 3969-83, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692683
11.
Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse.
Genes (Basel)
; 13(10)2022 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292683
12.
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
PLoS One
; 17(11): e0268149, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413568
13.
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
PLoS One
; 16(8): e0256181, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388204
14.
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Nat Genet
; 51(7): 1192, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31168063
15.
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Nat Genet
; 50(3): 329-332, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29379197
16.
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
Nat Genet
; 50(5): 767, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29440723
17.
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.
Sci Rep
; 7: 46019, 2017 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378778
18.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(2): 238-248, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067909
19.
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome.
Nat Commun
; 6: 6904, 2015 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908307
20.
Identification and Validation of a Putative Polycomb Responsive Element in the Human Genome.
PLoS One
; 8(6): e67217, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23805300