Detalhe da pesquisa
1.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
PLoS Genet
; 14(12): e1007866, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586382
2.
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
3.
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Hum Mol Genet
; 25(7): 1382-91, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908622
4.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Hum Mutat
; 38(8): 942-946, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493397
5.
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Am J Hum Genet
; 94(2): 295-302, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462371
6.
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
7.
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
PLoS Genet
; 10(5): e1004359, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24809698
8.
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
9.
A trans-acting protein effect causes severe eye malformation in the Mp mouse.
PLoS Genet
; 9(12): e1003998, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24348270
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.
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
PLoS Genet
; 7(7): e1002114, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750680
12.
Cell adhesion marker expression dynamics during fusion of the optic fissure.
Gene Expr Patterns
; 50: 119344, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37844855
13.
Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.
Biomolecules
; 13(2)2023 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36830662
14.
Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse.
Genes (Basel)
; 13(10)2022 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292683
15.
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
16.
Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure.
Front Cell Dev Biol
; 8: 620774, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33505973
17.
The transcriptional signature associated with human motile cilia.
Sci Rep
; 10(1): 10814, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616903
18.
Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion.
Elife
; 82019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31162046
19.
Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed.
G3 (Bethesda)
; 9(3): 943-954, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696701
20.
An analysis of anterior segment development in the chicken eye.
Mech Dev
; 150: 42-49, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526791