Search details
1.
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
Proc Natl Acad Sci U S A
; 112(25): E3236-45, 2015 Jun 23.
Article
in English
| MEDLINE | ID: mdl-26056285
2.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Am J Hum Genet
; 88(6): 767-777, 2011 Jun 10.
Article
in English
| MEDLINE | ID: mdl-21664999
3.
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Am J Hum Genet
; 86(5): 686-95, 2010 May 14.
Article
in English
| MEDLINE | ID: mdl-20398886
4.
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Mol Genet Metab
; 109(3): 289-95, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23680354
5.
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Am J Hum Genet
; 84(6): 801-6, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19481195
6.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Am J Hum Genet
; 85(5): 581-92, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19853238
7.
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Am J Hum Genet
; 82(1): 19-31, 2008 Jan.
Article
in English
| MEDLINE | ID: mdl-18179881
8.
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.
Mol Vis
; 16: 2916-22, 2010 Dec 31.
Article
in English
| MEDLINE | ID: mdl-21203346
9.
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Hum Mutat
; 29(8): 1017-27, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18425797
10.
Developmental and tissue expression of Xenopus laevis RPGR.
Invest Ophthalmol Vis Sci
; 47(1): 348-56, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16384984
11.
Inherited eye disease: cause and late effect.
Trends Mol Med
; 11(10): 449-55, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16153893
12.
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Am J Ophthalmol
; 141(2): 418-20, 2006 Feb.
Article
in English
| MEDLINE | ID: mdl-16458719
13.
Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
Am J Med Genet A
; 152A(9): 2390-3, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20683995
14.
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Invest Ophthalmol Vis Sci
; 45(10): 3683-9, 2004 Oct.
Article
in English
| MEDLINE | ID: mdl-15452077
15.
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Orphanet J Rare Dis
; 8: 68, 2013 May 04.
Article
in English
| MEDLINE | ID: mdl-23642083
16.
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Invest Ophthalmol Vis Sci
; 52(6): 3730-6, 2011 Jun 01.
Article
in English
| MEDLINE | ID: mdl-21330666
17.
Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.
Invest Ophthalmol Vis Sci
; 52(11): 7859-65, 2011 Oct 04.
Article
in English
| MEDLINE | ID: mdl-21896847
18.
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.
Hum Mol Genet
; 16(14): 1773-82, 2007 Jul 15.
Article
in English
| MEDLINE | ID: mdl-17517692
19.
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
Eur J Hum Genet
; 20(5)2012 May.
Article
in English
| MEDLINE | ID: mdl-22234150
20.
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
Am J Hum Genet
; 81(2): 292-303, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17668379