Detalhe da pesquisa
1.
Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26.
Proc Natl Acad Sci U S A
; 119(20): e2118510119, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35561216
2.
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Clin Genet
; 104(4): 418-426, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37321975
3.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clin Genet
; 101(1): 127-133, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34612517
4.
Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
Cleft Palate Craniofac J
; 57(5): 606-615, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064904
5.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
J Inherit Metab Dis
; 42(5): 809-817, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177572
6.
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Hum Mol Genet
; 24(20): 5789-804, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231217
7.
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ophthalmology
; 123(5): 1143-50, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26872967
8.
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
Neurogenetics
; 16(1): 69-75, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159689
9.
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Am J Hum Genet
; 86(5): 686-95, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398886
10.
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
Nat Genet
; 36(4): 411-6, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15004558
11.
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Clin Dysmorphol
; 32(1): 7-13, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36503917
12.
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
Clin Exp Ophthalmol
; 40(5): 476-83, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22574936
13.
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina.
J Biol Chem
; 285(39): 30192-202, 2010 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660596
14.
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
Hum Mutat
; 29(1): 83-90, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17721977
15.
C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation.
Sci Rep
; 8(1): 1643, 2018 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29374201
16.
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Hum Mutat
; 28(10): 968-77, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17492639
17.
Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.
Eur J Med Genet
; 60(10): 527-532, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711741
18.
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Invest Ophthalmol Vis Sci
; 47(8): 3565-72, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16877430
19.
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Orphanet J Rare Dis
; 11(1): 125, 2016 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27628848
20.
Further delineation of the KAT6B molecular and phenotypic spectrum.
Eur J Hum Genet
; 23(9): 1165-70, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424711