Detalhe da pesquisa
1.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759666
2.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
3.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058429
4.
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Hum Mutat
; 40(5): 578-587, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710461
5.
Analysis of the ABCA4 genomic locus in Stargardt disease.
Hum Mol Genet
; 23(25): 6797-806, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082829
6.
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.
Am J Hum Genet
; 92(3): 415-21, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23395477
7.
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Ophthalmology
; 123(1): 9-18, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507665
8.
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Am J Hum Genet
; 88(3): 382-90, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21397065
9.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Mol Vis
; 20: 753-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24940029
10.
Temporal changes in incidence, prevalence and causes of childhood visual impairment - Learnings from 45 years with the National Danish Registry of Children with Visual Impairment.
Acta Ophthalmol
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662528
11.
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Hum Mol Genet
; 20(4): 719-30, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21127010
12.
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
BMC Med Genet
; 13: 65, 2012 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22857269
13.
Absence of NR2E1 mutations in patients with aniridia.
Mol Vis
; 18: 2770-82, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23213277
14.
An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.
Mol Vis
; 18: 720-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22509102
15.
Prevalence of Open-angle Glaucoma in the Faroese Population.
J Glaucoma
; 31(2): 72-78, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342283
16.
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Hum Mutat
; 32(12): 1398-406, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21882291
17.
A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.
Mol Vis
; 17: 1485-92, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21677792
18.
Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Ophthalmology
; 118(5): 888-94, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211845
19.
Oliver McFarlane syndrome: two new cases and a review of the literature.
Ophthalmic Genet
; 42(4): 464-473, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33818269
20.
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Hum Mutat
; 31(4): 429-36, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20120035