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1.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31999394
2.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clin Genet
; 97(3): 426-436, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31721179
3.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30670881
4.
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Genet Med
; 19(4): 457-466, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27608171
5.
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
Hum Mutat
; 36(1): 39-42, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25346251
6.
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
Sci Rep
; 11(1): 117, 2021 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33420188
7.
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Hum Mutat
; 31(10): E1709-66, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20683928
8.
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Hum Mutat
; 29(11): E205-19, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18642388
9.
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
PLoS One
; 12(1): e0170038, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28076437
10.
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
Invest Ophthalmol Vis Sci
; 52(1): 324-33, 2011 Jan 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-20881294
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