Search details
1.
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.
Article
in English
| MEDLINE | ID: mdl-30710461
2.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Hum Mutat
; 40(10): 1749-1759, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31212395
3.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30643219
4.
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Ophthalmology
; 123(1): 9-18, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26507665
5.
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.
Ophthalmology
; 123(9): 1865-73, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27320518
6.
Long-term follow-up of two patients with oligocone trichromacy.
Doc Ophthalmol
; 131(2): 149-58, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26138751
7.
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
Hum Mutat
; 35(10): 1179-86, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24944099
8.
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
Ophthalmology
; 121(12): 2406-14, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25085631
9.
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
Mol Vis
; 17: 309-22, 2011 Jan 29.
Article
in English
| MEDLINE | ID: mdl-21293734
10.
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Ophthalmology
; 118(3): 564-73, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21035867
11.
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
Ophthalmology
; 118(6): 1130-6, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21269699
12.
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Hum Mutat
; 31(3): E1241-50, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20104588
13.
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Sci Rep
; 8(1): 6840, 2018 05 01.
Article
in English
| MEDLINE | ID: mdl-29717154
14.
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
Sci Rep
; 7(1): 7512, 2017 08 08.
Article
in English
| MEDLINE | ID: mdl-28790370
15.
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
Ophthalmic Genet
; 38(6): 511-519, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28635424
16.
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Sci Rep
; 6: 32544, 2016 09 07.
Article
in English
| MEDLINE | ID: mdl-27601084
17.
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Am J Ophthalmol
; 160(2): 364-372.e1, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25982971
18.
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Am J Ophthalmol
; 159(2): 302-14, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25447119
19.
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
20.
Can we still hear the Cro-magnon man?
Acta Med Hist Adriat
; 10(2): 331-8, 2012.
Article
in English
| MEDLINE | ID: mdl-23560760