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1.
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
Am J Med Genet A
; 194(5): e63532, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38192009
2.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32817297
3.
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Hum Mutat
; 42(4): 323-341, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33538369
4.
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Retina
; 41(8): 1771-1779, 2021 Aug 01.
Article
in English
| MEDLINE | ID: mdl-33315831
5.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Int J Mol Sci
; 22(24)2021 Dec 10.
Article
in English
| MEDLINE | ID: mdl-34948090
6.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci
; 22(12)2021 Jun 15.
Article
in English
| MEDLINE | ID: mdl-34203883
7.
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Int J Mol Sci
; 22(23)2021 Nov 23.
Article
in English
| MEDLINE | ID: mdl-34884448
8.
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
Hum Mutat
; 40(1): 31-35, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30341801
9.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30825406
10.
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Hum Mol Genet
; 26(22): 4367-4374, 2017 11 15.
Article
in English
| MEDLINE | ID: mdl-28973654
11.
MERTK mutation update in inherited retinal diseases.
Hum Mutat
; 39(7): 887-913, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29659094
12.
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.
J Med Genet
; 54(5): 346-356, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28031252
13.
Mutations in IMPG1 cause vitelliform macular dystrophies.
Am J Hum Genet
; 93(3): 571-8, 2013 Sep 05.
Article
in English
| MEDLINE | ID: mdl-23993198
14.
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 92(1): 67-75, 2013 Jan 10.
Article
in English
| MEDLINE | ID: mdl-23246293
15.
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
16.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Article
in English
| MEDLINE | ID: mdl-22325361
17.
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Am J Med Genet A
; 167A(10): 2366-74, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26061759
18.
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
19.
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Res Sq
; 2024 Feb 09.
Article
in English
| MEDLINE | ID: mdl-38405922
20.
LIGHTSITE II Randomized Multicenter Trial: Evaluation of Multiwavelength Photobiomodulation in Non-exudative Age-Related Macular Degeneration.
Ophthalmol Ther
; 12(2): 953-968, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36588113