Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948090
2.
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
Hum Mutat
; 40(1): 31-35, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30341801
3.
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
Hum Mol Genet
; 26(18): 3573-3584, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911202
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24944099
5.
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.
Mol Vis
; 20: 1398-410, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352746
6.
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
Eur J Hum Genet
; 31(7): 834-840, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173411
7.
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.
Eur J Hum Genet
; 30(1): 34-41, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34857896
8.
Clinical Evaluation and Cone Alterations in Choroideremia.
Ophthalmology
; 123(8): 1830-1832, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26992839
9.
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Diagnostics (Basel)
; 11(9)2021 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573976
10.
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Hum Mutat
; 31(6): 734-41, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513143
11.
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
Hum Mutat
; 31(3): 347-55, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052763
12.
A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.
Front Genet
; 11: 623, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32714370
13.
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Hum Mutat
; 29(8): E76-87, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18484607
14.
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
Mol Vis
; 13: 102-7, 2007 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-17277737
15.
Assessment of the latest NGS enrichment capture methods in clinical context.
Sci Rep
; 6: 20948, 2016 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864517
16.
Molecular epidemiology of DFNB1 deafness in France.
BMC Med Genet
; 5: 5, 2004 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-15070423
17.
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.
BMC Genet
; 4: 1, 2003 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-12515581
18.
Experience of targeted Usher exome sequencing as a clinical test.
Mol Genet Genomic Med
; 2(1): 30-43, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24498627
19.
Four-year follow-up of diagnostic service in USH1 patients.
Invest Ophthalmol Vis Sci
; 52(7): 4063-71, 2011 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21436283
20.
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.
Eur J Med Genet
; 52(4): 174-9, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19375528