Detalhe da pesquisa
1.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37815931
2.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32658972
3.
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
Inglês
| MEDLINE | ID: mdl-34948090
4.
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.
Hum Mutat
; 40(1): 31-35, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30341801
5.
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
Hum Mutat
; 37(2): 184-93, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26629787
6.
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
Inglês
| MEDLINE | ID: mdl-24944099
7.
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
Mol Vis
; 19: 367-73, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23441107
8.
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
Inglês
| MEDLINE | ID: mdl-37173411
9.
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Hum Mutat
; 33(1): 104-8, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22009552
10.
Non-USH2A mutations in USH2 patients.
Hum Mutat
; 33(3): 504-10, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22147658
11.
Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa.
Stem Cell Res
; 60: 102738, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35248879
12.
Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.
Diagnostics (Basel)
; 12(1)2022 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35054374
13.
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
Inglês
| MEDLINE | ID: mdl-34857896
14.
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Diagnostics (Basel)
; 11(9)2021 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34573976
15.
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Hum Mutat
; 31(6): 734-41, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20513143
16.
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
Hum Mutat
; 31(3): 347-55, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20052763
17.
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
Inglês
| MEDLINE | ID: mdl-32714370
18.
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.
Hum Mutat
; 30(9): 1329-39, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19606495
19.
A potential genomic biomarker for the detection of polycyclic aromatic hydrocarbon pollutants: multidrug resistance gene 49 in Drosophila melanogaster.
Environ Toxicol Chem
; 26(7): 1418-24, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17665681
20.
Drosophila melanogaster p-glycoprotein: a membrane detoxification system toward polycyclic aromatic hydrocarbon pollutants.
Environ Toxicol Chem
; 25(2): 572-80, 2006 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16519321