Detalhe da pesquisa
1.
Deafness: from genetic architecture to gene therapy.
Nat Rev Genet
; 24(10): 665-686, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173518
2.
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies.
Proc Natl Acad Sci U S A
; 120(26): e2221744120, 2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339214
3.
Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
Mol Biol Rep
; 50(12): 10663-10669, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924449
4.
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Proc Natl Acad Sci U S A
; 117(49): 31278-31289, 2020 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33229591
5.
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
Biochem Genet
; 2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777971
6.
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.
Eur Arch Otorhinolaryngol
; 280(9): 4057-4063, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928321
7.
Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
BMC Cancer
; 22(1): 802, 2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35858847
8.
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
Mol Biol Rep
; 49(5): 3949-3954, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35301649
9.
Phylogenetic analysis of Harmonin homology domains.
BMC Bioinformatics
; 22(1): 190, 2021 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853521
10.
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Hum Hered
; 85(1): 35-39, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486474
11.
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Int J Mol Sci
; 22(19)2021 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638692
12.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Int J Mol Sci
; 22(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360642
13.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Am J Hum Genet
; 101(4): 630-637, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965846
14.
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Retina
; 40(8): 1603-1615, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479088
15.
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness.
Hum Hered
; 84(3): 109-116, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31801140
16.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Am J Hum Genet
; 98(6): 1266-1270, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259055
17.
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Mol Vis
; 25: 373-381, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367175
18.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Clin Genet
; 95(1): 177-181, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298622
19.
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
Doc Ophthalmol
; 139(2): 151-160, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267413
20.
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
Retina
; 37(8): 1581-1590, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27828912