Detalhe da pesquisa
1.
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.
J Hum Genet
; 68(9): 635-642, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308566
2.
Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.
J Neurogenet
; 37(4): 124-130, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38109176
3.
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Ann Hum Genet
; 86(4): 181-194, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35118659
4.
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
Hum Genet
; 141(3-4): 583-593, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34268600
5.
Cupressus sempervirens Essential Oil: Exploring the Antibacterial Multitarget Mechanisms, Chemcomputational Toxicity Prediction, and Safety Assessment in Zebrafish Embryos.
Molecules
; 27(9)2022 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35565980
6.
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Am J Med Genet A
; 185(4): 1081-1090, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33403770
7.
Correction to: Gene duplication and functional divergence of the zebrafish otospiralin genes.
Dev Genes Evol
; 230(1): 37, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31989242
8.
Gene duplication and functional divergence of the zebrafish otospiralin genes.
Dev Genes Evol
; 230(1): 27-36, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31838648
9.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Hum Mol Genet
; 27(5): 780-798, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29293958
10.
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
11.
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.
BMC Med Genet
; 21(1): 122, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493243
12.
Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.
Mol Biol Rep
; 46(2): 2139-2145, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30730013
13.
Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.
Biomarkers
; 23(4): 347-356, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29325454
14.
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Hum Mol Genet
; 24(9): 2482-91, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25601850
15.
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
Hum Mutat
; 37(5): 481-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841241
16.
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Hum Genet
; 135(5): 513-524, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27023905
17.
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Hum Genet
; 135(8): 953-61, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27344577
18.
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
Mol Vis
; 22: 827-35, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27440999
19.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Mol Genet Genomics
; 290(4): 1327-34, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25633957
20.
Genetic diversity and haplotype structure of 21 Y-STRs, including nine noncore loci, in South Tunisian Population: Forensic relevance.
Electrophoresis
; 36(23): 2908-13, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331800