Detalhe da pesquisa
1.
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.
Hum Genomics
; 18(1): 59, 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38844983
2.
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
J Hum Genet
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467738
3.
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Hum Genomics
; 17(1): 42, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37189200
4.
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Metab Brain Dis
; 39(4): 611-623, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363494
5.
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Metab Brain Dis
; 38(8): 2665-2678, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37656370
6.
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Neurogenetics
; 23(4): 257-270, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819538
7.
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Hum Genet
; 141(3-4): 595-605, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338889
8.
Combinatorial targeting of microRNA-26b and microRNA-101 exerts a synergistic inhibition on cyclooxygenase-2 in brain metastatic triple-negative breast cancer cells.
Breast Cancer Res Treat
; 187(3): 695-713, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041621
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.
Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family.
Ann Hum Genet
; 83(6): 472-476, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192455
11.
Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.
Biochem Biophys Res Commun
; 484(1): 71-78, 2017 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28104394
12.
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
J Hum Genet
; 59(4): 216-22, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24573090
13.
The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.
Genes (Basel)
; 15(5)2024 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790217
14.
Highly efficient, label free, ultrafast plasmonic SERS biosensor (silver nanoarrays/Si) to detect GJB2 gene expressed deafness mutations in real time validated with PCR studies.
Int J Biol Macromol
; 259(Pt 2): 129381, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38218275
15.
Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene.
Gene
; 914: 148388, 2024 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499212
16.
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
Mol Biol Rep
; 40(1): 487-90, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054014
17.
Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss.
Saudi J Biol Sci
; 30(2): 103520, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36568409
18.
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
J Mol Neurosci
; 73(9-10): 853-864, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817054
19.
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Front Neurol
; 14: 1092887, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36970549
20.
miR-27a-3p regulates expression of intercellular junctions at the brain endothelium and controls the endothelial barrier permeability.
PLoS One
; 17(1): e0262152, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35025943