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1.
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
J Cell Mol Med
; 28(8): e18119, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38534090
2.
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Hum Mol Genet
; 30(5): 331-342, 2021 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33517449
3.
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Am J Med Genet A
; 173(5): 1257-1263, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28322503
4.
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
Biochem Biophys Res Commun
; 459(3): 353-60, 2015 Apr 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-25701779
5.
Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.
J Assist Reprod Genet
; 31(5): 595-600, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24550096
6.
A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men.
Mol Reprod Dev
; 80(7): 581-7, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23712756
7.
Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.
Mol Biol Rep
; 40(8): 4705-12, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23645088
8.
Bacillus amyloliquefaciens: Harnessing Its Potential for Industrial, Medical, and Agricultural Applications-A Comprehensive Review.
Microorganisms
; 11(9)2023 Aug 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-37764059
9.
Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.
Front Psychiatry
; 14: 1251884, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38025430
10.
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Res Sq
; 2023 Mar 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37034680
11.
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Sci Rep
; 13(1): 12984, 2023 08 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37563198
12.
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Front Mol Neurosci
; 15: 979061, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36277487
13.
A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
Biochem Biophys Res Commun
; 408(4): 654-7, 2011 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-21531204
14.
Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
Mol Cell Endocrinol
; 534: 111334, 2021 08 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-34062169
15.
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
J Mol Neurosci
; 70(3): 320-327, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31721002
16.
Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?
Environ Sci Pollut Res Int
; 25(6): 5779-5787, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29235020
17.
Novel cases of Tunisian patients with mutations in the gene encoding 17ß-hydroxysteroid dehydrogenase type 3 and a founder effect.
J Steroid Biochem Mol Biol
; 165(Pt A): 86-94, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26956191
18.
Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.
J Diabetes Complications
; 31(1): 253-259, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27422531
19.
Antagonist effects of Bacillus spp. strains against Fusarium graminearum for protection of durum wheat (Triticum turgidum L. subsp. durum).
Microbiol Res
; 192: 148-158, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27664733
20.
Evaluation of the effect of c.2946+1G>T mutation on splicing in the SCN1A gene.
Comput Biol Chem
; 54: 44-8, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25590135