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1.
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Ann Hum Genet
; 88(3): 194-211, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38108658
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38467738
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38363494
4.
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
Metab Brain Dis
; 38(7): 2489-2497, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37642897
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35819538
7.
Pustular psoriasis of pregnancy: Clinical and genetic characteristics in a series of eight patients and review of the literature.
Dermatol Ther
; 35(8): e15593, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35598320
8.
Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation.
Mol Biol Rep
; 48(5): 4373-4382, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089464
9.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32319008
10.
Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene.
Ann Hum Genet
; 82(6): 457-468, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30079523
11.
First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy.
Biochem Biophys Res Commun
; 497(4): 1049-1054, 2018 03 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-29481798
12.
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Biochem Biophys Res Commun
; 497(4): 1043-1048, 2018 03 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-29481804
13.
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.
Biochem Biophys Res Commun
; 497(1): 93-101, 2018 02 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29421650
14.
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Biochem Biophys Res Commun
; 495(2): 1730-1737, 2018 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29217198
15.
Hypoparathyroidism in children: a study of eight cases.
Tunis Med
; 96(8-9): 472-476, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30430523
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28104394
17.
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
BMC Nephrol
; 18(1): 303, 2017 Oct 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28969594
18.
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.
Biochem Biophys Res Commun
; 473(1): 61-66, 2016 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-26993169
19.
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.
Biochem Biophys Res Commun
; 474(4): 702-708, 2016 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27155156
20.
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
Biochem Biophys Res Commun
; 473(2): 578-85, 2016 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-27033601