Detalhe da pesquisa
1.
Colorectal Cancer Archaeome: A Metagenomic Exploration, Tunisia.
Curr Issues Mol Biol
; 45(9): 7572-7581, 2023 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37754261
2.
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
3.
Involvement of C677T MTHFR variant but not A1298C in methotrexate-induced toxicity in acute lymphoblastic leukemia.
J Oncol Pharm Pract
; 27(6): 1382-1387, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865163
4.
Can leukocytospermia predict prostate cancer via its effects on mitochondrial DNA?
Andrologia
; 53(8): e14129, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34053114
5.
Detection of a novel mutation in a Tunisian child with polycystic kidney disease.
IUBMB Life
; 72(8): 1799-1806, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472977
6.
Renal angiomyolipoma: Clinico-pathologic study of 17 cases with emphasis on the epithelioid histology and p53 gene abnormalities.
Ann Diagn Pathol
; 47: 151538, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32574890
7.
Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.
J Assist Reprod Genet
; 36(1): 69-77, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30362053
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29481798
9.
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Biochem Biophys Res Commun
; 497(4): 1043-1048, 2018 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29481804
10.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29217198
11.
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Biochem Biophys Res Commun
; 499(3): 563-569, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29596833
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29421650
13.
Association of hyperhomocysteinemia with genetic variants in key enzymes of homocysteine metabolism and methotrexate toxicity in rheumatoid arthritis patients.
Inflamm Res
; 67(8): 703-710, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796841
14.
A duplex polymerase chain reaction-restriction fragment length polymorphism for rapid screening of methylenetetrahydrofolate reductase gene variants: Genotyping in acute leukemia.
J Clin Lab Anal
; 32(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374953
15.
Measurement of absolute copy number variation of Glutathione S-Transferase M1 gene by digital droplet PCR and association analysis in Tunisian Rheumatoid Arthritis population.
J Clin Lab Anal
; 32(3)2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28703442
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28104394
17.
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Biochem Cell Biol
; 94(3): 265-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27248780
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033601