Detalhe da pesquisa
1.
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Cell
; 167(1): 187-202.e17, 2016 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27662089
2.
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Reprod Biol Endocrinol
; 21(1): 2, 2023 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36631813
3.
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.
Proc Natl Acad Sci U S A
; 114(10): E1933-E1940, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228528
4.
Association of the OPRM1 and COMT genes' polymorphisms with the efficacy of morphine in Tunisian cancer patients: Impact of the high genetic heterogeneity in Tunisia?
Therapie
; 71(5): 507-513, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27288213
5.
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Ann Neurol
; 75(4): 525-32, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24515897
6.
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
J Assist Reprod Genet
; 32(11): 1651-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26341096
7.
Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent ß-Thalassemia Mutations in the Tunisian Population.
Hemoglobin
; 39(4): 251-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26016902
8.
Assessment of MYCN amplification status in Tunisian neuroblastoma: CISH and MLPA combining approach.
Tunis Med
; 93(8-9): 527-31, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26815518
9.
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.
World J Clin Cases
; 12(3): 503-516, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38322471
10.
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
J Hum Genet
; 57(3): 170-5, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22089644
11.
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11ß hydroxylase deficiency in a Tunisian family.
Gen Comp Endocrinol
; 175(3): 514-8, 2012 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22210247
12.
Familial early-onset diabetes is not a typical MODY in several Tunisian patients.
Tunis Med
; 90(12): 882-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23247789
13.
Clinical, biological, radiological, and genetic study of LPAC syndrome in Tunisian patients.
Arab J Gastroenterol
; 23(3): 210-217, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35922258
14.
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.
PLoS One
; 17(12): e0278283, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454741
15.
Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.
Int J Gynecol Pathol
; 30(4): 348-53, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21623199
16.
Prostatic tissue in 46XX congenital adrenal hyperplasia: Case report and literature review.
Clin Case Rep
; 9(3): 1655-1662, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33768909
17.
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.
J Bone Miner Metab
; 28(1): 111-5, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19655082
18.
[Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. / Le syndrome de Li Fraumeni: à propos d'un cas familial avec cancers multiples et présentant une mutation germinale du gène p53.
Ann Biol Clin (Paris)
; 68(3): 346-50, 2010.
Artigo
em Francês
| MEDLINE | ID: mdl-20478780
19.
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Pan Afr Med J
; 36: 226, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33708317
20.
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.
Cancer Genet
; 240: 45-53, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31739127