Detalhe da pesquisa
1.
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs.
J Pediatr Hematol Oncol
; 42(6): e499-e502, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30870388
2.
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.
J Transl Med
; 16(1): 158, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29879995
3.
A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci.
BMC Cancer
; 18(1): 1295, 2018 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30594178
4.
Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.
Am J Hum Biol
; 28(2): 171-80, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179682
5.
Specific aspects of consanguinity: some examples from the Tunisian population.
Hum Hered
; 77(1-4): 167-74, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060280
6.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
; 15: 1384094, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711914
7.
First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.
Mol Genet Genomic Med
; 11(6): e2158, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36812379
8.
The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes.
Front Endocrinol (Lausanne)
; 14: 1293124, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192426
9.
When to Recommend a Peripheral Blood Smear to Patients with Congenital Ichthyosiform Erythroderma.
Skinmed
; 20(4): 305-306, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35976023
10.
A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.
NPJ Genom Med
; 6(1): 3, 2021 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420067
11.
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Front Genet
; 12: 665174, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34539727
12.
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.
Genes (Basel)
; 12(11)2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828426
13.
Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype.
Front Genet
; 12: 650639, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135938
14.
FANCA Gene Mutations in North African Fanconi Anemia Patients.
Front Genet
; 12: 610050, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33679882
15.
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
PLoS One
; 16(10): e0258202, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614013
16.
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
Front Oncol
; 11: 674965, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490083
17.
A broad survey of DNA sequence data simulation tools.
Brief Funct Genomics
; 19(1): 49-59, 2020 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31867604
18.
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.
Mol Genet Genomic Med
; 7(7): e00694, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124294
19.
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Int J Dermatol
; 58(12): 1439-1443, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31020658
20.
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.
Front Genet
; 10: 111, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838033