List of works - Mariem Ben Rekaya

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy

scientific article

A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci

scientific article published on 29 December 2018

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

scientific article

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

scientific article published on 26 November 2015

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

scientific article

Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients.

scientific article

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

scientific article

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

scientific article

Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway

scientific article published on 12 December 2019

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients

scientific article

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis

scientific article

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

scientific article published on 14 February 2019

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

scientific article

Oral Communication Abstracts of the 18th Pan Arab Cancer Congress. TUNISIA. April 19-21, 2018

scientific article published on 01 April 2018

Specific aspects of consanguinity: some examples from the Tunisian population

scientific article

Summaries of the papers of the 4th National Congress of the Tunisian Society of Medical Oncology attached to the 4th Maghreb Congress of Oncology

scientific article published in October 2017

The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum

scientific article published on 7 September 2013

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

scientific article published on 2 November 2017

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.

scientific article

List of works by Mariem Ben Rekaya

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy

A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients.

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway

Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

Oral Communication Abstracts of the 18th Pan Arab Cancer Congress. TUNISIA. April 19-21, 2018

Specific aspects of consanguinity: some examples from the Tunisian population

Summaries of the papers of the 4th National Congress of the Tunisian Society of Medical Oncology attached to the 4th Maghreb Congress of Oncology

The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.