Lista de obras - Olfa Messaoud - Dominio Público Uruguay

A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism

artículo científico publicado en 2014

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

artículo científico publicado en 2014

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

artículo científico publicado en 2021

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Comorbidity in the Tunisian population

artículo científico publicado en 2015

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

H syndrome: Clinical, histological and genetic investigation in Tunisian patients

artículo científico publicado en 2018

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

scientific article published on 05 February 2014

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

artículo científico publicado en 2017

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

artículo científico publicado en 2010

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa

artículo científico publicado en 2013

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

artículo científico publicado en 2013

Polymorphisms in the human cytochrome P450 and arylamine N-acetyltransferase: susceptibility to head and neck cancers

artículo científico publicado en 2013

Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.

artículo científico publicado en 2011

Specific aspects of consanguinity: some examples from the Tunisian population

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Lista de obras de Olfa Messaoud

A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism

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

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

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

Comorbidity in the Tunisian population

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

H syndrome: Clinical, histological and genetic investigation in Tunisian patients

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

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

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

Polymorphisms in the human cytochrome P450 and arylamine N-acetyltransferase: susceptibility to head and neck cancers

Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.

Specific aspects of consanguinity: some examples from the Tunisian population

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.