List of works - Sonia Abdelhak

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

scientific article

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

scientific article

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

scientific article

A novel 22bp deletion in a Tunisian phenylketonuria family.

scientific article published on 7 May 2012

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

scientific article

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families

scientific article

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

scientific article published on December 2014

Adult Gaucher disease in southern Tunisia: report of three cases

scientific article

Application of Multi-SOM clustering approach to macrophage gene expression analysis.

scientific article published on 17 October 2008

Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis.

scientific article

Association of genetic variants in the FTO gene with metabolic syndrome: A case-control study in the Tunisian population.

scientific article

Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome

scientific article

Association study of mitochondrial DNA polymorphisms with type 2 diabetes in Tunisian population

scientific article published on 9 October 2013

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects

scientific article published on 12 January 2016

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child

scientific article

Biotinidase deficiency: novel mutations in Algerian patients

scientific article published on 26 February 2013

CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia

scientific article

Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus

scientific article

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

article

Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department

scientific article published on 21 March 2014

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection

scientific article

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

scientific article

Clinical and genetic investigation of atrial septal defect with atrioventricular conduction defect in a large consanguineous Tunisian family

scientific article

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families

scientific article

Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.

scientific article

Clinical and mutational heterogeneity of Darier disease in Tunisian families

scientific article

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

scientific article

Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients

scientific article

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

scientific article published on 26 November 2015

Clinical, histological and genetic investigation of Buschke–Fischer–Brauer's disease in Tunisian families

scientific article published on 10 January 2009

Comorbidity in the Tunisian population

scientific article published on 22 May 2015

Complications rénales dans la glycogénose de type 1 : quelles implications pratiques ?

scientific article published on 06 May 2015

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome

scientific article published on 12 July 2013

Consanguinity, endogamy, and genetic disorders in Tunisia.

scientific article published on 4 December 2012

Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population.

scientific article published on 21 April 2014

Darier's disease: an evaluation of its neuropsychiatric component

scientific article published on 2 June 2008

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

scientific article

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

scientific article

Diagnostic biochimique et moléculaire de l’hyperoxalurie primaire de type 1 : étude tunisienne à propos de 15 cas

scientific article published on 05 November 2009

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

scientific article

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

scientific article published on 9 October 2017

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family

scientific article

Déficit homozygote en antithrombine de type HBS; à propos d'une famille

scientific article published on 29 November 2006

E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population.

scientific article published on 12 December 2013

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

scientific article

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss

scientific article published on 11 April 2016

Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian population: population-based study and meta-analysis

scientific article

Familial aggregation and excess maternal transmission of type 2 diabetes in Tunisia.

scientific article published on May 2007

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

scientific article published on 24 June 2003

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

scientific article

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

scientific article

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

scientific article

Gaucher disease in Tunisia: High frequency of the most common mutations

scientific article published on 23 June 2009

Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population

scientific article

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

scientific article

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia

scientific article

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations

scientific article published on 4 August 2014

Genetic diseases in the Tunisian population

scientific article published on 01 January 2011

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

scientific article

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

scientific article

Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.

scientific article

Hailey-Hailey disease in Tunisia

scientific article

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis

scientific article

Heterozygous manifestations in female carriers of Mal de Meleda.

scientific article published in March 2004

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

scientific article

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

scientific article

Histological characterization of Darier's disease in Tunisian families

scientific article published on 26 May 2009

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

scientific article published on 24 December 2015

Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie

scientific article

Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

article

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

scientific article

Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease

scientific article

Immunohistological study of involucrin expression in Darier's disease skin

scientific article

Lack of association between the angiotensin-converting enzyme gene (I/D) polymorphism and diabetic nephropathy in Tunisian type 2 diabetic patients

scientific article published on March 2008

Maladie de Darier associée à un pemphigus vulgaire

scientific article published on 01 January 2006

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

scientific article published in The Lancet

Maternal effect and familial aggregation in a type 2 diabetic Moroccan population.

scientific article

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population

scientific article

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

scientific article

Molecular diagnosis of Gaucher disease in Tunisia

scientific article

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations

scientific article

Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.

scientific article

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

scientific article published on 25 June 2013

Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

scientific article

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

scientific article

Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations

scientific article

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal

scientific article

Neila Chemkhi

Tunisian footballer

Neurologic manifestations of Behcet's disease: analysis of a series of 27 patients

scientific article published in July 2002

New mutations of Darier disease in Tunisian patients

scientific article published on 2 June 2009

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome

scientific article

Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population

scientific article published on 11 October 2016

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region

scientific article

Phylogeny and genetic structure of Tunisians and their position within Mediterranean populations.

scientific article published on 3 February 2014

Prevalence of Y chromosome microdeletions in infertile Tunisian men.

scientific article published on May 2014

Refined Linkage Map of Chromosome 5 in the Region of the Spinal Muscular Atrophy Gene

article

Retinal dystrophy and congenital glaucoma as major causes of vision loss in students attending two institutions for the visually disabled in Tunis city, Tunisia

scientific article

Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

scientific article published on January 2012

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

scientific article

Specific aspects of consanguinity: some examples from the Tunisian population

scientific article

Study of the T16189C variant and mitochondrial lineages in Tunisian and overall Mediterranean region.

scientific article published on 10 September 2014

Systems medicine and integrated care to combat chronic noncommunicable diseases

scientific article

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

scientific article published on 7 September 2013

The first Mal de Meleda case in Libya: identification of a SLURP1 mutation

scientific article

Trinucleotide repeat polymorphism at the D5S556 locus

scientific article published on 01 August 1993

Type 2 diabetes in Mauritania: prevalence of the undiagnosed diabetes, influence of family history and maternal effect

scientific article published on 4 February 2013

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss

scientific article

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients

scientific article

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

scientific article published in 2014

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

scientific article

List of works by Sonia Abdelhak

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 human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

A novel 22bp deletion in a Tunisian phenylketonuria family.

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

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

Adult Gaucher disease in southern Tunisia: report of three cases

Application of Multi-SOM clustering approach to macrophage gene expression analysis.

Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis.

Association of genetic variants in the FTO gene with metabolic syndrome: A case-control study in the Tunisian population.

Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome

Association study of mitochondrial DNA polymorphisms with type 2 diabetes in Tunisian population

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child

Biotinidase deficiency: novel mutations in Algerian patients

CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia

Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus

Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Clinical and genetic investigation of atrial septal defect with atrioventricular conduction defect in a large consanguineous Tunisian family

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families

Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.

Clinical and mutational heterogeneity of Darier disease in Tunisian families

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients

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

Clinical, histological and genetic investigation of Buschke–Fischer–Brauer's disease in Tunisian families

Comorbidity in the Tunisian population

Complications rénales dans la glycogénose de type 1 : quelles implications pratiques ?

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome

Consanguinity, endogamy, and genetic disorders in Tunisia.

Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population.

Darier's disease: an evaluation of its neuropsychiatric component

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

Diagnostic biochimique et moléculaire de l’hyperoxalurie primaire de type 1 : étude tunisienne à propos de 15 cas

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family

Déficit homozygote en antithrombine de type HBS; à propos d'une famille

E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population.

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss

Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian population: population-based study and meta-analysis

Familial aggregation and excess maternal transmission of type 2 diabetes in Tunisia.

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

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

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Gaucher disease in Tunisia: High frequency of the most common mutations

Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations

Genetic diseases in the Tunisian population

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

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

Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.

Hailey-Hailey disease in Tunisia

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis

Heterozygous manifestations in female carriers of Mal de Meleda.

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

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

Histological characterization of Darier's disease in Tunisian families

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie

Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

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

Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease

Immunohistological study of involucrin expression in Darier's disease skin

Lack of association between the angiotensin-converting enzyme gene (I/D) polymorphism and diabetic nephropathy in Tunisian type 2 diabetic patients

Maladie de Darier associée à un pemphigus vulgaire

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

Maternal effect and familial aggregation in a type 2 diabetic Moroccan population.

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.