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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Journal of medical genetics, 2012-08, Vol.49 (8), p.502-512

2012

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Genetics and genomic medicine in Tunisia

Molecular genetics & genomic medicine, 2018-03, Vol.6 (2), p.134-159

2018

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Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

BMC ophthalmology, 2011-11, Vol.11 (1), p.35-35, Article 35

2011

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Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes

Investigative ophthalmology & visual science, 2011-07, Vol.52 (8), p.5317-5324

2011

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Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family

Clinical genetics, 2015-09, Vol.88 (3), p.283-287

2015

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Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma

Oncotarget, 2018-04, Vol.9 (28), p.20058-20074

2018

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Fetopathological examination for the fetuses with Down syndrome in Tunisia: Epidemiological study and associated malformations

Pathology, research and practice, 2017-09, Vol.213 (9), p.1200-1206

2017

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Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Journal of human genetics, 2014-04, Vol.59 (4), p.216-222

2014

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MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

Seminars in arthritis and rheumatism, 2007-06, Vol.36 (6), p.397-401

2007

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Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

Human genome variation, 2014-09, Vol.1 (1), p.14008-14008, Article 14008

2014

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Family history predictors of BRCA1/BRCA2 mutation status among Tunisian breast/ovarian cancer families

Breast cancer (Tokyo, Japan), 2017-03, Vol.24 (2), p.238-244

2017

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Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family

Tunisie Medicale, 2015-03, Vol.93 (3), p.170-174

2015

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Tolllike receptor 4 (TLR4) polymorphisms in Tunisian patients with Crohn's disease: genotype-phenotype correlation

BMC gastroenterology, 2009-08, Vol.9 (1), p.62-62, Article 62

2009

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Single Cell Genetic Analysis Helps Validating Cytopathological Identification of CTCs in Patients with Clear Cells Renal Carcinoma

Journal of the American Society of Cytopathology JASC, 2013-10, Vol.2 (1), p.S7-S7

2013

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Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome

Steroids, 2019-12, Vol.152, p.108489-108489, Article 108489

2019

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Non-syndromic Autosomal Recessive Mental Retardation in Tunisian families: Exclusion of GRIK2 and TUSC3 genes

Tunisie Medicale, 2011-05, Vol.89 (5), p.479-484

2011

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Analyse génétique de six familles Algériennes avec retard mental non spécifique autosomique récessif

Tunisie Medicale, 2011, Vol.89 (5), p.466-470

2011

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Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

The American journal of psychiatry, 2006-09, Vol.163 (9), p.1622-1629

2006

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Single Cell Genetic Analysis Helps Validating Cytopathological Identification of Ctcs in Patients with Ccrc

Annals of oncology, 2014-10, Vol.25, p.v46

2014

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Coexistence of Behçet’s Disease with Ankylosing Spondylitis and Familial Mediterranean Fever: A Rare Occurrence

Clinics and practice, 2011-05, Vol.1 (2), p.e34

2011

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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

European journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.851-856

2011

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GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness

International journal of pediatric otorhinolaryngology, 2013-05, Vol.77 (5), p.714-716

2013

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A Homozygous Splice Mutation in the HSF4 Gene Is Associated with an Autosomal Recessive Congenital Cataract

Investigative ophthalmology & visual science, 2004-08, Vol.45 (8), p.2716-2721

2004

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Human molecular genetics, 2002-04, Vol.11 (8), p.981-991

2002

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Genetics and genomic medicine in Tunisia

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family

Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma

Fetopathological examination for the fetuses with Down syndrome in Tunisia: Epidemiological study and associated malformations

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

Family history predictors of BRCA1/BRCA2 mutation status among Tunisian breast/ovarian cancer families

Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family

Tolllike receptor 4 (TLR4) polymorphisms in Tunisian patients with Crohn's disease: genotype-phenotype correlation

Single Cell Genetic Analysis Helps Validating Cytopathological Identification of CTCs in Patients with Clear Cells Renal Carcinoma

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome

Non-syndromic Autosomal Recessive Mental Retardation in Tunisian families: Exclusion of GRIK2 and TUSC3 genes

Analyse génétique de six familles Algériennes avec retard mental non spécifique autosomique récessif

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

Single Cell Genetic Analysis Helps Validating Cytopathological Identification of Ctcs in Patients with Ccrc

Coexistence of Behçet’s Disease with Ankylosing Spondylitis and Familial Mediterranean Fever: A Rare Occurrence

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness

A Homozygous Splice Mutation in the HSF4 Gene Is Associated with an Autosomal Recessive Congenital Cataract

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

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