Lista de obras -

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

artículo científico publicado en 2017

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

artículo científico publicado en 2020

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

artículo científico publicado en 2012

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

artículo científico publicado en 2017

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

artículo científico publicado en 2015

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

artículo científico publicado en 2008

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

artículo científico publicado en 2015

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.

artículo científico publicado en 2007

Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness

artículo científico publicado en 2008

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss

artículo científico publicado en 2013

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients.

artículo científico publicado en 2014

Association of c.56C > G (rs3135506) Apolipoprotein A5 Gene Polymorphism with Coronary Artery Disease in Moroccan Subjects: A Case-Control Study and an Updated Meta-Analysis

artículo científico publicado en 2020

Association of spermatogenic failure with the b2/b3 partial AZFc deletion

artículo científico publicado en 2012

Association of the C677T polymorphism in the human methylenetetrahydrofolate reductase (MTHFR) gene with the genetic predisposition for type 2 diabetes mellitus in a Moroccan population

artículo científico publicado en 2011

Association of the MTHFR A1298C variant with unexplained severe male infertility

artículo científico publicado en 2012

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population

artículo científico publicado en 2008

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome

artículo científico publicado el 1 de septiembre de 1997

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

artículo científico publicado en 2015

Clinicopathological features and molecular analysis of primary glioblastomas in Moroccan patients

artículo científico publicado en 2012

Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation

scientific article published on 03 November 2019

Computational Analysis of the Potential Impact of MTC Complex Missenses SNPs Associated with Male Infertility

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

First characterization of LHON pedigrees in North Africa

artículo científico publicado en 2020

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

artículo científico publicado en 2007

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

artículo científico publicado en 2013

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

scientific article published in 2022

Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome

artículo científico publicado en 2015

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

artículo científico publicado en 2006

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

artículo científico publicado en 2017

In Silico Analysis of Coding/Noncoding SNPs of Human RETN Gene and Characterization of Their Impact on Resistin Stability and Structure.

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Methylenetetrahydrofolate Reductase Gene Polymorphisms (C677T and A1298C) and Hemorrhagic Stroke in Moroccan Patients.

artículo científico publicado en 2018

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

artículo científico publicado en 2012

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

artículo científico publicado en 2011

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

artículo científico publicado en 2010

No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population

artículo científico publicado en 2008

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

artículo científico publicado en 2017

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

artículo científico publicado en 2017

Novel mutations involving the INSL3 gene associated with cryptorchidism

artículo científico publicado en 2007

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

artículo científico publicado en 2016

Phylogeography of E1b1b1b-M81 haplogroup and analysis of its subclades in Morocco

artículo científico publicado en 2014

Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity

artículo científico publicado en 2019

Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.

artículo científico publicado en 2014

Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss

artículo científico publicado en 2010

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

artículo científico publicado en 2015

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

artículo científico publicado en 2015

Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1

artículo científico publicado en 2022

TNF A -308G>A polymorphism in Moroccan patients with type 2 diabetes mellitus: a case-control study and meta-analysis

artículo científico publicado en 2014

The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population

artículo científico publicado en 2010

The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility

artículo científico publicado en 2013

The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population

artículo científico publicado en 2008

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

artículo científico publicado en 2012

Three new BLM gene mutations associated with Bloom syndrome

artículo científico publicado en 2008

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2016

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

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

artículo científico publicado en 2016

Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco

artículo científico publicado en 2004

Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa

artículo científico publicado en 2002

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

artículo científico publicado en 2012

Lista de obras de

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.

Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

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 APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients.

Association of c.56C > G (rs3135506) Apolipoprotein A5 Gene Polymorphism with Coronary Artery Disease in Moroccan Subjects: A Case-Control Study and an Updated Meta-Analysis

Association of spermatogenic failure with the b2/b3 partial AZFc deletion

Association of the C677T polymorphism in the human methylenetetrahydrofolate reductase (MTHFR) gene with the genetic predisposition for type 2 diabetes mellitus in a Moroccan population

Association of the MTHFR A1298C variant with unexplained severe male infertility

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

Clinicopathological features and molecular analysis of primary glioblastomas in Moroccan patients

Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation

Computational Analysis of the Potential Impact of MTC Complex Missenses SNPs Associated with Male Infertility

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

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

First characterization of LHON pedigrees in North Africa

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

In Silico Analysis of Coding/Noncoding SNPs of Human RETN Gene and Characterization of Their Impact on Resistin Stability and Structure.

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

Methylenetetrahydrofolate Reductase Gene Polymorphisms (C677T and A1298C) and Hemorrhagic Stroke in Moroccan Patients.

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

Novel mutations involving the INSL3 gene associated with cryptorchidism

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

Phylogeography of E1b1b1b-M81 haplogroup and analysis of its subclades in Morocco

Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity

Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.

Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients

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

Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1

TNF A -308G>A polymorphism in Moroccan patients with type 2 diabetes mellitus: a case-control study and meta-analysis

The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population

The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility

The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

Three new BLM gene mutations associated with Bloom syndrome

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

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

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco

Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa

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