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X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
Zahra Aadam
,
Nadia Kechout
,
Abdelhamid Barakat
,
Koon-Wing Chan
,
Meriem Ben-Ali
,
et al.
Journal articles
pasteur-01374987v1
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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
Aymane Bouzidi
,
Hicham Charoute
,
Majida Charif
,
Ghita Amalou
,
Mostafa Kandil
,
et al.
Journal articles
hal-03861095v1
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Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder
Khaoula Rochdi
,
Mathieu Cerino
,
Nathalie da Silva
,
Valérie Delague
,
Aymane Bouzidi
,
et al.
Journal articles
hal-03678846v1
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Branched-Chain Amino Acid Database Integrated in MEDIPAD Software as a Tool for Nutritional Investigation of Mediterranean Populations
Sara Haydar
,
Thomas Paillot
,
Christophe Fagot
,
Yannick Cogne
,
Athanasios Fountas
,
et al.
Journal articles
pasteur-01989178v1
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A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family
Sara Salime
,
Zied Riahi
,
Soukaina Elrharchi
,
Lamiae Elkhattabi
,
Hicham Charoute
,
et al.
Journal articles
pasteur-03219641v1
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A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family
Ghita Amalou
,
Crystel Bonnet
,
Zied Riahi
,
Aymane Bouzidi
,
Soukaina Elrharchi
,
et al.
Journal articles
pasteur-03215242v1
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A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
Adnane Karkar
,
Abdelhamid Barakat
,
Amina Bakhchane
,
Houda Fettah
,
Ilham Slassi
,
et al.
Journal articles
inserm-01264481v1
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Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
Meriem Ben-Ali
,
Nadia Kechout
,
Najla Mekki
,
Jing Yang
,
Koon Wing Chan
,
et al.
Journal articles
pasteur-03561498v1
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A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
Yassine Naasse
,
Amina Bakhchane
,
Hicham Charoute
,
Farida Jennane
,
Joelle Bignon-Topalovic
,
et al.
Journal articles
pasteur-03521891v1
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First characterization of congenital myasthenic syndrome type 5 in North Africa
Rochdi Khaoula
,
Mathieu Cerino
,
Nathalie da Silva
,
Valérie Delague
,
Halima Nahili
,
et al.
Journal articles
hal-03662463v1
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Evidence for Association of the E23K Variant of KCNJ11 Gene with Type 2 Diabetes in Tunisian Population: Population-Based Study and Meta-Analysis.
Khaled Lasram
,
Nizar Ben Halim
,
Sana Hsouna
,
Rym Kefi
,
Imen Arfa
,
et al.
Journal articles
pasteur-01059829v1
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Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation
Sara Haydar
,
Florin Grigorescu
,
Mădălina Vintilă
,
Yannick Cogne
,
Corinne Lautier
,
et al.
Journal articles
hal-02080935v1
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Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family
Soukaina Elrharchi
,
Zied Riahi
,
Sara Salime
,
Hicham Charoute
,
Lamiae Elkhattabi
,
et al.
Journal articles
pasteur-03219602v1
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Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis.
Houda Benrahma
,
Hicham Charoute
,
Khaled Lasram
,
Redouane Boulouiz
,
Rym Kefi-Ben Atig
,
et al.
Journal articles
pasteur-01375062v1
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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis
Mariem Ben Rekaya
,
Chokri Naouali
,
Olfa Messaoud
,
Meriem Jones
,
Yosra Bouyacoub
,
et al.
Journal articles
hal-01876284v1
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Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Hassan Charoute
,
Amina Bakhchane
,
Houda Benrahma
,
Lilia Romdhane
,
Khalid Gabi
,
et al.
Journal articles
istex
pasteur-01375020v1
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Association study of HNF1A polymorphisms with metabolic syndrome in the Moroccan population.
Imane Morjane
,
Rym Kefi
,
Hicham Charoute
,
Fouzia Lakbakbi El Yaagoubi
,
Meryem Hechmi
,
et al.
Journal articles
hal-01571303v1
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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
Amale Bousfiha
,
Amina Bakhchane
,
Hicham Charoute
,
Zied Riahi
,
Khalid Snoussi
,
et al.
Journal articles
pasteur-03219646v1
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Maternal Effect and Familial Aggregation in a Type 2 Diabetic Moroccan Population.
Houda Benrahma
,
Imen Arfa
,
Majida Charif
,
Safaa Bounaceur
,
Abdelmajid Eloualid
,
et al.
Journal articles
istex
pasteur-00606695v1
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Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population.
Khaled Lasram
,
Nizar Ben Halim
,
Houda Benrahma
,
Sounnia Mediene-Benchekor
,
Imen Arfa
,
et al.
Journal articles
istex
pasteur-01060891v1
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Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
Amale Bousfiha
,
Zied Riahi
,
Lamiae Elkhattabi
,
Amina Bakhchane
,
Hicham Charoute
,
et al.
Journal articles
pasteur-03219615v1
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c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.
Mohamed Amine Senhaji
,
Omar Abidi
,
Sellama Nadifi
,
Hakima Benchikhi
,
Khadija Khadir
,
et al.
Journal articles
istex
pasteur-00796957v1
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A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
Simon von Ameln
,
Geng Wang
,
Redouane Boulouiz
,
Mark A Rutherford
,
Geoffrey M Smith
,
et al.
Journal articles
pasteur-00796959v1
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Study of the T16189C variant and mitochondrial lineages in Tunisian and overall Mediterranean region
Sana Hsouna
,
Nizar Ben Halim
,
Khaled Lasram
,
Ghlana Meiloud
,
Imen Arfa
,
et al.
Journal articles
hal-01356506v1
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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
Majida Charif
,
Naïg Gueguen
,
Marc Ferré
,
Zouhair Elkarhat
,
Salim Khiati
,
et al.
Journal articles
hal-03873017v1
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Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population
Hicham Charoute
,
Rym Kefi
,
Safaa Bounaceur
,
Houda Benrahma
,
Ahmed Reguig
,
et al.
Journal articles
pasteur-01966344v1
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Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case–control study in the Tunisian population and a meta-analysis
Hamza Dallali
,
Meriem Hechmi
,
Imane Morjane
,
Sahar Elouej
,
Haifa Jmel
,
et al.
Journal articles
pasteur-03561374v1
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A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
Al Mehdi Krami
,
Aymane Bouzidi
,
Majida Charif
,
Ghita Amalou
,
Hicham Charoute
,
et al.
Journal articles
hal-03861096v1
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Y-Chromosome Analysis in Egypt Suggests a Genetic Regional Continuity in Northeastern Africa
Franz Manni
,
Pascal Leonardi
,
Abdelhamid Barakat
,
Hassan Rouba
,
Evelyne Heyer
,
et al.
Journal articles
hal-03183353v1
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