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authFullName_s : Abdelhamid Barakat

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 of Clinical Immunology, 2016, 36 (3), pp.187-194. ⟨10.1007/s10875-016-0251-z⟩
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.
Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.197. ⟨10.1186/s13023-022-02340-7⟩
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.
Clinica Chimica Acta, 2022, 524, pp.51-58. ⟨10.1016/j.cca.2021.11.020⟩
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.
Nutrients, 2018, 10 (10), pp.1392. ⟨10.3390/nu10101392⟩
Journal articles pasteur-01989178v1

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.
Gene, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩
Journal articles pasteur-03219641v1

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.
International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
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.
BMC Neurology, 2015, 15 (1), pp.244. ⟨10.1186/s12883-015-0503-1⟩
Journal articles inserm-01264481v1

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 of Clinical Immunology, 2019, 40 (1), pp.96 - 104. ⟨10.1007/s10875-019-00706-4⟩
Journal articles pasteur-03561498v1

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.
Sexual Development, 2017, 11 (5-6), pp.269-274. ⟨10.1159/000485393⟩
Journal articles pasteur-03521891v1

First characterization of congenital myasthenic syndrome type 5 in North Africa

Rochdi Khaoula , Mathieu Cerino , Nathalie da Silva , Valérie Delague , Halima Nahili , et al.
Molecular Biology Reports, 2021, 48 (10), pp.6999-7006. ⟨10.1007/s11033-021-06530-7⟩
Journal articles hal-03662463v1

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.
BioMed Research International , 2014, 2014, pp.265274. ⟨10.1155/2014/265274⟩
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.
PLoS ONE, 2019, 14 (3), pp.e0214122. ⟨10.1371/journal.pone.0214122⟩
Journal articles hal-02080935v1

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.
Human Heredity, 2021, 85 (1), pp.35-39. ⟨10.1159/000512712⟩
Journal articles pasteur-03219602v1

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.
Biochemical Genetics, 2014, 52 (9-10), pp.430-42. ⟨10.1007/s10528-014-9658-5⟩
Journal articles pasteur-01375062v1

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 of Dermatological Science, 2018, 89 (2), pp.172--180. ⟨10.1016/j.jdermsci.2017.10.015⟩
Journal articles hal-01876284v1

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.
Human Mutation, 2015, 36 (11), pp.E2441-53. ⟨10.1002/humu.22835⟩
Journal articles istex pasteur-01375020v1

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.
Diabetes & Metabolic Syndrome: Clinical Research & Reviews, 2017, 11 (supplement 2), pp.S853-S857. ⟨10.1016/j.dsx.2017.07.005⟩
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.
Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
Journal articles pasteur-03219646v1

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 of Community Health, 2011, epub ahead of print. ⟨10.1007/s10900-011-9393-3⟩
Journal articles istex pasteur-00606695v1

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.
J Diabetes, 2014, 7 (1), pp.102-13. ⟨10.1111/1753-0407.12147⟩
Journal articles istex pasteur-01060891v1

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.
Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Journal articles pasteur-03219615v1

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.
Archives of Dermatological Research, 2013, 305 (1), pp.53-7. ⟨10.1007/s00403-012-1299-0⟩
Journal articles istex pasteur-00796957v1

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.
American Journal of Human Genetics, 2012, 91 (5), pp.919-27. ⟨10.1016/j.ajhg.2012.09.002⟩
Journal articles pasteur-00796959v1

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.
Mitochondrial DNA, 2016, 27 (2), pp.1558--1563. ⟨10.3109/19401736.2014.953136⟩
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.
Brain Communications, 2021, 3 (2), ⟨10.1093/braincomms/fcab063⟩
Journal articles hal-03873017v1

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.
Mitochondrial DNA Part A, 2017, 29 (1), pp.9-13. ⟨10.1080/24701394.2016.1233530⟩
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.
Diabetology and Metabolic Syndrome, 2022, 14 (1), pp.25. ⟨10.1186/s13098-022-00794-0⟩
Journal articles pasteur-03561374v1

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.
European Journal of Medical Genetics, 2022, 65 (6), pp.104515. ⟨10.1016/j.ejmg.2022.104515⟩
Journal articles hal-03861096v1

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.
Human Biology, 2002, 74 (5), pp.645-658. ⟨10.1353/hub.2002.0054⟩
Journal articles hal-03183353v1