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Structure: Internal structure identifier : 451119
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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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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

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

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

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

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