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authFullName_s : Sonia Abdelhak

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity

Nizar Ben Halim , Majdi Nagara , Béatrice Regnault , Sana Hsouna , Khaled Lasram , et al.
Annals of Human Genetics, 2015, 79 (6), pp.402 - 417. ⟨10.1111/ahg.12131⟩
Journal articles pasteur-01375019v1

Type 2 diabetes in Mauritania: Prevalence of the undiagnosed diabetes, influence of family history and maternal effect

Ghlana Meiloud , Imen Arfa , Rym Kefi , Isselmou Abdelhamid , Fatimetou Veten , et al.
Primary Care Diabetes, 2013, 7 (1), pp.19 - 24. ⟨10.1016/j.pcd.2012.12.002⟩
Journal articles pasteur-01375112v1
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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

Rahma Mkaouar , Lamia Cherif Ben Abdallah , Chokri Naouali , Saida Lahbib , Zinet Turki , et al.
Frontiers in Genetics, 2021, 12, pp.665174. ⟨10.3389/fgene.2021.665174⟩
Journal articles pasteur-03521812v1

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Majdi Nagara , Gregory Papagregoriou , Rim Ben Abdallah , Zied Landoulsi , Yosra Bouyacoub , et al.
European Journal of Medical Genetics, 2018, 61 (1), pp.1--7. ⟨10.1016/j.ejmg.2017.10.002⟩
Journal articles hal-01876288v1

Specific aspects of consanguinity: some examples from the tunisian population.

Lilia Romdhane , Nizar Ben Halim , Insaf Rejeb , Rym Kefi , Yosra Bouyacoub , et al.
Human Heredity, 2014, 77 (1-4), pp.167-74. ⟨10.1159/000362167⟩
Journal articles pasteur-01061190v1
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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

Cherine Charfeddine , Hamza Dallali , Ghaith Abdessalem , Kais Ghedira , Yosr Hamdi , et al.
Journal of Human Genetics, 2020, 65 (4), pp.397 - 410. ⟨10.1038/s10038-019-0711-4⟩
Journal articles pasteur-03261809v1
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Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings

Asma Chikhaoui , Ichraf Kraoua , Nadège Calmels , Sami Bouchoucha , Cathy Obringer , et al.
2022
Preprints, Working Papers, ... pasteur-03548783v1
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Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Zied Riahi , Crystel Bonnet , Rim Zainine , Saida Lahbib , Yosra Bouyacoub , et al.
PLoS ONE, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
Journal articles pasteur-01221041v1
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Zied Riahi , Crystel Bonnet , Rim Zainine , Malek Louha , Yosra Bouyacoub , et al.
PLoS ONE, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩
Journal articles pasteur-01060192v1
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Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing

Charles Auffray , Michael Sagner , Sonia Abdelhak , Ian Adcock , Alvar Agusti , et al.
PROGRESS IN PREVENTIVE MEDICINE, 2017, ⟨10.1097/pp9.0000000000000006⟩
Journal articles pasteur-04097586v1

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
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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Abir Ben Haj Ali , Ahlem Amouri , Marwa Sayeb , Saloua Makni , Wajih Hammami , et al.
Molecular Genetics & Genomic Medicine, 2019, 7 (7), pp.e00694. ⟨10.1002/mgg3.694⟩
Journal articles pasteur-03263632v1

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

Saida Lahbib , Claire S. Leblond , Mariem Hamza , Béatrice Regnault , Laure Lemee , et al.
Journal of Applied Genetics, 2018, ⟨10.1007/s13353-018-0472-3⟩
Journal articles pasteur-01948341v1
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar , Zied Riahi , Cherine Charfeddine , Imen Chelly , Hela Boudabbous , et al.
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
Journal articles pasteur-04072687v1

A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene

Marwa Sayeb , Zied Riahi , Nadia Laroussi , Crystel Bonnet , Lilia Romdhane , et al.
International Journal of Dermatology, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
Journal articles pasteur-03219630v1

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Cherine Charfeddine , Mourad Mokni , Selma Kassar , Hela Zribi , Chiraz Bouchlaka , et al.
Journal of Human Genetics, 2006, 51 (10), pp.841 - 845. ⟨10.1007/s10038-006-0002-8⟩
Journal articles pasteur-01375261v1