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authFullName_s : Sonia Abdelhak

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

Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population

Sahar Elouej , Insaf Rejeb , Redha Attaoua , Majdi Nagara , Om Kalthoum Sallem , et al.
Endocrine Research, 2016, 41 (4), pp.300-309. ⟨10.3109/07435800.2016.1141945⟩
Journal articles hal-01356539v1

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients

Chiraz Bouchlaka , Chokri Maktouf , Bahri Mahjoub , Abdelkarim Ayadi , M. Tahar Sfar , et al.
Journal of Human Genetics, 2007, 52 (3), pp.262 - 270. ⟨10.1007/s10038-007-0110-0⟩
Journal articles pasteur-01375225v1

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

Majdi Nagara , Konstantinos Voskarides , Sahar Elouej , Apostolos Zaravinos , Zied Riahi , et al.
Journal of Genetics, 2014, 93 (3), pp.859-863. ⟨10.1007/s12041-014-0450-4⟩
Journal articles hal-01358526v1
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Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

Zied Landoulsi , Sawssan Benromdhan , Mouna Ben Djebara , Mariem Damak , Hamza Dallali , et al.
BMC Medical Genetics, 2017, 18 (1), pp.70. ⟨10.1186/s12881-017-0432-5⟩
Journal articles pasteur-01639043v1

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child

Rym Benmously-Mlika , Anissa Zaouak , Ridha Mrad , Nadia Laaroussi , Sonia Abdelhak , et al.
International Journal of Dermatology, 2014, 53 (12), pp.1478 - 1480. ⟨10.1111/ijd.12569⟩
Journal articles istex pasteur-01375053v1

Mucosal human papillomavirus detection and TP53 immunohistochemical expression in non‐melanoma skin cancer in Tunisian patients

Ines Ben Ayed , Haifa Tounsi , Amira Jaballah , Monia Ardhaoui , Afifa Maaloul , et al.
Journal of Cutaneous Pathology, 2019, 46 (8), pp.591 - 598. ⟨10.1111/cup.13473⟩
Journal articles pasteur-03540700v1

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

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart Syndrome.

Yosra Bouyacoub , Hela Zribi , Hatem Azzouz , Fehmi Nasrallah , Rim Ben Abdelaziz , et al.
Gene, 2013, 529 (1), pp.45-9. ⟨10.1016/j.gene.2013.07.066⟩
Journal articles pasteur-00861205v1
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Adult gaucher disease in southern Tunisia: report of three cases.

Faten Ben Rhouma , Faten Kallel , Rym Kefi , Wafa Cherif , Majdi Nagara , et al.
Diagnostic Pathology, 2012, 7, pp.4. ⟨10.1186/1746-1596-7-4⟩
Journal articles pasteur-00682183v1

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Farah Ouechtati , Ahlem Merdassi , Yosra Bouyacoub , Leila Largueche , Kaouther Derouiche , et al.
Journal of Human Genetics, 2011, 56 (1), pp.22-8. ⟨10.1038/jhg.2010.128⟩
Journal articles pasteur-00604858v1
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Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report

Hamza Dallali , Nadia Kheriji , Wafa Kammoun , Mehdi Mrad , Manel Soltani , et al.
Frontiers in Genetics, 2021, 12, pp.664963. ⟨10.3389/fgene.2021.664963⟩
Journal articles pasteur-03553851v1
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Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases

Sami Bouchoucha , Asma Chikhaoui , Dorra Najjar , Hamza Dallali , Maleke Khammessi , et al.
Frontiers in Pediatrics, 2020, 8, pp.172. ⟨10.3389/fped.2020.00172⟩
Journal articles pasteur-03561607v1
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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

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

Saida Lahbib , Mediha Trabelsi , Hamza Dallali , Rania Sakka , Rym Bourourou , et al.
Molecular Biology Reports, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩
Journal articles pasteur-03565723v1

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.

Sonia Nouira , Fatma Ouarda , Cherine Charfeddine , Imen Arfa , Houyem Ouragini , et al.
Heart & Lung, 2010, 39 (5), pp.432-6. ⟨10.1016/j.hrtlng.2009.10.012⟩
Journal articles istex pasteur-00612166v1
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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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Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease

Zied Landoulsi , Mouna Ben djebara , Imen Kacem , Youssef Sidhom , Rym Kefi , et al.
Medical Principles and Practice, 2018, 27 (4), pp.317-322. ⟨10.1159/000489779⟩
Journal articles pasteur-01990539v1
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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

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects

Sameh Khemir , Soumaya Halayem , Hatem Azzouz , Hajer Siala , Maherzia Ferchichi , et al.
Journal of Child Neurology, 2016, 31 (7), pp.843--849. ⟨10.1177/0883073815623636⟩
Journal articles pasteur-01469443v1

Screening of three Mediterranean phenylketonuria mutations in Tunisian families

Sameh Khemir , Hajer Siala , Sameh Hadj Taieb , Wafa Cherif , Hatem Azzouz , et al.
Journal of Genetics, 2012, 91 (1), pp.91-94
Journal articles hal-01358543v1

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

Imen Dorboz , Eléonore Eymard-Pierre , Rym Kefi , Sonia Abdelhak , Najoua Miladi , et al.
Journal of the Neurological Sciences, 2009, 287 (1-2), pp.278-280. ⟨10.1016/j.jns.2009.07.023⟩
Journal articles istex pasteur-01375329v1

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

A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.

Lamia Ben Abdallah , Youssef Lakhoua , Majdi Nagara , Karima Khiari , Sahar Elouej , et al.
Hormone Research in Paediatrics, 2014, 82 (5), pp.338-43. ⟨10.1159/000365888⟩
Journal articles pasteur-01375104v1

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

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

Wafa Cherif , Faten Ben Rhouma , Habib Messai , Amira Mili , Moez Gribaa , et al.
Annales de Biologie Clinique, 2012, 70 (6), pp.648-650. ⟨10.1684/abc.2012.0766⟩
Journal articles pasteur-01375145v1
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Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel-Vanagaite , Bruno Dallapiccola , Ramiro Ramirez-Solis , Alexandra Segref , Holger Thiele , et al.
American Journal of Human Genetics, 2012, 91 (6), pp.998-1010. ⟨10.1016/j.ajhg.2012.10.011⟩
Journal articles pasteur-01375146v1
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Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations

Yosra Ben Halima , Rym Kefi , Marco Sazzini , Cristina Giuliani , Sara de Fanti , et al.
Genes and Nutrition, 2017, 12, pp.20. ⟨10.1186/s12263-017-0573-3⟩
Journal articles pasteur-01636913v1
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Nehla Ghedira , Arnaud Lagarde , Karim Ben Ameur , Sahar Elouej , Rania Sakka , et al.
BMC Pediatrics, 2018, 18 (1), pp.286. ⟨10.1186/s12887-018-1259-8⟩
Journal articles pasteur-01882965v1

Heterozygous manifestations in female carriers of Mal de Meleda

M. Mokni , C. Charfeddine , R Ben Mously , D Baccouche , B. Kaabi , et al.
Clinical Genetics, 2004, 65 (3), pp.244-246. ⟨10.1111/j.0009-9163.2004.00224.x⟩
Journal articles istex pasteur-02051789v1