Publications by authors named "Sahli Chaima"

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Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.
Mariem Rebai, Yessine Amri, Chaima Sahli, Hajer Foddha, Taieb Messaoud

Mol Genet Metab Rep· June 2025

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Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.
Yessine Amri, Sondess Hadj Fredj, Rym Dabboubi, Rym Othmani, Chaima Sahli

Ann Hematol· June 2025

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Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients.
Taher Mahmoud, Chaima Sahli, Sondess Hadj Fredj, Yessine Amri, Rim Othmani

Mol Genet Genomic Med· October 2022

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Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Latifa Chkioua, Yessine Amri, Sahli Chaima, Ferdawes Fenni, Hela Boudabous

BMC Med Genomics· December 2021

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Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Latifa Chkioua, Yessine Amri, Sahli Chaima, Ferdawes Fenni, Hela Boudabous

BMC Med Genomics· August 2021

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Glucose-6-phosphate dehydrogenase deficiency in Tunisian jaundiced neonates.
Rym Dabboubi, Yessine Amri, Soumaya Hamdi, Hamida Jouini, Chaima Sahli

Ann Biol Clin (Paris)· August 2020

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Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population.
Sahli Chaima, Hadj Fredj Sondess, Boussetta Khedija, Mehrezi Ahmed, Messaoud Taieb

Ann Biol Clin (Paris)· June 2020

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A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.
Rym Dabboubi, Yessine Amri, Salem Yahyaoui, Rahma Mahjoub, Chayma Abdelhafidh Sahli, Chaima Sahli

Eur J Med Genet· May 2020

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Inherited bisalbuminemia with growth hormone deficiency.
Rym Dabboubi, Yessine Amri, Chaima Sahli, Sondess Hadj Fredj, Leila Essaddam

Clin Chem Lab Med· August 2019

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Determination of glucose-6-phosphate dehydrogenase cut-off values in a Tunisian population.
Naouel Laouini, Chaima Abdelhafidh Sahli, Latifa Jouini, Sabrine Haloui, Sondes Hadj Fredj

Clin Chem Lab Med· July 2017

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Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population.
Sabrine Haloui, Naouel Laouini, Chaima Abdelhafidh Sahli, Rim Daboubi, Mariem Becher

Ann Biol Clin (Paris)· January 2017

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Association of MP6d9 Polymorphism with Clinical Variability in Cystic Fibrosis Patients.
Chaima Sahli, Sondess Hadj-Fredj, Rym Dabboubi, Khedija Bousseta, Ahmed Mehrzi

Clin Lab· November 2016

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Setup of a Protocol of Molecular Diagnosis of β-Thalassemia Mutations in Tunisia using Denaturing High-Performance Liquid Chromatography (DHPLC).
Chaima Abdelhafidh Sahli, Ikbel Ben Salem, Latifa Jouini, Naouel Laouini, Rym Dabboubi

J Clin Lab Anal· September 2016

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Fortuitous description of haemoglobin A2' [δ16 (A13) Gly→Arg (GGC→CGC)] in a Tunisian family: study of the molecular defect and its origin.
Chaima Abdelhafidh Sahli, Sami Gritli, Rym Dabboubi, Souheil Omar, Hajer Siala

Ann Biol Clin (Paris)· May 2016

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First study of angiotensin converting enzyme in cystic fibrosis Tunisian patients.
Chaîma Sahli, Sondess Hadj Fredj, Hajer Siala, Amina Bibi, Taieb Messaoud

Clin Chem Lab Med· September 2014

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Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle-cell disease and sickle-cell thalassemia.
Chaima Abdelhafidh Sahli, Amina Bibi, Faida Ouali, Sondess Hadj Fredj, Boutheina Dakhlaoui

Clin Chem Lab Med· November 2013

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Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle cell disease and sickle cell thalassemia.
Chaima A Sahli, Amina Bibi, Faida Ouali, Sondess Hadj Fredj, Boutheina Dakhlaoui

Clin Chem Lab Med· August 2013

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New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic fibrosis patient.
Sondess Hadj Fredj, Monia Boudaya, Sabrine Oueslati, Safa Sahnoun, Chaima Sahli

J Genet· April 2013

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Detection of a novel splicing mutation causing analbuminemia in a Libyan family.
Amina Bibi, Latifa Jouini, Chaima Abdelhafidh Sahli, Sondess Hadj Fredj, Kamel Abidi

Clin Biochem· October 2012

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δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.
Chaima Abdelhafidh Sahli, Amina Bibi, Faida Ouali, Hajer Siala, Sondess Hadj Fredj

Clin Chem Lab Med· October 2012

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Fortuitous description of hemoglobin Hope in a high-level Tunisian athlete: molecular diagnosis and origin.
Amina Bibi, Imed Touhemi, Chaima Sahli, Hajer Siala, Zakia Bartagi

Ann Biol Clin (Paris)· August 2012

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