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Ilhem Charfedine

Research Profile

Geographic Areas

Tunisia

Concepts & Ideas

Genes & Molecular Sequences

Recessive Genes

Disorders

Chemicals & Drugs

Physiology

Procedures

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Publications

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Ayda Khalfallah; Isabelle Schrauwen; Malek Mnaja; Erik Fransen; Imed Lahmar; Megan Ealy; Leila Dhouib; Hammadi Ayadi; Ilhem Charfedine; Nabil Driss; Ali Ghorbel; Richard J H Smith; Saber Masmoudi; Guy Van Camp
Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia.
Imen Ben Rebeh; Madeleine Morinière; Leila Ayadi; Zeineb Benzina; Ilhem Charfedine; Jamel Feki; Hammadi Ayadi; Abdelmonem Ghorbel; Faouzi Baklouti; Saber Masmoudi
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Zubair M Ahmed; Saber Masmoudi; Ersan Kalay; Inna A Belyantseva; Mohamed Ali Mosrati; Rob W J Collin; Saima Riazuddin; Mounira Hmani-Aifa; Hanka Venselaar; Mayya N Kawar; Abdelaziz Tlili; Bert van der Zwaag; Shahid Y Khan; Leila Ayadi; Sheikh Amer Riazuddin; Robert J Morell; Andrew J Griffith; Ilhem Charfedine; Refik Caylan; Jaap Oostrik; Ahmet Karaguzel; Abdelmonem Ghorbel; Sheikh Riazuddin; Thomas B Friedman; Hammadi Ayadi; Hannie Kremer
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

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All Publications

2010: Ayda Khalfallah; Isabelle Schrauwen; Malek Mnaja; Erik Fransen; Imed Lahmar; Megan Ealy; Leila Dhouib; Hammadi Ayadi; Ilhem Charfedine; Nabil Driss; Ali Ghorbel; Richard J H Smith; Saber Masmoudi; Guy Van Camp
Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia.
Annals of human genetics 2010;74(5):399-405.
2010: Imen Ben Rebeh; Madeleine Morinière; Leila Ayadi; Zeineb Benzina; Ilhem Charfedine; Jamel Feki; Hammadi Ayadi; Abdelmonem Ghorbel; Faouzi Baklouti; Saber Masmoudi
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Molecular vision 2010;16():1898-906.
2008: Zubair M Ahmed; Saber Masmoudi; Ersan Kalay; Inna A Belyantseva; Mohamed Ali Mosrati; Rob W J Collin; Saima Riazuddin; Mounira Hmani-Aifa; Hanka Venselaar; Mayya N Kawar; Abdelaziz Tlili; Bert van der Zwaag; Shahid Y Khan; Leila Ayadi; Sheikh Amer Riazuddin; Robert J Morell; Andrew J Griffith; Ilhem Charfedine; Refik Caylan; Jaap Oostrik; Ahmet Karaguzel; Abdelmonem Ghorbel; Sheikh Riazuddin; Thomas B Friedman; Hammadi Ayadi; Hannie Kremer
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Nature genetics 2008;40(11):1335-40.
2008: Imen Ben Rebeh; Zeineb Benzina; Houria Dhouib; Imen Hadjamor; Mustapha Amyere; Leila Ayadi; Khalil Turki; Bouthaina Hammami; Noureddine Kmiha; Hassen Kammoun; Bochra Hakim; Ilhem Charfedine; Miikka Vikkula; Abdelmonem Ghorbel; Hammadi Ayadi; Saber Masmoudi
Identification of candidate regions for a novel Usher syndrome type II locus.
Molecular vision 2008;14():1719-26.
2008: Abdelaziz Tlili; Imen Ben Rebeh; Mounira Aifa-Hmani; Houria Dhouib; Jihen Moalla; Jihen Tlili-Chouchène; Mariem Ben Said; Imed Lahmar; Zeineb Benzina; Ilhem Charfedine; Nabil Driss; Ali Ghorbel; Hammadi Ayadi; Saber Masmoudi
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.
Audiology & neuro-otology 2008;13(4):213-8.
2007: Abdelaziz Tlili; Saber Masmoudi; H Dhouib; S Bouaziz; I Ben Rebeh; J Chouchen; K Turki; Zeineb Benzina; Ilhem Charfedine; Mohamed Drira; Hammadi Ayadi
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
Annals of human genetics 2007;71(Pt 2):271-5.
2005: Abdelaziz Tlili; Ilhem Charfedine; Imed Lahmar; Zeineb Benzina; Ben Amor Mohamed; Dominique Weil; Nabil Idriss; Mohamed Drira; Saber Masmoudi; Hammadi Ayadi
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
Human mutation 2005;25(5):503.
2005: Abdelaziz Tlili; Minna Männikkö; Ilhem Charfedine; Imed Lahmar; Zeineb Benzina; Mohamed Ben Amor; Nabil Driss; Leena Ala-Kokko; Mohamed Drira; Saber Masmoudi; Hammadi Ayadi
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.
Human heredity 2005;60(3):123-8.
2004: Saber Masmoudi; Ilhem Charfedine; I B Rebeh; Ahmed Rebai; Abdelaziz Tlili; Ali Ghorbel; Hanen Belguith; Christine Petit; Mohamed Drira; Hammadi Ayadi
Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.
Clinical genetics 2004;66(4):358-64.
2000: Saber Masmoudi; Ilhem Charfedine; M Hmani; M'hamed Grati; Ali Ghorbel; A Elgaied-Boulila; Mohamed Drira; J P Hardelin; Hammadi Ayadi
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
American journal of medical genetics 2000;90(1):38-44.