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authIdHal_s : crystel-bonnet

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

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family

Sara Salime , Zied Riahi , Soukaina Elrharchi , Lamiae Elkhattabi , Hicham Charoute , et al.
Gene, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩
Journal articles pasteur-03219641v1

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

Ghita Amalou , Crystel Bonnet , Zied Riahi , Aymane Bouzidi , Soukaina Elrharchi , et al.
International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
Journal articles pasteur-03215242v1
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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

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family

Soukaina Elrharchi , Zied Riahi , Sara Salime , Hicham Charoute , Lamiae Elkhattabi , et al.
Human Heredity, 2021, 85 (1), pp.35-39. ⟨10.1159/000512712⟩
Journal articles pasteur-03219602v1

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

Zied Riahi , Houda Chahed , Habib Jaafoura , Rim Zainine , Olfa Messaoud , et al.
International Journal of Pediatric Otorhinolaryngology, 2013, 77 (9), pp.1485-8. ⟨10.1016/j.ijporl.2013.06.015⟩
Journal articles pasteur-00861211v1

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

Imane Aitraise , Ghita Amalou , Amale Bousfiha , Hicham Charoute , Hassan Rouba , et al.
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
Journal articles pasteur-03985530v1
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Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Sedigheh Delmaghani , Asadollah Aghaie , Yosra Bouyacoub , Hala El Hachmi , Crystel Bonnet , et al.
American Journal of Human Genetics, 2016, 98 (6), pp.1266 - 1270. ⟨10.1016/j.ajhg.2016.04.015⟩
Journal articles hal-01329650v1
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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Amale Bousfiha , Amina Bakhchane , Hicham Charoute , Zied Riahi , Khalid Snoussi , et al.
Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
Journal articles pasteur-03219646v1
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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 for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness

Amale Bousfiha , Zied Riahi , Lamiae Elkhattabi , Amina Bakhchane , Hicham Charoute , et al.
Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Journal articles pasteur-03219615v1

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

Zied Riahi , Rim Zainine , Yosra Mellouli , Raja Hannachi , Yosra Bouyacoub , et al.
International Journal of Pediatric Otorhinolaryngology, 2013, 77 (9), pp.1481-4. ⟨10.1016/j.ijporl.2013.06.013⟩
Journal articles pasteur-00860772v1
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Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Selma Mohamed Brahim , Ekht Elbenina Zein , Crystel Bonnet , Cheikh Tijani Hamed , Malak Salame , et al.
BMC Cancer, 2022, 22 (1), pp.802. ⟨10.1186/s12885-022-09903-8⟩
Journal articles pasteur-04072696v1