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Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families

 Imane Aitraise , Ghita Amalou , Amina Bakhchane , Amale Bousfiha , Houria Abdelghaffar , et al.
Biochemical Genetics, In press, ⟨10.1007/s10528-023-10515-5⟩
Article dans une revue pasteur-04235312v1
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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⟩
Article dans une revue pasteur-03261809v1

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⟩
Article dans une revue pasteur-03215242v1

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⟩
Article dans une revue pasteur-03219641v1

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome

 Soukaina Elrharchi , Zied Riahi , Sara Salime , Halima Nahili , Hassan Rouba , et al.
International Journal of Pediatric Otorhinolaryngology, 2018, 113 (1), pp.46-50. ⟨10.1016/j.ijporl.2018.07.010⟩
Article dans une revue pasteur-04309116v1

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⟩
Article dans une revue pasteur-03219602v1
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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⟩
Article dans une revue pasteur-04072696v1

Novel pathogenic WHRN variant causing hearing loss in a moroccan family

 Imane Aitraise , Ghita Amalou , Salaheddine Redouane , Hicham Charoute , Khalid Snoussi , et al.
Molecular Biology Reports, 2023, ⟨10.1007/s11033-023-08901-8⟩
Article dans une revue hal-04281535v1
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Deciphering the Unexpected Binding Capacity of the Third PDZ Domain of Whirlin to Various Cochlear Hair Cell Partners

 Yanlei Zhu , Florent Delhommel , Florence Cordier , Susanne Lüchow , Ariel E Mechaly , et al.
Journal of Molecular Biology, 2020, 432 (22), pp.5920 - 5937. ⟨10.1016/j.jmb.2020.09.012⟩
Article dans une revue hal-02990253v1

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⟩
Article dans une revue pasteur-03985530v1
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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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue pasteur-03219615v1
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