Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
Bakhchane, Amina, Charif, Majida, Salime, Sara, Boulouiz, Redouane, Nahili, Halima, Roky, Rachida, Lenaers, Guy, Barakat, Abdelhamid
Published in PloS one (15.09.2015)
Published in PloS one (15.09.2015)
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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
Bakhchane, Amina, Charif, Majida, Bousfiha, Amale, Boulouiz, Redouane, Nahili, Halima, Rouba, Hassan, Charoute, Hicham, Lenaers, Guy, Barakat, Abdelhamid
Published in PloS one (04.05.2017)
Published in PloS one (04.05.2017)
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Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile
Kindil, Zineb, Senhaji, Mohamed Amine, Bakhchane, Amina, Charoute, Hicham, Chihab, Soumia, Nadifi, Sellama, Barakat, Abdelhamid
Published in BMC research notes (06.12.2017)
Published in BMC research notes (06.12.2017)
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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
Bousfiha, Amale, Bakhchane, Amina, Charoute, Hicham, Riahi, Zied, Snoussi, Khalid, Rouba, Hassan, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid
Published in Human genome variation (13.04.2017)
Published in Human genome variation (13.04.2017)
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Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
AitRaise, Imane, Amalou, Ghita, Bakhchane, Amina, Bousfiha, Amale, Abdelghaffar, Houria, Majida, Charif, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid
Published in Biochemical genetics (01.06.2024)
Published in Biochemical genetics (01.06.2024)
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A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family
Bakhchane, Amina, Charoute, Hicham, Nahili, Halima, Roky, Rachida, Rouba, Hassan, Charif, Majida, Lenaers, Guy, Barakat, Abdelhamid
Published in Gene (10.12.2015)
Published in Gene (10.12.2015)
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Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1
Benhsaien, Ibtihal, Essadssi, Soukaina, Elkhattabi, Lamiae, Bakhchane, Amina, Abdelghaffar, Houria, Bousfiha, Ahmed Aziz, Badou, Abdallah, Barakat, Abdelhamid
Published in Immunobiology (1979) (01.05.2021)
Published in Immunobiology (1979) (01.05.2021)
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Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families
Salime, Sara, Charif, Majida, Bousfiha, Amale, Elrharchi, Soukaina, Bakhchane, Amina, Charoute, Hicham, Kabine, Mostafa, Snoussi, Khalid, Lenaers, Guy, Barakat, Abdelhamid
Published in International journal of pediatric otorhinolaryngology (01.10.2017)
Published in International journal of pediatric otorhinolaryngology (01.10.2017)
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A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis
Essadssi, Soukaina, Benhsaien, Ibtihal, Bakhchane, Amina, Charoute, Hicham, Abdelghaffar, Houria, Bousfiha, Ahmed Aziz, Barakat, Abdelhamid
Published in Human heredity (01.11.2020)
Published in Human heredity (01.11.2020)
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Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
Bousfiha, Amale, Bakhchane, Amina, Charoute, Hicham, Detsouli, Mustapha, Rouba, Hassan, Charif, Majida, Lenaers, Guy, Barakat, Abdelhamid
Published in Molecular biology reports (01.10.2017)
Published in Molecular biology reports (01.10.2017)
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Journal Article
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
Bousfiha, Amale, Riahi, Zied, Elkhattabi, Lamiae, Bakhchane, Amina, Charoute, Hicham, Snoussi, Khalid, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid
Published in Human heredity (2019)
Published in Human heredity (2019)
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Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population
Charoute, Hicham, Bakhchane, Amina, Benrahma, Houda, Romdhane, Lilia, Gabi, Khalid, Rouba, Hassan, Fakiri, Malika, Abdelhak, Sonia, Lenaers, Guy, Barakat, Abdelhamid
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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Journal Article
Genetic investigation of XPA gene: high frequency of the c.682CT mutation in Moroccan XP patients with moderate clinical profile
Kindil, Zineb, Senhaji, Mohamed Amine, Bakhchane, Amina, Charoute, Hicham, Chihab, Soumia, Nadifi, Sellama, Barakat, Abdelhamid
Published in BMC research notes (06.12.2017)
Published in BMC research notes (06.12.2017)
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Journal Article
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss
Bakhchane, Amina, Bousfiha, Amale, Charoute, Hicham, Salime, Sara, Detsouli, Mustapha, Snoussi, Khalid, Nadifi, Sellama, Kabine, Mostafa, Rouba, Hassan, Dehbi, Hind, Roky, Rachida, Charif, Majida, Barakat, Abdelhamid
Published in European journal of medical genetics (01.06.2016)
Published in European journal of medical genetics (01.06.2016)
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Journal Article
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population: Mediterranean Founder Mutation Database
Charoute, Hicham, Bakhchane, Amina, Benrahma, Houda, Romdhane, Lilia, Gabi, Khalid, Rouba, Hassan, Fakiri, Malika, Abdelhak, Sonia, Lenaers, Guy, Barakat, Abdelhamid
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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Journal Article
Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients
El Khachibi, Meryam, Diakite, Brehima, Hamzi, Khalil, Badou, Abdallah, Senhaji, Mohamed Amine, Bakhchane, Amina, Jouhadi, Hassan, Barakat, Abdelhamid, Benider, Abdellatif, Nadifi, Sellama
Published in BMC cancer (25.02.2015)
Published in BMC cancer (25.02.2015)
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Journal Article
Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss
Charif, Majida, Bakhchane, Amina, Abidi, Omar, Boulouiz, Redouane, Eloualid, Abdelmajid, Roky, Rachida, Rouba, Hassan, Kandil, Mostafa, Lenaers, Guy, Barakat, Abdelhamid
Published in Gene (01.07.2013)
Published in Gene (01.07.2013)
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A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
Naasse, Yassine, Bakhchane, Amina, Charoute, Hicham, Jennane, Farida, Bignon-Topalovic, Joelle, Malki, Abderrahim, Bashamboo, Anu, Barakat, Abdelhamid, Rouba, Hassan, McElreavey, Ken
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
Karkar, Adnane, Barakat, Abdelhamid, Bakhchane, Amina, Fettah, Houda, Slassi, Ilham, Dorboz, Imen, Boespflug-Tanguy, Odile, Nadifi, Sellama
Published in BMC neurology (25.11.2015)
Published in BMC neurology (25.11.2015)
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Journal Article
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
Aadam, Zahra, Kechout, Nadia, Barakat, Abdelhamid, Chan, Koon-Wing, Ben-Ali, Meriem, Ben-Mustapha, Imen, Zidi, Fethi, Ailal, Fatima, Attal, Nabila, Doudou, Fatouma, Abbadi, Mohamed-Cherif, Kaddache, Chawki, Smati, Leila, Touri, Nabila, Chemli, Jalel, Gargah, Tahar, Brini, Ines, Bakhchane, Amina, Charoute, Hicham, Jeddane, Leila, El Atiqi, Sara, El Hafidi, Naïma, Hida, Mustapha, Saile, Rachid, Alj, Hanane Salih, Boukari, Rachida, Bejaoui, Mohamed, Najib, Jilali, Barbouche, Mohamed-Ridha, Lau, Yu-Lung, Mellouli, Fethi, Bousfiha, Ahmed Aziz
Published in Journal of clinical immunology (01.04.2016)
Published in Journal of clinical immunology (01.04.2016)
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