Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Mariem Bensaid"'
Autor:
Claudia Carranza, Guney Bademci, Marianna Herrera, Majid Mojarrad, M'hamed Grati, Joseph Foster, Abhiraami Kannan-Sundhari, Yong Feng, Denise Yan, F. Basak Cengiz, Mariem Bensaid, Akeem O. Lasisi, Reza Maroofian, Saber Masmoudi, Alex M. Mawla, Mahdiyeh Behnam, Bing Zou, Duygu Duman, Rahul Mittal, Demet Tekin, Mohan Kameswaran, Waheed A. Adedeji, Xuezhong Liu, Rosemary I. Kabahuma, Alexander Nord, Mustafa Tekin, T.J. Lasisi, Andrew H. Crosby, Susan H. Blanton, Ibis Menéndez, Shengru Guo
Publikováno v:
Human genetics, vol 135, iss 8
Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40d9d35b96efcfd3f46fd9900fa5371b
https://doi.org/10.1007/s00439-016-1697-z
https://doi.org/10.1007/s00439-016-1697-z
Publikováno v:
International Journal of Biochemistry Research & Review. 14:1-12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f65a72ba1a0cfcfb3e5b305364ea6a20
https://doi.org/10.9734/ijbcrr/2016/29029
https://doi.org/10.9734/ijbcrr/2016/29029
Autor:
Xue Zhong Liu, Denise Yan, Oscar Diaz-Horta, Mariem Bensaid, Guney Bademci, Mustafa Tekin, M'hamed Grati, Qi Ma, Duygu Duman, Amjad Farooq, Saber Masmoudi, A. Chakroun, Imen Chakchouk, Joseph Foster, Rahul Mittal, Abdelmonem Ghorbel
Publikováno v:
Molecular Genetics and Genomics. 290:1327-1334
Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous. The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfa650d9017f8015f9cd8b08bab71aa1
https://doi.org/10.1007/s00438-015-0995-9
https://doi.org/10.1007/s00438-015-0995-9
Autor:
Saber Masmoudi, Mounira Hmani-Aifa, Mariem Bensaid, Hammadi Ayadi, B. Hammami, Abdelmonem Ghorbel, Abdelaziz Tlili, Bochra Hakim, Ignacio del Castillo, Ilhem Charfeddine
Publikováno v:
European Journal of Medical Genetics. 54:e565-e569
We previously mapped the DFNB66 locus to an interval overlapping the DFNB67 region. Mutations in the LHFPL5 gene were identified as a cause of DFNB67 hearing loss (HL). However, screening of the coding exons of LHFPL5 did not reveal any mutation in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4267bbaceef42ad79818f1e744a0f408
https://doi.org/10.1016/j.ejmg.2011.07.003
https://doi.org/10.1016/j.ejmg.2011.07.003
Autor:
Qi Ma, Imen Chakchouk, Alexandra A. DeSmidt, Rahul Mittal, Mariem Bensaid, Denise Yan, Aissette Baanannou, Amjad Farooq, Xue Zhong Liu, Susan H. Blanton, Zhongmin Lu, Saber Masmoudi, M'hamed Grati, Nouha Turki, Nabil Driss
Publikováno v:
Human molecular genetics. 24(9)
Hearing loss is the most common sensory deficit in humans. We show that a point mutation in DCDC2 (DCDC2a), a member of doublecortin domain-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family. Using imm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3040941d16c36638d1ce37cbeb898d7a
https://pubmed.ncbi.nlm.nih.gov/25601850
https://pubmed.ncbi.nlm.nih.gov/25601850
Autor:
Souissi, Amal, Ben Said, Mariem, Frikha, Fakher, Elloumi, Ines, Masmoudi, Saber, Megarbane, Andre
Publikováno v:
Genetic Testing & Molecular Biomarkers; Aug2021, Vol. 25 Issue 8, p528-539, 12p
Autor:
Chakchouk, Imen, Grati, M'hamed, Bademci, Guney, Bensaid, Mariem, Ma, Qi, Chakroun, Amine, Foster, Joseph, Yan, Denise, Duman, Duygu, Diaz-Horta, Oscar, Ghorbel, Abdelmonem, Mittal, Rahul, Farooq, Amjad, Tekin, Mustafa, Masmoudi, Saber, Liu, Xue
Publikováno v:
Molecular Genetics & Genomics; Aug2015, Vol. 290 Issue 4, p1327-1334, 8p