Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hanen Belguith"'
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 1, Pp 190-197 (2010)
In this study, we detected new sequence variations in LAMA2 and SGCG genes in 5 ethnic populations, and analysed their effect on enhancer composition and mRNA structure. PCR amplification and DNA sequencing were performed and followed by bioinformati
Externí odkaz:
https://doaj.org/article/1cafd46662c54790b170f4968070510e
Publikováno v:
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 33, Issue: 1, Pages: 190-197, Published: 29 JAN 2010
Genetics and Molecular Biology, Vol 33, Iss 1, Pp 190-197 (2010)
Genetics and Molecular Biology v.33 n.1 2010
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 33, Issue: 1, Pages: 190-197, Published: 29 JAN 2010
Genetics and Molecular Biology, Vol 33, Iss 1, Pp 190-197 (2010)
Genetics and Molecular Biology v.33 n.1 2010
Sociedade Brasileira de Genética (SBG)
instacron:SBG
In this study, we detected new sequence variations in LAMA2 and SGCG genes in 5 ethnic populations, and analysed their effect on enhancer composition and mRNA structure. PCR amplification and DNA sequencing were performed and followed by bioinformati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d8990f1eeb747db8b43ff1923d623d5
http://europepmc.org/articles/PMC3036081
http://europepmc.org/articles/PMC3036081
Autor:
Imen Ben Rebeh, Imed Lahmar, Hanen Belguith, Hammadi Ayadi, Houria Dhouib, Abdelmonem Ghorbel, Ilhem Charfeddine, Nabil Driss, Saber Masmoudi, Abedelaziz Tlili
Publikováno v:
Biochemical and Biophysical Research Communications. 385:1-5
Biallelic mutations in the GJB2, GJB3, GJB6 and CLDN14 genes have been implicated in autosomal recessive non-syndromic hearing impairment (ARNSHI). Moreover, a large number of GJB2 heterozygous patients was reported. The phenotype was in partly justi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfda73f6dfd283dd2be28bb2c694d7f5
https://doi.org/10.1016/j.bbrc.2009.02.125
https://doi.org/10.1016/j.bbrc.2009.02.125
Autor:
Hanen Belguith, Ilhem Charfeddine, Hammadi Ayadi, Saber Masmoudi, Abdelmonem Ghorbel, Houria Dhouib, Jihen Moalla, Mounira Aifa-Hmani, Imed Lahmar, Mariem Ben Said, Saida Ben Arab, Nabil Driss, Mohamed Ali Mosrati
Publikováno v:
Genetic Testing and Molecular Biomarkers. 13:147-151
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL) in humans (DFNB3) and in the shaker-2 mouse. Human MYO15A has 66 exons and encodes unconventional myosin XVA. Analysis of 77 Tunisian consanguineous families segregating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcc07f1fa04d5bcf2854383372da911
https://doi.org/10.1089/gtmb.2008.0077
https://doi.org/10.1089/gtmb.2008.0077
Autor:
Hammadi Ayadi, Myrna Medlej-Hashim, André Mégarbané, Dominique Weil, Christine Petit, Saber Masmoudi, Eliane Chouery, Hanen Belguith
Homozygosity mapping is a powerful resource for mapping and identifying loci and genes responsible for autosomal recessive disorders. Nevertheless, it could result in the identification of several homozygous regions unrelated to the disease locus or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2ee1b86036979a9521fe9974750518
https://europepmc.org/articles/PMC2985962/
https://europepmc.org/articles/PMC2985962/
Autor:
André Mégarbané, Eliane Chouery, Hala Mégarbané, Valérie Delague, Hanen Belguith, Elsa Nicolas, Salman Mroueh, Lynn Adaimy, Philippe de Mazancourt
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc125c7f18ae53685584bccce99d3bb0
https://europepmc.org/articles/PMC1973944/
https://europepmc.org/articles/PMC1973944/
Autor:
Nabiha Salem, H. Ayadi, Imed Lahmar, Ilhem Charfeddine, Malika Drira, S. Masmoudi, Ahmed Rebai, K. Ouldim, Hanen Belguith, S. Hajji, Abdelaziz Sefiani, Eliane Chouery, Mohamed Ben Amor, Nabil Driss, André Mégarbané
Publikováno v:
Clinical Genetics. 68:188-189
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45cb49bf7e73eb0059add2482aa04aea
https://doi.org/10.1111/j.1399-0004.2005.00474.x
https://doi.org/10.1111/j.1399-0004.2005.00474.x