Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Ridha M'Rad"'
Autor:
Hela Sassi, Rym Meddeb, Mohamed Aziz Cherif, Chiraz Nasr, Aouatef Riahi, Samia Hannachi, Neila Belguith, Ridha M’rad
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Background Li–Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized by a broad tumor spectrum. To our best knowledge, only one Tunisian study wit
Externí odkaz:
https://doaj.org/article/b0d0d2ac94f64fffbf87379d9c7606cb
Autor:
Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud Zayoud, Benjamin Montagne, Ridha M’rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients di
Externí odkaz:
https://doaj.org/article/06396b4c7f4e41928d8dba776a10851f
Autor:
Lilia Kraoua, Hager Jaouadi, Mohamed Allouche, Ahlem Achour, Hakim Kaouther, Habib Ben Ahmed, Lilia Chaker, Faouzi Maazoul, Fatma Ouarda, Stéphane Zaffran, Ridha M'rad
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year. Methods Herein,
Externí odkaz:
https://doaj.org/article/a8ed9491d0fc400688d138cae0ad8928
Autor:
Najah Mighri, Yosr Hamdi, Maroua Boujemaa, Houcemeddine Othman, Sonia Ben Nasr, Houda El Benna, Nesrine Mejri, Soumaya Labidi, Jihen Ayari, Olfa Jaidene, Hanen Bouaziz, Mariem Ben Rekaya, Ridha M’rad, Abderrazek Haddaoui, Khaled Rahal, Hamouda Boussen, Samir Boubaker, Sonia Abdelhak
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundDeleterious mutations on BRCA1/2 genes are known to confer high risk of developing breast and ovarian cancers. The identification of these mutations not only helped in selecting high risk individuals that need appropriate prevention approac
Externí odkaz:
https://doaj.org/article/61eba045787f4423b8153172606745ad
Autor:
François M. Petit, Marylise Hébert, Vincent Gajdos, Liliane Capel, Ridha M’Rad, Philippe Labrune
Publikováno v:
Haematologica, Vol 93, Iss 10 (2008)
Externí odkaz:
https://doaj.org/article/290dd73941904173b52d738938887e1d
Autor:
Hela Sassi, Rym Meddeb, Mediha Trabelsi, Samia Hannachi, Neila Belguith, Imen Abbes, Khaled Rahal, Karima Mrad, Amel Mezlini, Ridha M’rad
Publikováno v:
Clinical Oncology and Research. :1-7
Inherited predisposition to breast and ovarian cancer are most frequently due to germline mutations in the main genes BRCA1 (OMIM# 113705) and BRCA2 (OMIM# 600185). These inactivating mutations, essentially frameshift and nonsense variation, occurs m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5de88108aaec0a6604afadcf064cca0
https://doi.org/10.31487/j.cor.2021.01.03
https://doi.org/10.31487/j.cor.2021.01.03
Autor:
Mariem El Younsi, Médiha Trabelsi, Sandra Ben Youssef, Inès Ouertani, Yousra Hammi, Ahlem Achour, Faouzi Maazoul, Maher Kharrat, Tahar Gargah, Ridha M’rad
Publikováno v:
Pediatric nephrology (Berlin, Germany). 38(1)
Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d34a3616e6a7cf30d7f7b70dc4ae424e
https://pubmed.ncbi.nlm.nih.gov/35445972
https://pubmed.ncbi.nlm.nih.gov/35445972
Autor:
Nesrine, Kerkeni, Maher, Kharrat, Faouzi, Maazoul, Hela, Boudabous, Ridha, M'rad, Mediha, Trabelsi
Publikováno v:
Journal of clinical neurology (Seoul, Korea). 18(2)
Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations inWe applied whole-exome s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ca97926fcbe5061a7966591e1c52248a
https://pubmed.ncbi.nlm.nih.gov/35196747
https://pubmed.ncbi.nlm.nih.gov/35196747
Autor:
Najah, Mighri, Yosr, Hamdi, Maroua, Boujemaa, Houcemeddine, Othman, Sonia, Ben Nasr, Houda, El Benna, Nesrine, Mejri, Soumaya, Labidi, Jihen, Ayari, Olfa, Jaidene, Hanen, Bouaziz, Mariem, Ben Rekaya, Ridha, M'rad, Abderrazek, Haddaoui, Khaled, Rahal, Hamouda, Boussen, Samir, Boubaker, Sonia, Abdelhak
Publikováno v:
Frontiers in Genetics
Background Deleterious mutations on BRCA1/2 genes are known to confer high risk of developing breast and ovarian cancers. The identification of these mutations not only helped in selecting high risk individuals that need appropriate prevention approa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::121bf49ba88035c524867a026b63c038
https://pubmed.ncbi.nlm.nih.gov/33240314
https://pubmed.ncbi.nlm.nih.gov/33240314
Publikováno v:
Journal of Clinical Neurology. 18:214
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d7e502e7a8607d87964fc505cce7adb
https://doi.org/10.3988/jcn.2022.18.2.214
https://doi.org/10.3988/jcn.2022.18.2.214