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Akademický článek

Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation

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

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Akademický článek

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

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

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Akademický článek

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

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

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Akademický článek

Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients

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

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Identification of Novel BRCA1 Germline Deleterious Variant Among a Tunisian Family

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

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Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

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

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Novel

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

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