Výsledky vyhledávání - "Tunisian families"

Akademický článek

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

Autor: Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi

Publikováno v: Diagnostic Pathology, Vol 17, Iss 1, Pp 1-11 (2022)

Abstract Background Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly as

Externí odkaz: https://doaj.org/article/719f2484eacd45bd80f7b8a19e31bbfd

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases

Autor: Yosr Hamdi, Maroua Boujemaa, Mariem Ben Rekaya, Cherif Ben Hamda, Najah Mighri, Houda El Benna, Nesrine Mejri, Soumaya Labidi, Nouha Daoud, Chokri Naouali, Olfa Messaoud, Mariem Chargui, Kais Ghedira, Mohamed Samir Boubaker, Ridha Mrad, Hamouda Boussen, Sonia Abdelhak, the PEC Consortium

Publikováno v: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-13 (2018)

Abstract Background A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics have been observed in br

Externí odkaz: https://doaj.org/article/4aaf76a9dd8f4e0988e7dafd8f4a7f72

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases

Autor: Cherif Ben Hamda, Mohamed Samir Boubaker, Sonia Abdelhak, Mariem Ben Rekaya, Maroua Boujemaa, Soumaya Labidi, Mariem Chargui, Houda El Benna, Hamouda Boussen, Kais Ghedira, Ridha Mrad, Olfa Messaoud, Najah Mighri, Yosr Hamdi, Chokri Naouali, Nesrine Mejri, Nouha Daoud

Publikováno v: Journal of Translational Medicine
Journal of Translational Medicine, BioMed Central, 2018, 16 (1), pp.158. ⟨10.1186/s12967-018-1504-9⟩
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-13 (2018)

Background A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics have been observed in breast canc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2952e42f637e80e0cb354ca1abdbd6be
https://hal.archives-ouvertes.fr/hal-01873768/document

Zobrazit plný text záznamu

Long-Term Follow-Up of Retinal Degenerations Associated WithLRATMutations and Their Comparability to Phenotypes Associated WithRPE65Mutations

Autor: Caroline Van Cauwenbergh, Nicoline E. Schalij-Delfos, Camiel J. F. Boon, Bart P. Leroy, Jacoline B. ten Brink, Elfride De Baere, Arthur A.B. Bergen, Mays Talib, Ralph J. Florijn, Roos J. G. van Duuren, Mary J. van Schooneveld

Publikováno v: Translational Vision Science & Technology, 8(4)
Translational Vision Science & Technology, 8(4). Association for Research in Vision and Ophthalmology Inc.
Translational Vision Science and Technology, 8(4):24. Association for Research in Vision and Ophthalmology Inc.
Translational Vision Science & Technology
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY

Purpose: To investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options. Methods: A retrospective cohort of 13 patients with LRAT-RDs. Results: Twelve patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757695b2f9001db4bc3c3c703fd71bf2
https://doi.org/10.1167/tvst.8.4.24

Zobrazit plný text záznamu

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

Autor: Kais Douzi, M. Jaouani, Miniar Kalai, Maria Leticia Ribeiro, SK Macedo, I. Boudriga, Imen Darragi, R. van Wijk, Alexandra Silva, Z. Fitouri, Salem Abbes, Leila Chaouch, Licínio Manco, Dorra Chaouachi

Publikováno v: International Journal of Laboratory Hematology
International Journal of Laboratory Hematology, Wiley, 2017, 39 (2), pp.223-231. ⟨10.1111/ijlh.12610⟩

International audience; INTRODUCTION:Pyruvate kinase (PK) deficiency is one of the most common hereditary nonspherocytic hemolytic anemias worldwide with clinical manifestations ranging from mild to severe hemolysis. However, investigation of this en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e02887226fae2daa68cd62d4261cb1b
https://pubmed.ncbi.nlm.nih.gov/28133914

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání