Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Yassamine, Doubaj"'
Autor:
Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas Lévy
Publikováno v:
Cells, Vol 11, Iss 4, p 610 (2022)
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point mutati
Externí odkaz:
https://doaj.org/article/5b13b46a4b71430faf1e116cd2bbaac3
Autor:
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan
Externí odkaz:
https://doaj.org/article/7a13207686c44ca9826f149c3399b289
Publikováno v:
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-4 (2017)
Abstract Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been ass
Externí odkaz:
https://doaj.org/article/212d9dc704324fb5841cb5f98bcef25a
Autor:
Lévy, Karim Harhouri, Pierre Cau, Frank Casey, Koffi Mawuse Guedenon, Yassamine Doubaj, Lionel Van Maldergem, Gerardo Mejia-Baltodano, Catherine Bartoli, Annachiara De Sandre-Giovannoli, Nicolas
Publikováno v:
Cells; Volume 11; Issue 4; Pages: 610
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point mutati
Autor:
Comlan F. Dossou, Mofou Belo, Palokinam Pitché, Yassamine Doubaj, Adama Dodji Gbadoé, Didier Koffi Gnamey, Yawo Dzayissè Atakouma, Weli Barry Moussa, Diparidè A. Agbèrè, Mazamaesso Tchaou, Koffi M. Guedenon, M Fiawoo, Machihude Pio, Djatougbe Ayaovi Elie Akolly, Kokou Vonor, Komlavi Adjenou, Bayaki Saka, Kokou Messan Amedome, Komlan Anani Mihluedo-Agbolan, Komla Gnassingbe
Publikováno v:
American Journal of Medical Genetics Part A. 182:1316-1320
The aim of this article is to describe the first case of Hutchinson-Gilford Progeria Syndrome (HGPS) in Togo and review all Africans cases. Our patient was a 12.8-year-old Togolese boy followed in our unit till he was 15-year-old for HGPS. He was the
Autor:
Nadia Elkassimi, Aziza Sbiti, Youssef El Kadiri, Siham Chafai Elalaoui, Abdelali Zrhidri, Yassamine Doubaj, Jaber Lyahyai, Maria El Kababri, Laila Hessissen, Abdelaziz Sefiani
Publikováno v:
Pan African Medical Journal; Vol. 39 No. 1 (2021)
The Pan African Medical Journal
The Pan African Medical Journal
Introduction:Fanconi anemia (FA) is a rare inherited hematological disease due to a defect in the DNA repair pathway resulting in congenital abnormalities and high susceptibility to develop cancers. The cytogenetic analysis using alkylating agents is
Autor:
De Sandre-Giovannoli A, Karim Harhouri, Nicolas Lévy, Mawuse Gk, Van Maldergem L, Pierre Cau, Casey F, Yassamine Doubaj, Mejia-Baltodano G
Progeroid Syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging that clinically resemble some aspects of advancing physiological aging. Most classical HGPS patients carry a de novo po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f21267cf649bdabeb4f9cf4ee6a92326
https://doi.org/10.1101/2021.04.14.439612
https://doi.org/10.1101/2021.04.14.439612
Autor:
Karim Harhouri, Claire Navarro, Camille Baquerre, Nathalie Da Silva, Catherine Bartoli, Frank Casey, Guedenon Koffi Mawuse, Yassamine Doubaj, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Publikováno v:
Cells, Vol 5, Iss 3, p 31 (2016)
Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point mutation within exon 11 of
Externí odkaz:
https://doaj.org/article/528d9dadacbd4b30b7e1ac3dea03165c
Autor:
Tania Attié-Bitach, Pierre-Simon Jouk, Frédéric Brioude, Judith Melki, Sophie Julia, Abdelaziz Sefiani, Sophie Naudion, Stephen Stamm, Jennifer Fabre-Teste, Christine Francannet, Sébastien Mur, Muriel Holder-Espinasse, Nicole Revencu, Tiffany Busa, Marine Legendre, Alain Kitzis, Stanislas Lyonnet, Jeanne Amiel, Frédéric Bilan, Patricia Blanchet, Yassamine Doubaj, Massimiliano Rossi, Brigitte Gilbert-Dussardier, Marie-Ange Delrue, Montserrat Rodríguez-Ballesteros, Véronique Abadie
Publikováno v:
European Journal of Human Genetics, Vol. 26, no. 2, p. 287-292 (2018)
CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene. Here we report an intriguing hot spot of intronic mutations (c.5405-7G > A, c.5405-13G > A, c.5405-17G > A and c.5405-18C > A) located in
Autor:
Yassamine Doubaj, Mustapha El Alloussi, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Jaber Lyahyai, Abdelkrim Boulanouar, Soukaina Guaoua, Abdelaziz Sefiani
Publikováno v:
European Journal of Medical Genetics. 60:239-244
Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have