Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Catherine Dubois-d'Enghien"'
Autor:
Claudia Djambas Khayat, Stephany El-Hayek, Jack Koueik, Roula A Farah, Tony Yammine, Pratibha Nair, Dominique Stoppa-Lyonnet, Catherine Dubois-d’Enghien, André Mégarbané, Eliane Chouery, Agnès Collet, Maud Blanluet, Rima Korban, Hassan Khalifeh
Publikováno v:
Journal of pediatric hematology/oncology. 43(5)
Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and presents with cytopenias, characteristic physical features, increased chromosomal breaks, and a higher risk of malignancy. Genetic features of this disease vary among d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d9c671084942b9409c31bf666f716fb
https://pubmed.ncbi.nlm.nih.gov/32947577
https://pubmed.ncbi.nlm.nih.gov/32947577
Autor:
N. El Hafidi, Dominique Stoppa-Lyonnet, Catherine Dubois-d’Enghien, L. Jeddane, A. Kili, Abdelhamid Barakat, Ibtihal Benhsaien, Y. Kriouile, S. Chaouki, O. Abidi, Rachid Abilkassem, H. Fadil, H. Bellaoui, N. Rada, Aziz Bousfiha, Fatima Ailal
Publikováno v:
NeuroMolecular Medicine
NeuroMolecular Medicine, Humana Press, 2013, epub ahead of print. ⟨10.1007/s12017-013-8218-1⟩
NeuroMolecular Medicine, Humana Press, 2013, epub ahead of print. ⟨10.1007/s12017-013-8218-1⟩
International audience; Ataxia-telangiectasia (AT) is a rare autosomal recessive disease, affecting neurologic and immune system. Numerous mutations are described in the ATM gene in several populations. However, in Morocco, few data are available con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f24269cd8681a3681721e40bab627d
https://hal-riip.archives-ouvertes.fr/pasteur-00796956
https://hal-riip.archives-ouvertes.fr/pasteur-00796956
Autor:
M. Benfodda, Hui-Han Hu, Olga M. Sinilnikova, André Nicolas, Sophie Gad, Dominique Stoppa-Lyonnet, Nadem Soufir, Christine Maugard, Valérie Bonadona, Bénédicte Richaudeau, Nadine Andrieu, Odile Cabaret, Clotilde Penet, Jason Sellers, Olivier Caron, Laurence Desjardins, Xavier Renaudin, Marc-Henri Stern, Stéphane Richard, Paul Gesta, Gabor Gyapay, Olivier Delattre, Virginie Caux-Moncoutier, Elodie Manié, Tatiana Popova, Marie-Françoise Avril, Xavier Sastre-Garau, Lucie Hebert, Virginie Raynal, Catherine Dubois-d’Enghien, Virginie Jacquemin, Brigitte Bressac-de Paillerets, Emmanuel Barillot, Antoine De Pauw
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
American Journal of Human Genetics, 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
The genetic cause of some familial nonsyndromic renal cell carcinomas (RCC) defined by at least two affected first-degree relatives is unknown. By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b372f878205244b46d7949eaa4969554
https://hal.science/hal-02282699
https://hal.science/hal-02282699
Autor:
Maria Teresa Lourenço, Rui Gonçalves, Vincent Laugel, Bérénice Doray, Elbekkay Chadli, Catherine Dubois-d’Enghien, Silvia Sousa, Dominique Stoppa-Lyonnet, Anthony Laugé, Jérôme Couturier, Mounira Amor-Guéret, Meriem Benjelloun, Rosine Onclercq-Delic, Abdelhamid Barakat, Elisabeth Flori, Ahmed Aziz Bousfiha
Publikováno v:
Genetic testing. 12(2)
Bloom's syndrome (BS) is a rare autosomal recessive disease predisposing patients to all types of cancers affecting the general population. BS cells display a high level of genetic instability, including a 10-fold increase in the rate of sister chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab1cb53bd9b69971592cf4ab324cef0
https://pubmed.ncbi.nlm.nih.gov/18471088
https://pubmed.ncbi.nlm.nih.gov/18471088