Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Marc, Nouchy"'
Autor:
Zine-Eddine Kherraf, Caroline Cazin, Amine Bouker, Selima Fourati Ben Mustapha, Sylviane Hennebicq, Amandine Septier, Charles Coutton, Laure Raymond, Marc Nouchy, Nicolas Thierry-Mieg, Raoudha Zouari, Christophe Arnoult, Pierre F. Ray
Publikováno v:
Am J Hum Genet
Non-obstructive azoospermia (NOA) is a severe and frequent cause of male infertility, often treated by testicular sperm extraction followed by intracytoplasmic sperm injection. The aim of this study is to improve the genetic diagnosis of NOA, by iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ceb077fc34b24eaf86f7ffd9cbab4b3
https://doi.org/10.1016/j.ajhg.2022.01.011
https://doi.org/10.1016/j.ajhg.2022.01.011
Autor:
Farid Haddoum, Damien Gruson, Nadia Gagi, Abderrezak Hedhili, Ylhame Kahina Souami, Fazia Djenane, Kamel Djenouhat, Leila Slim-Saidi, Djamel Yala, Houria Amari, François Blanchecotte, Nabil Raaf, Yahia Mekki, Christian Haddad, Dalila Arrache, Meriem Hasni, Isabelle Lacroix, Maya Nechar, Mohammed Ghaffour, Abdelhamid Chachou, Reda Djidjik, Samya Taghit-Mahi, Merzak Gharnaout, Ismail Achir, Imène Ferahta, Feriel Yasmine Baghdali, Marc Nouchy, Medhi Rabhia, Ahmed Djenane, Radia Kraiba, Yacine Kheloui, Lyece Yargui, Said Guettouche, Hayat Laras, Areski Bitam, Akli Lamani, Omar Chabati
Publikováno v:
Annales de Biologie Clinique. 77:701-711
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b380fa15430e8a601f291c469352c79
https://doi.org/10.1684/abc.2019.1505
https://doi.org/10.1684/abc.2019.1505
Autor:
Damien Sanlaville, Marie-France Portnoï, François Vialard, Azarnouche Ardalan, Alain Corré, Bernard Devauchelle, Valérie Malan, Tanguy Martin-Denavit, Marc Nouchy, François Thépot, Patrice Nizard, Luce Vue-Droy, Jean-Louis Taillemite
Publikováno v:
American Journal of Medical Genetics Part A. :325-330
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1bad6979eb3ec93c6afc944ee6c14b9
https://doi.org/10.1002/ajmg.a.30115
https://doi.org/10.1002/ajmg.a.30115
Autor:
Nouha Bouayed-Abdelmoula, François Vialard, Jamel Chelly, Julie Stephann, Myriam Mirc, Patrick Daoud, Ramzi Zemni, Marc Nouchy, Henry Castaing, Jean-Louis Taillemite, Azarnouche Ardalan, Marie-France Portnoï
Publikováno v:
Clinical Genetics. 58:116-122
We describe a female infant with severe abnormal phenotype with a de novo partial duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6a86809ad66554e078be196726e27ed
https://doi.org/10.1034/j.1399-0004.2000.580205.x
https://doi.org/10.1034/j.1399-0004.2000.580205.x
Autor:
Laure Lecerf, Marc Nouchy, Dominique Cornet, Narjes Guediche, Michel Goossens, Sophie Brisset, Gérard Tachdjian, Lucie Tosca
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2012, 55 (12), pp.737-42. ⟨10.1016/j.ejmg.2012.09.002⟩
European Journal of Medical Genetics, Elsevier, 2012, 55 (12), pp.737-42. ⟨10.1016/j.ejmg.2012.09.002⟩
International audience; In this report, we describe a case of multiple small supernumerary marker chromosomes (sSMC) presenting with recurrent abortions. Peripheral blood lymphocytes of a young, healthy and non-consanguineous couple who asked for gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac45ca5e17002518dffc6c633edacada
https://pubmed.ncbi.nlm.nih.gov/23017438
https://pubmed.ncbi.nlm.nih.gov/23017438
Autor:
Brigitte Benzacken, Anne-Claude Tabet, Alain Verloes, Evelyne Gauthier, Suonavy Khung-Savatovsky, Marc Nouchy, Romain Guilherme, Fabien Guimiot, Azzedine Aboura, Jean-François Oury, Anne-Lise Delezoide
Publikováno v:
American journal of medical genetics. Part A. (12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cea01e4242ec45e341c773f100a6d2
https://pubmed.ncbi.nlm.nih.gov/19938079
https://pubmed.ncbi.nlm.nih.gov/19938079
Autor:
Damien, Sanlaville, François, Vialard, François, Thépot, Luce, Vue-Droy, Azarnouche, Ardalan, Patrice, Nizard, Alain, Corré, Bernard, Devauchelle, Tanguy, Martin-Denavit, Marc, Nouchy, Valérie, Malan, Jean-Louis, Taillemite, Marie-France, Portnoï
Publikováno v:
American journal of medical genetics. Part A. (3)
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dea4ab834ee0ae6211ed7c3d7bc1f998
https://pubmed.ncbi.nlm.nih.gov/15216557
https://pubmed.ncbi.nlm.nih.gov/15216557
Autor:
Valérie Malan, François Vialard, Jacqueline Selva, Marie-France Portnoï, Marc Nouchy, Jean-Louis Taillemite
Publikováno v:
Fertility and Sterility. 86:1001.e1-1001.e5
Objective To analyze unusual translocations involving a chromosome 1 whole arm and an acrocentric G chromosome p arm found in two men with azoospermia. Design Case report with review of the scientific literature. Setting Cytogenetics department. Pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4062fe1c59242299133b36351df2a43
https://doi.org/10.1016/j.fertnstert.2006.01.061
https://doi.org/10.1016/j.fertnstert.2006.01.061