Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sylvie Compain-Nouaille"'
Autor:
Henriette A. Delemarre-van de Waal, Christine Petit, Marc Delpech, Philippe Bouchard, Françoise Baverel, Sylvie Compain-Nouaille, Marie-Laure Kottler, Christophe Pêcheux, Stefan Vermeulen, Nadia Soussi-Yanicostas, Dominique Le Tessier, Frank Speleman, Franco Sánchez-Franco, Roney S. Coimbra, Robert Saura, Sedigheh Delmaghani, Anne De Paepe, Yvan Bachelot, Jean-Claude Carel, Andrea Amalfitano, Catherine Dodé, Jean-Pierre Hardelin, Barbara Goulet-Salmon, Jacqueline Levilliers, Sylvie Cabrol, Jean-Michel Dupont, Jacques Young, Nathalie Le Dû, Corinne Cruaud, Odile Richard
Publikováno v:
Nature Genetics. 33:463-465
We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b8fe9bd675767bdbaeee8422a0c5acd
https://doi.org/10.1038/ng1122
https://doi.org/10.1038/ng1122
Autor:
Mark Lathrop, Christine Petit, Sedigheh Delmaghani, Dominique Weil, Afsaneh Ataie, Arnaud Lemainque, Asadollah Aghaie, Sirous Zeinali, Sylvie Compain-Nouaille
Publikováno v:
European journal of human genetics : EJHG. 11(10)
We report on a novel localization for a recessive form of deafness (DFNB), by linkage analysis in an Iranian consanguineous family. Affected individuals suffer from prelingual profound sensorineural hearing loss. Genome-wide analysis led to the chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f858d4b0a42407a0b6b529129c1262d7
https://pubmed.ncbi.nlm.nih.gov/14512974
https://pubmed.ncbi.nlm.nih.gov/14512974