Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marie Claude Routon"'
Autor:
Dominique Hillaire, Anne Leclerc, Sabine Fauré, Haluk Topaloglu, Nuchanard Chiannllkulchaï, Pascale Guicheney, Laurent Grinas, Patricia Legos, Joanne Philpot, Teresinha Evangelista, Marie-Claude Routon, Michèle Mayer, Jean-Francols Pellissier, Brigitte Estournet, Annie Barols, Fayçal Hentati, Nicole Feingold, Jacqui S.Beckmann, Victor Dubowitz, Fernando M.S.Tomé, Michel Fardeau
Publikováno v:
Human Molecular Genetics. 3:1657-1661
Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD (FCMD), associated with mental retardation and structural brain anomalies, and classical (occidental) CMD, with pure musc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6935c640edf734af865176c3c1c6fa
https://doi.org/10.1093/hmg/3.9.1657
https://doi.org/10.1093/hmg/3.9.1657
Autor:
Eva Pipiras, Brigitte Simon-Bouy, Jean Pierre Siffroi, Anne Roubergue, Lydie Burglen, Sandra Chantot-Bastaraud, Christine Muti, Marie Claude Routon
Publikováno v:
Annales de genetique. 47(3)
Two new patients, mosaic for a small supernumerary ring chromosome 7 are described. There are only seven published reported concerning supernumerary ring chromosome 7 and we reviewed the previously reported cases in an attempt to establish genotype-p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8279d25901798661d29dd2aede58ae28
https://pubmed.ncbi.nlm.nih.gov/15337469
https://pubmed.ncbi.nlm.nih.gov/15337469