Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Dominique Recan"'
Autor:
Maria Dolores Jiménez, Noemi de Luna, Dominique Recan, Eduard Gallardo, Carmen Paradas, Isabel Illa, I Chinchón, C. Márquez
Publikováno v:
Muscle & Nerve. 32:61-65
We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09e6ae5d340718f6b212d08842c43e86
https://doi.org/10.1002/mus.20311
https://doi.org/10.1002/mus.20311
Autor:
Norma B. Romero, Serge Braun, Olivier Benveniste, France Leturcq, Jean-Yves Hogrel, Glenn E. Morris, Annie Barois, Bruno Eymard, Christine Payan, Véronique Ortega, Anne-Laure Boch, Lise Lejean, Christine Thioudellet, Brigitte Mourot, Christophe Escot, Aurore Choquel, Dominique Recan, Jean-Claude Kaplan, George Dickson, David Klatzmann, Valérie Molinier-Frenckel, Jean-Gérard Guillet, Patrick Squiban, Serge Herson, Michel Fardeau
Publikováno v:
Human Gene Therapy. 15:1065-1076
Nine patients with Duchenne or Becker muscular dystrophy were injected via the radialis muscle with a full-length human dystrophin plasmid, either once with 200 or 600 microg of DNA or twice, 2 weeks apart, with 600 microg of DNA. In the biopsies tak
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c6a1cbe6362f7fff7791a0469f9ed9
https://doi.org/10.1089/hum.2004.15.1065
https://doi.org/10.1089/hum.2004.15.1065
Autor:
Dominique Recan, Marie-France Portnoï, Nouha Bouayed Abdelmoula, Tahia Boudawara, Ali Bahloul, Tarek Rebai, Leila Keskes, Ali Saad
Publikováno v:
Annales de Génétique. 46:11-18
XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using fluorescence in situ hybridization (FISH) or PCR, it was possible to detect the transfer of Yp fragments including SRY
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcfaa697a11a9955e7beca0a09525dd9
https://doi.org/10.1016/s0003-3995(03)00011-x
https://doi.org/10.1016/s0003-3995(03)00011-x
Autor:
Emmanuelle Plassart, Jocelyne Reboul, Claire-Sophie Rime, Dominique Recan, Philippe Millasseau, Bruno Eymard, Jean Pelletier, Charles Thomas, Françoise Chapon, Claude Desnuelle, Christian Confavreux, Bernadette Bady, Jean-Jacques Martin, Gilbert Lenoir, Georges Serratrice, Michel Fardeau, Bertrand Fontaine
Publikováno v:
European journal of human genetics : EJHG. 2(2)
Hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and PC with myotonia permanens are closely related muscle disorders of genetic origin due to allelic mutations in the muscle sodium channel gene, SCN4A. Seven families of French o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6269d684ba92584260b1cde2a2e009d
https://pubmed.ncbi.nlm.nih.gov/8044656
https://pubmed.ncbi.nlm.nih.gov/8044656
Autor:
Veronique Bex, Xavier Bertagna, Philippe Bouchard, Dominique Recan, John C. Achermann, Antoine Tabarin, Masafumi Ito, Sophie Christin-Maitre, J. Larry Jameson
Publikováno v:
Scopus-Elsevier
Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). In affected boys, primary adrenal insufficiency occurs soon after birth or during early childhood; HHG is recognized at the expected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e3b74ea00640b4b96a68d3d5d6870e3
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033960595&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033960595&partnerID=MN8TOARS
