Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Clothilde Penet"'
Autor:
Marc-Henri de Laet, Annick Rotschild, Rémi Salomon, Clothilde Penet, Stanislas Lyonnet, Ratiba Hannachi, Raja Brauner, Fawzi Bakiri, B. Chaouachi, Jean-Louis Chaussain, Arnold Munnich, Anna Pelet, Smail Hadj-Rabia
Publikováno v:
European Journal of Human Genetics. 8:613-620
Triple A syndrome (Allgrove syndrome, MIM No. 231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, achalasia of the cardia, and alacrimia. The triple A gene has been previously mapped to chromosome 12q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd6bb25063d645e18a8588a450f2c68
https://doi.org/10.1038/sj.ejhg.5200508
https://doi.org/10.1038/sj.ejhg.5200508
Autor:
Martine Le Merrer, Valérie Cormier-Daire, Patricia Woo, Laurence Faivre, Isabelle Sermet, Arnold Munnich, Anne-Marie Prieur, Michael Hofer, François Hayem, Clothilde Penet, Nathalie Dagoneau
Publikováno v:
American journal of medical genetics. 95(3)
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfc73f98fa9c9bae35c188d65fd6ae7f
https://pubmed.ncbi.nlm.nih.gov/11102929
https://pubmed.ncbi.nlm.nih.gov/11102929
Autor:
Laurence Cattolico, Clothilde Penet, Danielle Naville, Jean-Louis Chaussain, Marc Nicolino, B. Chaouachi, Arnold Munnich, Jean Weissenbach, Smail Hadj-Rabia, Martine Begeot, Claude Mugnier, Fawzi Bakiri, Stanislas Lyonnet, Anna Tullio-Pelet, Marc-Henri de Laet, Philippe Brottier, Rémi Salomon
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2000, 26, pp.332-335
ResearcherID
Nature Genetics, Nature Publishing Group, 2000, 26, pp.332-335
ResearcherID
Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima1,2,3. Whereas sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40572e24202fb64d427962271b0bf38b
https://hal.inrae.fr/hal-02693003
https://hal.inrae.fr/hal-02693003
