Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Anna Tullio-Pelet"'
Autor:
Shao-Ming Wu, Stanislas Lyonnet, Lawrence S. Kirschner, Anna Tullio-Pelet, Fabiano Sandrini, Dov Tiosano, Constantine A. Stratakis, Wai-Yee Chan, Constantine Farmakidis, Daniel Metzger, Carlos J. Bourdony
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 86:5433-5437
Familial glucocorticoid deficiency due to corticotropin (ACTH) resistance consists of two distinct genetic syndromes that are both inherited as autosomal recessive traits: isolated ACTH resistance (iACTHR), which may be caused by inactivating mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f87790442d23e493e4f089ff1a69a5f
https://doi.org/10.1210/jcem.86.11.8037
https://doi.org/10.1210/jcem.86.11.8037
Publikováno v:
Digestive Diseases and Sciences. 50:440-442
Achalasia is the best-described primary motor disorder of the esophagus. Its association with alacrima and adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency has been described in childhood. This triple-A syndrome is an autonomic rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e2d64cd5f877c11c21b5cd7a6057c7
https://doi.org/10.1007/s10620-005-2454-7
https://doi.org/10.1007/s10620-005-2454-7
Autor:
Emmanuelle Apartis, A Roubergue, Thierry Billette de Villemeur, Cyril Mignot, Stanislas Lyonnet, Marie Vidailhet, Anna Tullio-Pelet
Publikováno v:
Movement Disorders. 19:344-346
We report on the case of a 25-year-old woman with triple A syndrome and gene mutation, who, during the long follow-up period of 23 years, developed myoclonus of the face and the upper limbs (with normal brain magnetic resonance spectroscopy) and wide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9791b719fa3b6ec3c7837878fb906325
https://doi.org/10.1002/mds.10660
https://doi.org/10.1002/mds.10660
Autor:
Giovanni Barbara, Umberto Volta, Roberto Corinaldesi, R. De Giorgio, Anna Latiano, Stanislas Lyonnet, Vincenzo Stanghellini, Cesare Cremon, Vito Annese, G. Di Nardo, Beatrice Salvioli, Angelo Andriulli, Anna Tullio-Pelet
Publikováno v:
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 37(5)
Background.: Evidence indicates that patients with familial achalasia associated with Allgrove or triple-A syndrome (i.e. alacrima, achalasia and adrenocorticotropin-resistant adrenal insufficiency with neurological impairment) have mutations of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a5e590c464615be6dec98cebd10ac6
https://pubmed.ncbi.nlm.nih.gov/15843079
https://pubmed.ncbi.nlm.nih.gov/15843079
Triple-A syndrome (MIM 231550) is an autosomal recessive disorder characterised by adrenocorticotrophin hormone resistant adrenal insufficiency, achalasia of the oesophageal cardia, and alacrima.1 The gene, previously localised to chromosome 12q13,2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7e0d6fb2b9b13d246ec796b11772b8
https://europepmc.org/articles/PMC1735818/
https://europepmc.org/articles/PMC1735818/
Autor:
Anne, Roubergue, Emmanuelle, Apartis, Marie, Vidailhet, Cyril, Mignot, Anna, Tullio-Pelet, Stanislas, Lyonnet, Thierry Billette, de Villemeur
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 19(3)
We report on the case of a 25-year-old woman with triple A syndrome and gene mutation, who, during the long follow-up period of 23 years, developed myoclonus of the face and the upper limbs (with normal brain magnetic resonance spectroscopy) and wide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2801e973fb606d7c20c513471cfad5e5
https://pubmed.ncbi.nlm.nih.gov/15022193
https://pubmed.ncbi.nlm.nih.gov/15022193
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
Autor:
Mathieu Clément-Ziza, Jacques Gonzales, Anna Tullio-Pelet, Claude Besmond, Naziha Khen, Stanislas Lyonnet, Célia Crétolle-Vastel, Jean-Yves Picard, Claire Nihoul-Fékété, Arnold Munnich
Publikováno v:
American Journal of Medical Genetics Part A. :98-99
Unite´INSERM U-493, 32 rue des Carnets, 92140 Clamart, FranceTo the Editor:Rokitansky-Ku¨ster-Hauser (RKH) anomaly [Ludwig, 1998]comprises absence of vagina and rudimentary uterus in 46,XXindividuals with normal ovaries, normal secondary sexualchar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165326f8f9ffec62c67e0f6142561586
https://doi.org/10.1002/ajmg.a.30833
https://doi.org/10.1002/ajmg.a.30833
Autor:
Sabine Roman, Marc Nicolino, François Mion, Anna Tullio-Pelet, Denis PÉRÉ-VergÉ, Jean-Christophe Souquet
Publikováno v:
Digestive Diseases & Sciences; Mar2005, Vol. 50 Issue 3, p440-442, 3p