Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Arthur Sorlin"'
Autor:
M. Agopiantz, Bruno Leheup, Pierre Vabres, Arthur Sorlin, Guillaume Gauchotte, Catherine Diligent, Virginie Carmignac, Catherine Malaplate-Armand, Céline Bonnet
Publikováno v:
Journal of gynecology obstetrics and human reproduction. 50(9)
Background The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovari
Autor:
Christel Thauvin-Robinet, Véronique Darmency, Jean-Baptiste Rivière, Arthur Sorlin, Pierre Vabres, Marc Bardou, Frédéric Huet, Nawale Hadouiri, Alexis Arzimanoglou, Laurent Guibaud, Maxime Luu, Laurence Faivre, Virginie Carmignac
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or foca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4db522a15f95c413f148bb45a12ba2a
https://hal.science/hal-03491487
https://hal.science/hal-03491487
Autor:
Arthur Sorlin, Thomas Cuny, P. Journeau, Georges Weryha, M. Agopiantz, Beatrice Lebon-Labich, Bruno Leheup
Publikováno v:
Annales d'Endocrinologie
Annales d'Endocrinologie, Elsevier Masson, 2016, 77 (1), pp.7-13. ⟨10.1016/j.ando.2016.01.002⟩
Annales d'Endocrinologie, Elsevier Masson, 2016, 77 (1), pp.7-13. ⟨10.1016/j.ando.2016.01.002⟩
International audience; Background: McCune-Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life.Methods: A series of 14 pediatric cases were followed be