Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Daniele Tessaris"'
Autor:
Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa de Sanctis, Gianni Bona, Simonetta Bellone, Flavia Prodam
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-4 (2017)
Abstract Background Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, pati
Externí odkaz:
https://doaj.org/article/a22ef0f817ec4cdf99517fdf66c8817f
Autor:
Marco Pitea, Giuseppe Scirè, Danilo Fintini, Malgorzata Wasniewska, M. Caruso-Nicoletti, Luisa de Sanctis, Daniele Tessaris, Giovanna Weber, Domenico Corica, Elisa Bonino
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Background Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH, and by peculiar clinical f
Autor:
Daniele Tessaris, Alessia Usardi, Guiomar Perez de Nanclares, Giovanna Mantovani, Virginie Grybek, Luisa De Sanctis, Susanne Thiele, Anya Rothenbuhler, Arrate Pereda, Peter Kamenicky, Léa C. Tran, Agnès Linglart, Marie Laure Kottler, Léa Linglart, Francesca Elli, Harald Jüppner, Bruno Francou, Ashley H. Shoemaker, Javier Errea, Patrick Hanna
Publikováno v:
Journal of Bone and Mineral Research. 33:1480-1488
Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and