Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Daniele Tessaris"'
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
Autor:
Luisa De Sanctis, Patrizia Matarazzo, Daniele Tessaris, Massimiliano Bergallo, Ilaria Galliano, Paola Montanari
Publikováno v:
Hormone Research in Paediatrics. 87:342-349
Background/Aim: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the
Autor:
Maria Antonia Maffini, L. deSanctis, Arianna Pirelli, Agnès Linglart, Maura Arosio, Giovanna Mantovani, Francesca Elli, Paolo Bordogna, Daniele Tessaris
Publikováno v:
Clinical Epigenetics
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)
Background The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can occur alone or in association wi
Autor:
Francesca Verna, Francesco Porta, Alessandro Mussa, Silvia Einaudi, Daniele Tessaris, Paolo Mulatero, Roberta Camilla, Silvia Monticone
Publikováno v:
Endocrine Journal. 59:497-502
Familial hyperaldosteronism (FH) encompasses 3 types of autosomal dominant hyperaldosteronisms leading to inheritable hypertension. FH type II (FH-II), undistinguishable from sporadic hyperaldosteronism, represents the most frequent cause of inherita
Autor:
Daniele Tessaris, Patrizia Matarazzo, L. de Sanctis, Malgorzata Wasniewska, Andrea Corrias, Roberto Lala, M. F. Messina, Maria Cristina Vigone
Publikováno v:
Hormone Research in Paediatrics. 78:151-157
Background: To date, there is no agreement about the frequency or the features of thyroid abnormalities in McCune-Albright syndrome (MAS). The aim of our study was to detect thyroid abnormalities in a cohort of MAS children and adolescents and to giv
Autor:
Gerdi Tuli, Roberto Lala, Francesca Verna, Ludovica Fiore, Daniele Tessaris, Alessandro Mussa, Patrizia Matarazzo
Publikováno v:
Endocrine journal. 59(2)
McCune-Albright Syndrome (MAS) is a congenital endocrine disorder due to mosaic tissutal hyper-function. We describe a boy with a molecularly confirmed MAS, clinically evident with congenital café-au-lait spots, bone fibrous dysplasia, hyperthyroidi