Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maiara Ribeiro Piovesan"'
Autor:
Ana Claudia Latronico, Ken McElreavey, Vinicius Brito Nahime, Ana Pinheiro Machado Canton, Brauner Raja, Flavia Rezende Tinano, Maiara Ribeiro Piovesan, Luciana Montenegro
Publikováno v:
Journal of the Endocrine Society. 6:A453-A454
Background Central precocious puberty (CPP) results from early reactivation of the hypothalamic-pituitary-gonadal (HPG) axis. Four monogenic causes of CPP have been described (KISS, KISS1R MKRN3 and DLK1). Rare loss-of-function mutations of DLK1, a m
Autor:
Berenice B. Mendonca, José I Labarta, Leandro Soriano-Guillén, Anna Flavia Figueiredo Benedetti, Lourdes Travieso-Suárez, Sonir Roberto Rauber Antonini, Ana Paula Abreu, Andrea de Castro Leal, Raquel Corripio, Priscila Gagliardi, Ana Claudia Latronico, Mirta Gryngarten, Maiara Ribeiro Piovesan, Luciana Ribeiro Montenegro, Andrea Arcari, Vinicius Nahime Brito, Jesús Argente, Ana Pinheiro Machado Canton, Nelmar Valentina Ortiz-Cabrera, Marina Cunha, Ursula B. Kaiser, Delanie B Macedo, Carolina Ramos, Arancha Escribano-Muñoz, Aline Guimaraes, Carlos Eduardo Seraphim
Publikováno v:
J Clin Endocrinol Metab
Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP). Objective To describe the clinical and hormonal features of a large cohort of patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2ac84958412f0da28ca2f0025f8938
https://europepmc.org/articles/PMC7993586/
https://europepmc.org/articles/PMC7993586/
Autor:
Flávia Rezende Tinano, Aline Guimarães de Faria, Ana Pinheiro Machado Canton, Carlos Eduardo Seraphim, Vinicius Nahime Brito, Maiara Ribeiro Piovesan, Carolina Ramos, Berenice B. Mendonca, Ana Claudia Latronico, Andrea de Castro Leal, Luciana Ribeiro Montenegro
Publikováno v:
Journal of the Endocrine Society
Context: The clinical recognition of familial central precocious puberty (CPP) has significantly increased in the last years. This fact can be related to the recent descriptions of genetic causes associated with this pediatric condition, such as loss
Autor:
Luciana Ribeiro Montenegro, Leandro Soriano-Guillén, Jesús Argente, Vinicius Nahime Brito, Vicente Barrios, Carlos Eduardo Seraphim, Maiara Ribeiro Piovesan, Ana Claudia Latronico, Raquel Corripio Collado, Ana Pinheiro Machado Canton, José I Labarta
Publikováno v:
Journal of the Endocrine Society
Background: Delta-like 1 homolog (DLK1), also known as pre-adipocyte factor 1 (Pref-1), is part of the Notch signaling pathway that controls many developmental processes. Loss-of-function mutations of DLK1 have been identified in children with centra
Autor:
Arancha Escribano-Muñoz, Berenice B. Mendonca, Ana Paula Abreu, Andrea de Castro Leal, Travieso-Suárez Lourdes, José I Labarta, Renata Frazão, Sonir Roberto Rauber Antonini, Jesús Argente, Neimar Valentina Ortiz-Cabrera, Ursula B. Kaiser, Ana Claudia Latronico, Leandro Soriano-Guillén, Vinicius Nahime Brito, Tabata Mariz Bohlen, Raquel Corripio Collado, Aline Guimarães de Faria, Carolina Ramos, Delanie B Macedo, Luciana Ribeiro Montenegro, Ana Pinheiro Machado Canton, Maiara Ribeiro Piovesan, Priscila Gagliardi, Margaret de Castro, Carlos Eduardo Seraphim
Publikováno v:
Journal of the Endocrine Society
Context: Loss-of-function mutations in the maternally imprinted Makorin RING-finger 3 (MKRN3) gene (15q11.2) are the most prevalent cause of familial central precocious puberty (CPP). Objectives: To analyze the phenotypes of a large cohort of childre
Autor:
Berenice B. Mendonca, Delanie B. Macedo, Ana Paula Abreu, Carolina Ramos, Ursula B. Kaiser, Aline Guimaraes, Luciana Ribeiro Montenegro, Priscila Gagliardi, Ana Claudia Latronico, Ana Pinheiro Machado Canton, Vinicius Nahime Brito, Maiara Ribeiro Piovesan, Marina Cunha-Silva, Carlos Eduardo Seraphim
Publikováno v:
Journal of the Endocrine Society
Context: Loss-of-function mutations in Makorin RING-finger 3 (MKRN3), a maternal imprinted gene located on the long arm of chromosome 15, are the most prevalent cause of familial central precocious puberty (CPP). Objectives: To describe the clinical