Zobrazeno 1 - 10
of 35
pro vyhledávání: '"José I, Labarta"'
Autor:
José I. Labarta, Michael B. Ranke, Mohamad Maghnie, David Martin, Laura Guazzarotti, Roland Pfäffle, Ekaterina Koledova, Jan M. Wit
Publikováno v:
JCRPE, Vol 13, Iss 2, Pp 124-135 (2021)
Assessment and management of children with growth failure has improved greatly over recent years. However, there remains a strong potential for further improvements by using novel digital techniques. A panel of experts discussed developments in digit
Externí odkaz:
https://doaj.org/article/9c5c1f1770b94a1593623d4c487e676e
Akademický článek
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Publikováno v:
Frontiers in Endocrinology, Vol 8 (2018)
The “360° GH in Europe” meeting, which examined various aspects of GH diseases, was held in Lisbon, Portugal, in June 2016. The Merck KGaA (Germany) funded meeting comprised three sessions entitled “Short Stature Diagnosis and Referral,” “
Externí odkaz:
https://doaj.org/article/031b7c77ae274d3da698bb0e424a8708
Publikováno v:
Journal of Clinical Medicine
Volume 11
Issue 19
Pages: 5808
Volume 11
Issue 19
Pages: 5808
Introduction: Smoking during pregnancy is associated with reduced foetal growth, amongst other effects. Epigenetic modification in the foetus and placenta during embryonic development as a result of changes in the function of miRNAs is one of the pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f7028ea64cdbf1d185501d791c4cb1
Autor:
Raquel Corripio, José I Labarta, Lourdes Travieso-Suárez, Ana Pinheiro Machado Canton, Leandro Soriano-Guillén, Jesús Argente, Maira Piovesan, Vinicius Nahime Brito, Ana Claudia Latronico, Carlos Eduardo Seraphim, Vicente Barrios, Luciana Ribeiro Montenegro, Álvaro Martín-Rivada
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:3165-3172
Background Central precocious puberty (CPP) has been associated with loss-of-function mutations in 2 paternally expressed genes (MKRN3 and DLK1). Rare defects in the DLk1 were also associated with poor metabolic phenotype at adulthood. Objective Our
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3286cda854614a29034c45fec623de2f
https://doi.org/10.1210/clinem/dgaa461
https://doi.org/10.1210/clinem/dgaa461
Autor:
Michael B. Ranke, Jan M. Wit, José I Labarta, Ekaterina Koledova, David D. Martin, Roland Pfäffle, Laura Guazzarotti, Mohamad Maghnie
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology, 13(2), 124-135. GALENOS YAYINCILIK
Journal of Clinical Research in Pediatric Endocrinology
JCRPE, Vol 13, Iss 2, Pp 124-135 (2021)
Journal of Clinical Research in Pediatric Endocrinology
JCRPE, Vol 13, Iss 2, Pp 124-135 (2021)
Assessment and management of children with growth failure has improved greatly over recent years. However, there remains a strong potential for further improvements by using novel digital techniques. A panel of experts discussed developments in digit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc60357dc0694ad41a90b92a38ba742
https://hdl.handle.net/1887/3576000
https://hdl.handle.net/1887/3576000
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:
Atilano Carcavilla, Amparo Rodríguez Sánchez, Marta Ramon-Krauel, Larisa Suarez-Ortega, José I Labarta, Sofía Quinteiro González, Isolina Riaño Galán, Isabel González-Casado, Juan Pedro López-Siguero
Publikováno v:
Anales de Pediatría (English Edition), Vol 93, Iss 1, Pp 61.e1-61.e14 (2020)
Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features.NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly calle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c989d59ad3758e063984f19e01dbb93
http://www.sciencedirect.com/science/article/pii/S2341287920300909
http://www.sciencedirect.com/science/article/pii/S2341287920300909
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f453cc106c80e148df920acd4b83f26d
https://doi.org/10.1210/jendso/bvaa046.1471
https://doi.org/10.1210/jendso/bvaa046.1471
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a3ed56ace2e38bfe513b59dabcf337
https://doi.org/10.1210/jendso/bvaa046.1379
https://doi.org/10.1210/jendso/bvaa046.1379