Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Diego, Yeste"'
Autor:
Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionDefects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to thyroglobulin (TG) gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe perm
Externí odkaz:
https://doaj.org/article/488622cb30184b09bcb312808aad3740
Publikováno v:
Anales de Pediatría (English Edition), Vol 100, Iss 5, Pp e31-e33 (2024)
Externí odkaz:
https://doaj.org/article/307bdc0370a54155b1e28b3f446e4811
Autor:
Cristina Aguilar-Riera, María Clemente, Núria González-Llorens, Eduard Mogas, Ariadna Campos-Martorell, Anna Fàbregas, Betina Biagetti, Elida Vázquez, Diego Yeste
Publikováno v:
Clinical Diabetes and Endocrinology, Vol 9, Iss 1, Pp 1-7 (2023)
Abstract Background Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2–6% of all intracranial neoplasms. Delayed puberty, growth retardation, galactorrhea and weight gain are common features at presentation in ped
Externí odkaz:
https://doaj.org/article/272123603e1e43fe9421bb8604ccaf4c
Autor:
Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8473 (2024)
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defec
Externí odkaz:
https://doaj.org/article/5aad576b04f343ee948ea345c6334141
Autor:
Laura Sayol-Torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-Alvarez, Maria Clemente, Diego Yeste
Publikováno v:
JCRPE, Vol 15, Iss 2, Pp 205-209 (2023)
Prolyl endopeptidase-like (PREPL) deficiency (MIM#616224) is a rare congenital disorder characterised by neonatal hypotonia and feeding difficulties, growth hormone (GH) deficiency and hypergonadotropic hypogonadism. This syndrome is an autosomal rec
Externí odkaz:
https://doaj.org/article/7e18fdb07cae4a0da05561f2a4cec455
Autor:
Ariadna Campos-Martorell, Alicia Montaner Ramon, Karla Narváez Barros, José Luis Marin Soria, Rosa Maria López Galera, Diego Yeste Fernández, María Clemente León
Publikováno v:
JCRPE, Vol 14, Iss 4, Pp 453-462 (2022)
INTRODUCTION: Preterm and low birth weight (LBW) neonates may present with thyroid dysfunction during a critical period for neurodevelopment. These alterations can be missed on routine congenital hypothyroidism (CH) screening which only measures thyr
Externí odkaz:
https://doaj.org/article/b543e18b751a417e8b3d6eeda3a6ba72
Autor:
Betina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, Berta Campos, Sara Hernandez, Marina Giralt, Noelia Díaz-Troyano, Emilio Iniesta-Serrano, Diego Yeste, Rafael Simó
Publikováno v:
Diagnostics, Vol 13, Iss 13, p 2259 (2023)
Genetic tests have led to the discovery of many novel genetic variants related to growth failure, but the clinical significance of some results is not always easy to establish. The aim of this report is to describe both clinical phenotype and genetic
Externí odkaz:
https://doaj.org/article/8f63673b4573472290fc26efb38110ce
Autor:
Antonio Leiva Gea, María F. Martos Lirio, Ana Coral Barreda Bonis, Silvia Marín del Barrio, Karen E. Heath, Purificacion Marín Reina, Encarna Guillén Navarro, Fernando Santos Simarro, Isolina Riaño Galán, Diego Yeste Fernández, Isabel Leiva-Gea
Publikováno v:
Anales de Pediatría, Vol 97, Iss 6, Pp 423-423.e10 (2022)
Resumen: La acondroplasia requiere un seguimiento multidisciplinario, con el objetivo de prevenir y manejar las complicaciones, mejorar la calidad de vida y favorecer su independencia e inclusión social. Esta revisión se justifica por las múltiple
Externí odkaz:
https://doaj.org/article/e1c5ef52154b4fad8688d3cbad15254d
Autor:
José M. Siurana, Anna Sabaté-Rotés, Núria Amigó, Neus Martínez-Micaelo, Larry Arciniegas, Lucia Riaza, Eduard Mogas, Ferran Rosés-Noguer, Paula S. Ventura, Diego Yeste
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
IntroductionDyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective is to evaluate the advanced lipopr
Externí odkaz:
https://doaj.org/article/aa39fd9f25cd44379687f2b11851ad92
Autor:
Noelia Baz-Redón, Laura Soler-Colomer, Mónica Fernández-Cancio, Sara Benito-Sanz, Marta Garrido, Teresa Moliné, María Clemente, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog acyltransferase (HHAT) attaches the pal
Externí odkaz:
https://doaj.org/article/454ccb56ce014be6b7ec13e3e295643d