Zobrazeno 1 - 10
of 307
pro vyhledávání: '"Campos Martorell A"'
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
Autor:
Diego Yeste, Noelia Baz-Redón, María Antolín, Elena Garcia-Arumí, Eduard Mogas, Ariadna Campos-Martorell, Núria González-Llorens, Cristina Aguilar-Riera, Laura Soler-Colomer, María Clemente, Mónica Fernández-Cancio, Núria Camats-Tarruella
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 18, p 10032 (2024)
Genetic defects in the TSH receptor (TSHR) can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild hyperthyrotro
Externí odkaz:
https://doaj.org/article/6db32d13fde146ef804b06517a220881
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:
Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya, Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd J.W., Cools, Martine, Ahmed, S. Faisal, Flück, Christa E.
Publikováno v:
In eBioMedicine January 2024 99
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Lilisbeth Perestelo-Pérez, Amado Rivero-Santana, Cristina Valcárcel-Nazco, Yolanda Álvarez-Pérez, Pedro Serrano-Aguilar, Yolanda Ramallo-Fariña, Lidia García-Pérez, Miguel Angel García-Bello, Himar Gonzalez-Pacheco, Ariadna Campos Martorell, Amparo González Vergaz, Ana María Prado Carro, Anunciación Beisti Ortego, Atilano José Carcavilla Urqui, Cristina Amparo Del Castillo Villaescusa, Estela Gil Poch, Francisco Javier Arroyo Diez, Gemma Novoa Gómez, Isabel González Casado, Juncal Martínez Ibáñez, Laura Cuadrado Piqueras, Leticia Reis Iglesias, Lucia Garzón Lorenzo, Luis Salamanca Fresno, María Asunción Martínez Brocca, María Aurea Rodríguez Blanco, María Del Mar Martínez López, María Jesús Ferreiro Rodríguez, María Ruiz del Campo, Nerea Itza Martín, Patricia García Navas, Rebeca García García
Publikováno v:
BMJ Open, Vol 13, Iss 12 (2023)
Objectives This study aimed to evaluate the effectiveness, safety and costs of FreeStyle Libre (FSL) glucose monitoring system for children and adolescents with type 1 diabetes mellitus (T1DM) in Spain.Design Prospective, multicentre pre-post study.S
Externí odkaz:
https://doaj.org/article/76b9ce12a0f6454ab98ea98b4703e0df
Akademický článek
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Autor:
Bravo Nieto Daniel, García Fernández Alba S., Diaz Troyano Noelia, Giralt Arnaiz Marina, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María
Publikováno v:
Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 199-202 (2023)
La hipoplasia suprarrenal congénita ligada al cromosoma X es una enfermedad rara con base genética conocida, que se presenta con insuficiencia suprarrenal e hipogonadismo hipogonadotrófico y expresión clínica variable.
Externí odkaz:
https://doaj.org/article/6a2bdaace9d84b4085940e41dd341934
Autor:
Bravo Nieto Daniel, García Fernández Alba S., Díaz Troyano Noelia, Arnaiz Marina Giralt, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María
Publikováno v:
Advances in Laboratory Medicine, Vol 4, Iss 2, Pp 195-198 (2023)
Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.
Externí odkaz:
https://doaj.org/article/9e0413265b3141d0a1d7f37f6abfa7df
Autor:
Yeste, Diego, Baz-Redón, Noelia, Antolín, María, Garcia-Arumí, Elena, Mogas, Eduard, Campos-Martorell, Ariadna, González-Llorens, Núria, Aguilar-Riera, Cristina, Soler-Colomer, Laura, Clemente, María, Fernández-Cancio, Mónica, Camats-Tarruella, Núria
Publikováno v:
International Journal of Molecular Sciences; Sep2024, Vol. 25 Issue 18, p10032, 14p