Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Ricardo Gracia Bouthelier"'
Autor:
José I, Labarta, Maria L, Moreno, Juan P, López-Siguero, Cristina, Luzuriaga, Itxaso, Rica, Jaime, Sánchez-del Pozo, Ricardo, Gracia-Bouthelier, M A, Fuentes
Publikováno v:
European Journal of Endocrinology. 167:523-529
ContextOestrogen induction of pubertal changes in Turner girls may reinforce their psychological well-being and may also optimise final height; however, oestrogen type, dose, and route are not well established.ObjectiveTo induce normal pubertal devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af19964f35b57811085d2ee169c1745f
https://doi.org/10.1530/eje-12-0444
https://doi.org/10.1530/eje-12-0444
Autor:
Esther Gean, Victor Martinez-Glez, Ricardo Gracia-Bouthelier, Encarna Guillén, Loreto Martorell, Julián Nevado, Sixto García-Miñaur, Mario F. Fraga, Victoria Esteban Marfil, Pablo Lapunzina, Luis Morís Fernández, Heloisa Meneses, Valeria Romanelli
Publikováno v:
European Journal of Human Genetics. 19:416-421
Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects. Other usual findings are hemihyperplasia, embryonal tumours, adr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fcbb6292fb57c53960c4474a6eafb9
https://doi.org/10.1038/ejhg.2010.236
https://doi.org/10.1038/ejhg.2010.236
Autor:
Mireya Orío Hernández, Marta Taida García Ascaso, Carolina Bezanilla López, Ricardo Gracia Bouthelier, J. Guerrero-Fernández
Publikováno v:
Endocrinología y Nutrición. 55:274-277
Los sindromes de osteolisis hereditaria se caracterizan por destruccion esqueletica debida a una incontrolada resorcion osea. Constituyen un grupo heterogeneo de entidades infrecuentes de clasificacion aun discutida, en la que se incluyen formas mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a9999858fbca7e0381d86ea7420ea65
https://doi.org/10.1016/s1575-0922(08)70684-3
https://doi.org/10.1016/s1575-0922(08)70684-3
Autor:
Fernando Benito Bartolomé, M.a Jesús del Cerro Marín, Ricardo Gracia Bouthelier, Margarita Burgueros, Moreno F, Aurora Fernández Ruiz, Luis García-Guereta, M. Dolores Rubio Vidal, Susana Ares Segura
Publikováno v:
Revista Española de Cardiología. 53:517-524
Introduccion y objetivos Los contrastes iodados pueden bloquear la sintesis de hormonas tiroideas. Nuestros objetivos fueron estudiar la incidencia de alteraciones tiroideas poscateterismo en ninos con cardiopatia congenita, y analizar los factores p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cce34c6f56730920f3442eba9ddc2b95
https://doi.org/10.1016/s0300-8932(00)75122-0
https://doi.org/10.1016/s0300-8932(00)75122-0
Autor:
Javier Señorans, Francisco J. Rupérez, J. Guerrero-Fernández, Claudia Balderas, Antonia García, Ricardo Gracia-Bouthelier, Coral Barbas, Elena Ibáñez, Isabel Gonzalez Casado
Publikováno v:
ELECTROPHORESIS.
Type 1 diabetes mellitus is one of the most common chronic disorders of childhood. The metabolic control is lost due to the lack of insulin, which is the main treatment for the disease. Nevertheless, long-term complications appear even under good gly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::546c5a17d43b0a2b1c2062c228efa453
https://doi.org/10.1002/elps.201300062
https://doi.org/10.1002/elps.201300062
Autor:
Claudia, Balderas, Francisco Javier, Rupérez, Elena, Ibañez, Javier, Señorans, Julio, Guerrero-Fernández, Isabel González, Casado, Ricardo, Gracia-Bouthelier, Antonia, García, Coral, Barbas
Publikováno v:
Electrophoresis. 34(19)
Type 1 diabetes mellitus is one of the most common chronic disorders of childhood. The metabolic control is lost due to the lack of insulin, which is the main treatment for the disease. Nevertheless, long-term complications appear even under good gly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::67cc73a5efe88cc784a56b5867bd583b
https://pubmed.ncbi.nlm.nih.gov/23857511
https://pubmed.ncbi.nlm.nih.gov/23857511
Autor:
Laurie E. Cohen, Jesús Pozo, Peter Bang, Gabriele Haeusler, Jan M. Wit, Hector G. Jasper, Catherine Pihoker, Jesús Argente, Elena Gallego-Gomez, Angel Campos-Barros, Christina Jacobsen, Ron G. Rosenfeld, Hermine A. van Duyvenvoorde, Wolfgang Högler, Susan Kirsch, Ricardo Gracia-Bouthelier, Horacio Domene, Vivian Hwa, Harvey K. Chiu, Olga V. Fofanova-Gambetti
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 95(9), 4184-4191
Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for IGFALS mutations on growth is unknown. Objective: The study evaluates the impact of heterozygous expre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f87d1498128dcbfb4d55a2c630ab595
https://hdl.handle.net/1887/110452
https://hdl.handle.net/1887/110452
Autor:
Mónica Fernández-Cancio, J. Martínez-Mora, E. Vicens-Calvet, M. Carrera, M. Andrade, M. Gussinyé, Antonio Perez-Aytes, Emilio Suárez García, C. Piró, Teresa Vendrell, G. Lledó, M. Del Campo, Laura Audí, Pablo Lapunzina, L. Castaño, Diego Yeste, J. Sánchez del Pozo, José Luis Arroyo, Andrés Blanco Blanco, Maria Clemente, José I Labarta, A. Carrascosa, I. Hernández de la Calle, J. A. Bermúdez de la Vega, J. Forn, Joaquim Calaf, Pilar Andaluz, J. del Valle, E. Mayayo, Nuria Toran, E. Vilaró, Isabel Salinas, M. Beneyto, O. Angerri, Ángel Segura, María Caimari, Ricardo Gracia-Bouthelier, María Angeles Albisu, M. J. Martínez-Sopena, Elisabeth Gabau, V. Borrás, M. J. Martínez-Aedo, María Luisa Granada, Antonio M. Rodríguez
Publikováno v:
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universitat Politècnica de Catalunya (UPC)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universitat Politècnica de Catalunya (UPC)
Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46, XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee95fe3c9ea372221848db8eb441771e
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12781
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12781
Autor:
Juan Pedro López-Siguero, Valeria Romanelli, Ricardo Gracia-Bouthelier, Victoria Esteban-Marfil, Luis Morís Fernández, Pablo Lapunzina, Encarna Guillén-Navarro, Karen E. Heath, Aurora Sánchez, Alberta Belinchón, Angel Campos-Barros, Sixto García-Miñaur, Sara Benito-Sanz, Rocío Mena, Graciela Mercado, Heloisa Meneses, Jan-Jaap Wesselink, Paulino Gómez-Puertas, Victor Martinez-Glez, Miguel Del Campo, Rebeca Palomo
Publikováno v:
American Journal of Medical Genetics Part A.
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes. A small number of indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888388275ffa86122a542a7a7b8dd4e3
https://doi.org/10.1002/ajmg.a.33453
https://doi.org/10.1002/ajmg.a.33453
Publikováno v:
Scopus-Elsevier
A striking feature of the overgrowth syndromes (OGS) is the risk of cancer. In some OGS (Beckwith-Wiedemann, Perlman, Simpson-Golabi-Behmel syndromes and hemihypertrophy) tumors appeared mostly in the abdomen (more than 94% of tumors), are usually di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf779ac632aa040e2d660876a4448ee
https://pubmed.ncbi.nlm.nih.gov/16398453
https://pubmed.ncbi.nlm.nih.gov/16398453