Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Sarkozy, Anna, López Siguero, Juan P, Tartaglia, Marco, Ackerman, Michael J, Rossi, Cesare, Digilio, Maria C, Mundel, Peter, Torrente, Isabella, Tenconi, Romano, Mazzanti, Laura, Selicorni, Angelo, Landstrom, Andrew, Marino, Bruno, Bos, J Martijn, Pogna, Edgar A, Oishi, Kimihiko, Gelb, Bruce D, Martinelli, Simone, Schackwitz, Wendy, Pennacchio, Len A, Carta, Claudio, Pandit, Bhaswati, Ustaszewska, Anna, Zampino, Giuseppe, Ommen, Steve R, Dallapiccola, Bruno, Esposito, Giorgia, Lepri, Francesca, Faul, Christian
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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Growth hormone treatment does not to lead to insulin resistance nor excessive rise in IGF‐1 levels, while improving height in patients small for gestational age A long‐term observational study
López‐Siguero, Juan P., Martínez‐Aedo, Maria J., Bermúdez de la Vega, Jose Antonio, Bosch‐Muñoz, Jordi, Lechuga‐Sancho, Alfonso M., Villalobos, Triana
Published in Clinical endocrinology (Oxford) (01.04.2022)
Published in Clinical endocrinology (Oxford) (01.04.2022)
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Journal Article
Individualised vs fixed dose of oral 17β-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial
Labarta, José I, Moreno, Maria L, López-Siguero, Juan P, Luzuriaga, Cristina, Rica, Itxaso, Sánchez-del Pozo, Jaime, Gracia-Bouthelier, Ricardo
Published in European journal of endocrinology (01.10.2012)
Published in European journal of endocrinology (01.10.2012)
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Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease
Ezquieta, Begoña, Santomé, Luis, Barrio, Raquel, Barrionuevo, Jose L., López-Siguero, Juan P., Oliver, Antonio, Ramírez, Joaquín, Rodríguez, Ildefonso, Muñoz-Pacheco, Rafael
Published in Prenatal diagnosis (01.08.2010)
Published in Prenatal diagnosis (01.08.2010)
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Early Nutritional Education in the Prevention of Childhood Obesity
Gato-Moreno, Mario, Martos-Lirio, María F., Leiva-Gea, Isabel, Bernal-López, M. Rosa, Vegas-Toro, Fernando, Fernández-Tenreiro, María C., López-Siguero, Juan P.
Published in International journal of environmental research and public health (18.06.2021)
Published in International journal of environmental research and public health (18.06.2021)
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Journal Article
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P, Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R, Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D, Brain, Caroline E, Suntharalingham, Jenifer P, Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A, Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S, McInerney-Leo, Aideen M, Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P, Harris, Mark, Duncan, Emma L, Hindmarsh, Peter C, Auchus, Richard J, Donaldson, Malcolm D, Achermann, John C, Metherell, Louise A
Published in Journal of the Endocrine Society (01.01.2019)
Published in Journal of the Endocrine Society (01.01.2019)
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Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
Estévez, Amaia Rodríguez, Pérez-Nanclares, Gustavo, Fernández-Toral, Joaquin, Rivas-Crespo, Francisco, López-Siguero, Juan P., Díez, Ignacio, Grau, Gema, Castaño, Luis
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2015)
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2015)
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The DATAC study: a new growth database. Description of the epidemiology, diagnosis and therapeutic attitude in a group of Spanish children with short stature
Rodríguez Arnao, María Dolores, Sánchez, Amparo Rodríguez, García-Rey, César, Arroyo Díez, Francisco Javier, Estrada, Ramón Cañete, Cuartero, Beatriz García, Merillas, María Alija, López-Siguero, Juan P.
Published in Journal of Pediatric Endocrinology & Metabolism (01.11.2014)
Published in Journal of Pediatric Endocrinology & Metabolism (01.11.2014)
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Increased incidence of type 1 diabetes in the south of Spain
López-Siguero, Juan P, Del Pino-De la Fuente, Almudena, Martínez-Aedo, María J, Moreno-Molina, José A
Published in Diabetes care (01.06.2002)
Published in Diabetes care (01.06.2002)
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Adipose tissue characteristics related to weight z-score in childhood
Haro-Mora, Juan Jesus, Garcia-Escobar, Eva, Porras, Nuria, Alcazar, Dolores, Gaztambide, Joaquin, Ruiz-Orpez, Antonio, Garcia-Serrano, Sara, Gomez-Zumaquero, Juan M, Garcia-Fuentes, Eduardo, Lopez-Siguero, Juan P, Soriguer, Federico, Rojo-Martinez, Gemma
Published in International journal of endocrinology and metabolism (2013)
Published in International journal of endocrinology and metabolism (2013)
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Journal Article
Aldosterone Synthase Deficiency Type I: Hormonal and Genetic Analyses of Two Cases
López-Siguero, Juan P., García-García, Emilio, Peter, Michael, Sippell, Wolfgang G.
Published in Hormone research (01.01.1999)
Published in Hormone research (01.01.1999)
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Neonatal Hyperthyroidism m Infants of Mothers Previously Thyroidectomized due to Graves’ Disease
Borras-Perez, Maria Victoria, Moreno-Pérez, David, Zuasnabar-Cotro, Amalia, López-Siguero, Juan P.
Published in Journal of Pediatric Endocrinology and Metabolism (01.09.2001)
Published in Journal of Pediatric Endocrinology and Metabolism (01.09.2001)
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