Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis
Sparrow, Duncan B., Guillén-Navarro, Encarna, Fatkin, Diane, Dunwoodie, Sally L.
Published in Human molecular genetics (01.12.2008)
Published in Human molecular genetics (01.12.2008)
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The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
Bernal, S, Alías, L, Barceló, M J, Also-Rallo, E, Martínez-Hernández, R, Gámez, J, Guillén-Navarro, E, Rosell, J, Hernando, I, Rodríguez-Alvarez, F J, Borrego, S, Millán, J M, Hernández-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, E F
Published in Journal of medical genetics (01.09.2010)
Published in Journal of medical genetics (01.09.2010)
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Journal Article
compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia
Moya-Quiles, M. R, Ballesta-Martínez, M. J, López-González, V, Glover, G, Guillén-Navarro, E
Published in Archives of Dermatological Research (01.05.2010)
Published in Archives of Dermatological Research (01.05.2010)
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Journal Article
Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence
Sánchez-Soler, M J, Barreda-Sánchez, M, Ballesta-Martínez, M J, Glóver, G, Guillén-Navarro, E
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.02.2016)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.02.2016)
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Journal Article
Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin
López-Exposito, I., Guillén-Navarro, E., Bafallíu, J.A., Bernabé, M. Carmen, Escalona, A., Fuster, C.
Published in European journal of medical genetics (01.11.2006)
Published in European journal of medical genetics (01.11.2006)
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A comparative study of the elective treatment of variceal hemorrhage with β-blockers, transendoscopic sclerotherapy, and surgery : A prospective, controlled, and randomized trial during 10 years
OROZCO, H, MERCADO, M. A, CHAN, C, GUILLEN-NAVARRO, E, LOPEZ-MARTINEZ, L. M
Published in Annals of surgery (01.08.2000)
Published in Annals of surgery (01.08.2000)
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Journal Article
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
Maghnie, Mohamad, Semler, Oliver, Guillen-Navarro, Encarna, Selicorni, Angelo, Heath, Karen E, Haeusler, Gabriele, Hagenäs, Lars, Merker, Andrea, Leiva-Gea, Antonio, González, Vanesa López, Raimann, Adalbert, Rehberg, Mirko, Santos-Simarro, Fernando, Ertl, Diana-Alexandra, Gregersen, Pernille Axél, Onesimo, Roberta, Landfeldt, Erik, Jarrett, James, Quinn, Jennifer, Rowell, Richard, Pimenta, Jeanne, Cohen, Shelda, Butt, Thomas, Shediac, Renée, Mukherjee, Swati, Mohnike, Klaus
Published in Orphanet journal of rare diseases (15.03.2023)
Published in Orphanet journal of rare diseases (15.03.2023)
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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Teles, Elisa Leão, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Published in Orphanet journal of rare diseases (07.11.2011)
Published in Orphanet journal of rare diseases (07.11.2011)
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Real-world evidence in achondroplasia: considerations for a standardized data set
Alanay, Yasemin, Mohnike, Klaus, Nilsson, Ola, Alves, Inês, AlSayed, Moeenaldeen, Appelman-Dijkstra, Natasha M, Baujat, Genevieve, Ben-Omran, Tawfeg, Breyer, Sandra, Cormier-Daire, Valerie, Gregersen, Pernille Axél, Guillén-Navarro, Encarna, Högler, Wolfgang, Maghnie, Mohamad, Mukherjee, Swati, Cohen, Shelda, Pimenta, Jeanne, Selicorni, Angelo, Semler, J Oliver, Sigaudy, Sabine, Popkov, Dmitry, Sabir, Ian, Noval, Susana, Sessa, Marco, Irving, Melita
Published in Orphanet journal of rare diseases (26.06.2023)
Published in Orphanet journal of rare diseases (26.06.2023)
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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
Kasher, Paul R., Schertz, Katherine E., Thomas, Megan, Jackson, Adam, Annunziata, Silvia, Ballesta-Martinez, María J., Campeau, Philippe M., Clayton, Peter E., Eaton, Jennifer L., Granata, Tiziana, Guillén-Navarro, Encarna, Hernando, Cristina, Laverriere, Caroline E., Liedén, Agne, Villa-Marcos, Olaya, McEntagart, Meriel, Nordgren, Ann, Pantaleoni, Chiara, Pebrel-Richard, Céline, Sarret, Catherine, Sciacca, Francesca L., Wright, Ronnie, Kerr, Bronwyn, Glasgow, Eric, Banka, Siddharth
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Journal Article
Revisión de 22 casos de deleción 22q11.2: espectro fenotípico
Ballesta Martínez, M.J, Guillén Navarro, E, López Expósito, I, Bafalliu Vidal, J.A, Domingo Jiménez, R, Guía Torrent, J.M, Robles Sánchez, F, Sánchez Solís de Querol, M
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.10.2008)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.10.2008)
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PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria
Riera-Mestre, A., García Morillo, J.S., Castelbón Fernández, J., Hernández-Contreras, M.E., Aguilera Peiró, P., Jacob, J., Martínez Valle, F., Guillén-Navarro, E., Morales-Conejo, M.
Published in Revista clínica espanõla (English edition) (01.05.2024)
Published in Revista clínica espanõla (English edition) (01.05.2024)
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PRO115 DEVELOPMENT AND VALIDATION OF A MCDA FRAMEWORK FOR EVALUATION AND DECISION-MAKING OF ORPHAN DRUGS IN SPAIN
Poveda, J.L., Badia, F.J., Chugani Mahtani, D., Abad, M.R., Arias, P., Guillen-Navarro, E., Jarque, I., Posada-De-La-Paz, M., Vitoria, I.
Published in Value in health (01.11.2019)
Published in Value in health (01.11.2019)
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Paquioniquia congénita: nuevo caso asociado al gen KRT17
Micol-Martínez, O, López-González, V, Garcia-Marcos, P.W, Martínez-Menchón, T, Guillén-Navarro, E
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2016)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2016)
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