Результати пошуку - Encarna Guillén‐Navarro
- Показ 1 - 20 результатів із 22
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Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial за авторством David J. Kuter, Herbert L. Bonkovsky, Susana Monroy, Gayle Ross, Encarna Guillén‐Navarro, Maria Domenica Cappellini, Anna‐Elisabeth Minder, Ole Hother‐Nielsen, Paolo Ventura, Gang Jia, Marianne T. Sweetser, Manish Thapar
Опубліковано 2023Artigo -
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The first European consensus on principles of management for achondroplasia за авторством Valérie Cormier‐Daire, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, Sérgio B. Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillén‐Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike
Опубліковано 2021Artigo -
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Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants за авторством Leila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, Pedro Arias, Natalia Gallego, Valeria Romanelli, Piranit Nik Kantaputra, L.S. Lima, Juan Clinton Llerena Júnior, Claudia Arberas, Encarna Guillén‐Navarro, Julián Nevado, Jair Tenorio, Pablo Lapunzina
Опубліковано 2022Artigo -
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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis за авторством Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben‐Omran, Silvio Boero, Valérie Cormier‐Daire, Svein O. Fredwall, Encarna Guillén‐Navarro, Heike Hoyer‐Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa
Опубліковано 2023Artigo -
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum за авторством Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan, Eulalia Valencia, Víctor Martínez‐Glez, María Juliana Ballesta‐Martínez, Vanesa López‐González, Adel M. Ashour, Khalda Amr, Verónica Pulido, Encarna Guillén‐Navarro, Pablo Lapunzina, José A. Caparrós‐Martín, Víctor L. Ruiz‐Pérez
Опубліковано 2012Artigo -
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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 за авторством Sara Bernal, Laura Alías, M. J. Barcelo, Eva Also‐Rallo, Rebeca Martínez‐Hernández, Josep Gámez, Encarna Guillén‐Navarro, Jordi Rosell, I. Hernando, F. J. Rodriguez-Alvarez, Salud Borrego, José M. Millán, Concepción Hernández-Chico, M. Baiget, Pablo Fuentes‐Prior, Eduardo F. Tizzano
Опубліковано 2010Carta -
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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia за авторством Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G. Brunner, Wim Brussel, Encarna Guillén‐Navarro, Claudia M. Haase, Juergen Kohlhase, Dieter Kotzot, Andrew Lane, Min Ae Lee‐Kirsch, Susanne Morlot, Marleen Simon, Elisabeth Steichen‐Gersdorf, David Tegay, Hartmut Peters, Stefan Mundlos, Eva Klopocki
Опубліковано 2010Artigo -
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Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants за авторством Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez‐Carrizosa, Sara Benito‐Sanz, Eva López-Messa, Fernando Santos, I. García‐Recuero, A. Romance, Juliana María Ballesta-Martínez, Vanesa López‐González, Ángel Campos‐Barros, Jaime Cruz‐Rojo, Encarna Guillén‐Navarro, Jaime Sánchez del Pozo, Pablo Lapunzina, Sixto García‐Miñaúr, Karen E. Heath
Опубліковано 2014Artigo -
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Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis за авторством Allan M. Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil‐Campos, Linda De Meırleır, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki‐Szymańska, M. López Rodríguez, Encarna Guillén‐Navarro, Christine í Dali, Bénédicte Héron, J. Fogh, Nicole Muschol, Dawn Phillips, J. M. Hannerieke Van den Hout, Simon Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon
Опубліковано 2018Artigo -
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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease за авторством Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf A. Bodamer, Iain Bruce, Linda De Meırleır, Nathalie Guffon, Encarna Guillén‐Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine Lavery, Elisa Leão Teles, Bianca Link, Allan M. Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki‐Szymańska, Ans van der Ploeg, Robert Walker, J Zeman, J. E. Wraith
Опубліковано 2011Artigo -
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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability за авторством Paul R. Kasher, Katherine E. Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María Juliana Ballesta‐Martínez, Philippe M. Campeau, Peter Clayton, Jennifer L. Eaton, Tiziana Granata, Encarna Guillén‐Navarro, Cristina Hernándo, Caroline E. Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel‐Richard, Catherine Sarret, Francesca L. Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka
Опубліковано 2016Artigo -
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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study за авторством Mohamad Maghnie, Oliver Semler, Encarna Guillén‐Navarro, Angelo Selicorni, Karen E. Heath, G. Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos‐Simarro, Diana‐Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne M. Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike
Опубліковано 2023Artigo -
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Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta за авторством José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Eulalia Valencia, Julián Nevado, Elena Vallespín, Ángela del Pozo, Carmen Prior de Castro, Lucia Calatrava‐Ferreras, Pilar Gutierrez, Ana M. Bueno, Belén Sagastizábal, Encarna Guillén‐Navarro, María Juliana Ballesta‐Martínez, Vanesa López González, Sarenur Yilmaz Basaran, Ruksan Büyükoğlan, Bilge Sarıkepe, Cecilia Espinoza‐Valdez, Francisco Cammarata‐Scalisi, Víctor Martínez‐Glez, Karen E. Heath, Pablo Lapunzina, Víctor L. Ruiz‐Pérez
Опубліковано 2016Artigo -
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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals за авторством Julián Nevado, Sixto García‐Miñaúr, María Palomares‐Bralo, Elena Vallespín, Encarna Guillén‐Navarro, Jordi Rosell, Cristina Bel‐Fenellós, María Ángeles Mori, Montserrat Milà, Miguel Del Campo, Pilar Barrúz, Fernando Santos‐Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis A. Pérez‐Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Darío Ortigoza‐Escobar, Blanca Gener, Verónica Seidel, Pilar Tirado, Pablo Lapunzina
Опубліковано 2022Artigo -
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A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling за авторством Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik
Опубліковано 2013Artigo -
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CSVS, a crowdsourcing database of the Spanish population genetic variability за авторством María Peña-Chilet, Gema Roldán, Javier Pérez-Florido, Francisco Ortuño, Rosario Carmona, Virginia Aquino, Daniel López-López, Carlos Loucera, Jose L. Fernández-Rueda, Asunción Gallego, Francisco García‐García, Anna González‐Neira, Guillermo Pita, Rocío Núñez‐Torres, Javier Santoyo‐López, Carmen Ayuso, Pablo Mínguez, Almudena Ávila‐Fernández, Marta Cortón, Miguel A. Moreno‐Pelayo, Matías Morin, Álvaro Gallego-Martinez, José A. López‐Escámez, Salud Borrego, Guillermo Antiñolo, Jorge Amigo, Josefa Salgado, Sara Pasalodos-Sánchez, Beatriz Morte, Fátima Al‐Shahrour, Rafael Artuch, Javier Benı́tez, Luís Castaño, Ignacio del Castillo, Aitor Delmiro, Carmen Espinós, R Estrada González, Daniel Grinberg, Encarna Guillén‐Navarro, Pablo Lapunzina, Esther López, Ramón Martí, Montserrat Milá, José M. Millán, Virginia Nunes, Francesc Palau, Belén Pérez, Luis Pérez Jurado, Rosario Perona, Aurora Pujol, Feliciano J. Ramos, Antònia Ribes, Jordi Rosell, Eulalia Rovira, Jordi Surrallés, Isabel Tejada, Magdalena Ugarte, Ãngel Carracedo, Ángel Alonso, Joaquı́n Dopazo
Опубліковано 2020Artigo -
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance за авторством Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff
Опубліковано 2014Artigo -
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome за авторством Silvia M. Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Campello Blasco, Jean-Rémi Trotta, Sophia Derdak, María del Mar O’Callaghan, Àngels García‐Cazorla, Mercè Pineda, Judith Armstrong, Francisco Javier Aguirre, Montserrat Aleu, Xènia Alonso, Mercè Alsius, Maria Inmaculada Amorós, Guillermo Antiñolo, Lourdes Aquino, María del Carmen Arellano Gálvez, Gema Arriola, Rosa Arteaga, Neus Baena, Montserrat Barcos, Nuria Belzunces, Susana Boronat, Tomás Camacho, Jaume Campistol, Miguel Del Campo, Andrea Campo, Ramon Cancho, R Candau, Ignacio Canós, María del Carmen Carrascosa, Francisco Carratalá-Marco, Carmen Jovaní Casano, P. Castro, Ana María Cobo, J. Colomer, David Conejo, Maria José Corrales, Rocío Jiménez Cortés, Gabriel Cruz, Gábor Csányi, María Teresa de Santos, María de Toledo, Mireia del Toro, Rosario Domingo‐Jiménez, Anna Duat, Rosario Duque, Ana María Esparza, Rosa Fernández, Maria Carme Fons, Ana Fontalba, Enrique Galán, P. Gallano, María José Gamundi, Pedro Luis García, María del Mar del Aguila García, María García‐Barcina, María Jesús Garcia-Catalan, Sixto García‐Miñaúr, Juan José García‐Peñas, María Teresa García‐Silva, Rosa Gassio, Esther Geán, Belén Gil, Sarenur Gökben, Luis A. González, Verónica Gómez González, Julieta González, Gloria González, Encarna Guillén‐Navarro, Míriam Guitart, Montserrat Guitet, Juan Manuel Gutiérrez, Eva Gutiérrez, J L Herranz, Gemma Iglesias, Iva Karačić, Carlos Lahoz, José I. Lao, Pablo Lapunzina, María Jesús Lautre-Ecenarro, María Dolores Lluch, Laura López de Frutos, Asunción López-Ariztegui, Alfons Macaya, Rosario Marín, Charles M. Lourenço Marquez, Elena Martín, Beatriz Martínez, Eduardo Martínez-Salcedo, María José Mas, Gonzálo Mateo, Pilar Méndez, Amparo Morant Jimenez, Sira Moreno, Fernando Mulas, Juan Narbona, A. Nascimento
Опубліковано 2017Artigo -
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients за авторством Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso, Laura Campello Blasco, Núria Brandi, Paola Pacheco, Edgar Gerotina, Mar O’Callaghan, Mercè Pineda, Judith Armstrong, Francisco Javier Aguirre, Montserrat Aleu, Xènia Alonso, Mercè Alsius, Maria Inmaculada Amorós, Guillermo Antiñolo, Lourdes Aquino, María del Carmen Arellano Gálvez, Gema Arriola, Rosa Arteaga, Neus Baena, Montserrat Barcos, Nuria Belzunces, Susana Boronat, Tomás Camacho, Jaume Campistol, Miguel Del Campo, Andrea Campo, Ramon Cancho, R Candau, Ignacio Canós, María del Carmen Carrascosa, Francisco Carratalá-Marco, Carmen Jovaní Casano, Pedro Castro, Ana María Cobo, J. Colomer, David Conejo, Maria José Corrales, Rocío Jiménez Cortés, Gabriel Cruz, Gábor Csányi, María Teresa de Santos, María de Toledo, Miguel Del Campo, Mireia del Toro, Rosario Domingo‐Jiménez, Anna Duat, Rosario Duque, Ana María Esparza, Rosa Fernández, Maria Carme Fons, Ana Fontalba, Enrique Galán, P. Gallano, María José Gamundi, Pedro Luis García, María del Mar del Aguila García, María García‐Barcina, María Jesús Garcia-Catalan, Àngels García‐Cazorla, Sixto García‐Miñaúr, Juan José García‐Peñas, María Teresa García‐Silva, Rosa Gassio, Esther Geán, Belén Gil, Sarenur Gökben, Luís Miguel González, Verónica Gómez González, Julieta González, Gloria González, Encarna Guillén‐Navarro, Míriam Guitart, Montserrat Guitet, Juan Manuel Gutiérrez, Eva Gutiérrez, J L Herranz, Gemma Iglesias, Iva Karačić, Carlos Lahoz, José I. Lao, Pablo Lapunzina, María Jesús Lautre-Ecenarro, María Dolores Lluch, Laura López de Frutos, Asunción López-Ariztegui, Alfons Macaya, Rosario Marín, Charles M. Lourenço Marquez, Elena Martín, Beatriz Martínez, Eduardo Martínez-Salcedo, María José Mas, Gonzálo Mateo, Pilar Méndez, Amparo Morant Jimenez, Sira Moreno, Fernando Mulas, Juan Narbona
Опубліковано 2019Artigo
Інструменти для пошуку:
Пов'язані теми
Biology
Gene
Genetics
Medicine
Phenotype
Mutation
Internal medicine
Bioinformatics
Achondroplasia
Anatomy
Computational biology
Computer science
Rett syndrome
Allele
Chemistry
Cohort
Craniosynostosis
DNA methylation
Gene expression
Human genetics
Law
Medical genetics
Multidisciplinary approach
Osteogenesis imperfecta
Pathology
Pediatrics
Political science
Surgery
X chromosome
ABCA4