Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

Por Guillén-Navarro, Encarna, Domingo-Jiménez, María Rosario, Alcalde-Martín, Carlos, Cancho-Candela, Ramón, Couce, María Luz, Galán-Gómez, Enrique, Alonso-Luengo, Olga
Publicado em 2013

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Por Zieg, Jakub, Krepelova, Anna, Baradaran-Heravi, Alireza, Levtchenko, Elena, Guillén-Navarro, Encarna, Balascakova, Miroslava, Sukova, Martina, Seeman, Tomas, Dusek, Jiri, Simankova, Nadezda, Rosik, Tomas, Skalova, Sylva, Lebl, Jan, Boerkoel, Cornelius F
Publicado em 2011

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Por Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Publicado em 2013

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

Por Araujo-Vilar, David, Sánchez-Iglesias, Sofía, Guillín-Amarelle, Cristina, Castro, Ana, Lage, Mary, Pazos, Marcos, Rial, José Manuel, Blasco, Javier, Guillén-Navarro, Encarna, Domingo-Jiménez, Rosario, del Campo, María Ruiz, González-Méndez, Blanca, Casanueva, Felipe F.
Publicado no Endocrine (2014)

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

Por de la Morena-Barrio, Maria E, Hernández-Caselles, Trinidad, Corral, Javier, García-López, Roberto, Martínez-Martínez, Irene, Pérez-Dueñas, Belen, Altisent, Carmen, Sevivas, Teresa, Kristensen, Soren R, Guillén-Navarro, Encarna, Miñano, Antonia, Vicente, Vicente, Jaeken, Jaak, Lozano, Maria L
Publicado em 2013

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Por Paumard-Hernández, Beatriz, Berges-Soria, Julia, Barroso, Eva, Rivera-Pedroza, Carlos I, Pérez-Carrizosa, Virginia, Benito-Sanz, Sara, López-Messa, Eva, Santos, Fernando, García-Recuero, Ignacio I, Romance, Ana, Ballesta-Martínez, Juliana María, López-González, Vanesa, Campos-Barros, Ángel, Cruz, Jaime, Guillén-Navarro, Encarna, Sánchez del Pozo, Jaime, Lapunzina, Pablo, García-Miñaur, Sixto, Heath, Karen E
Publicado no Eur J Hum Genet (2015)

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Por 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, Leão Teles, Elisa, 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
Publicado em 2011

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Por 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
Publicado no Am J Hum Genet (2016)

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Por Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Publicado no Mol Genet Genomic Med (2016)

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F
Publicado em 2012-09-01

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Publicado em 2012

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Por Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.
Publicado em 2014