De novo mutations in PLXND1 and REV3L cause Möbius syndrome von Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G., Singh, Manvendra K., Epstein, Jonathan A., Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P. M., Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W., van Bokhoven, Hans

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Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos‐Machancoses et al. () von Pérez‐Aytés, Antonio, Arcos‐Machancoses, José V., Marin Reina, Purificacion, Jimenez Busselo, M. Teresa, Martínez, Francisco

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Postnatal development of fetuses with a single umbilical artery: differences between malformed and non-malformed infants von Arcos-Machancoses, Jose Vicente, Marín-Reina, Purificación, Romaguera-Salort, Eugenia, García-Camuñas, Yolanda, Pérez-Aytés, Antonio, Vento, Máximo

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In silico identification of new candidate genes for hereditary congenital facial paresis von Tomás-Roca, Laura, Pérez-Aytés, Antonio, Puelles, Luis, Marín, Faustino

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Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway von Ejarque, Ismael, Millán-Salvador, José M, Oltra, Silvestre, Pesudo-Martínez, José V, Beneyto, Magdalena, Pérez-Aytés, Antonio

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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes von Martinez, Francisco, Marín-Reina, Purificación, Sanchis-Calvo, Amparo, Perez-Aytés, Antonio, Oltra, Silvestre, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Pantoja, Jorge, Orellana, Carmen

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Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion von Herrero-García, Ana, Marín-Reina, Purificación, Cabezuelo-Huerta, Gloria, Ferrer-Lorente, M. Belén, Rosello, Mónica, Orellana, Carmen, Martínez, Francisco, Pérez-Aytés, Antonio

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Cribado neonatal genómico. Perspectiva de la comisión de ética de la asociación española de genética humana. Parte II: Aspectos éticos, legales y sociales (AELS) de la introducción... von García Sagredo, José Miguel, Blanco Guillermo, Ignacio, Pàmpols Ros, Teresa, Díaz de Bustamante, Aránzazu, Pérez Aytés, Antonio

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Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy von Ezquieta, Begoña, Santomé, José L., Carcavilla, Atilano, Guillén-Navarro, Encarna, Pérez-Aytés, Antonio, Sánchez del Pozo, Jaime, García-Miñaur, Sixto, Castillo, Emilia, Alonso, Milagros, Vendrell, Teresa, Santana, Alfredo, Maroto, Enrique, Galbis, Liliana

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Medio siglo de cribado neonatal en España: Evolución de los aspectos éticos, legales y sociales (AELS). Parte III, aspectos sociales von García Sagredo, José Miguel, Martín Arribas, María Concepción, Nicolás Jiménez, Pilar, Labrador Cañadas, María Vicenta, Pàmpols Ros, Teresa, Díaz de Bustamante, Aránzazu, Dulín Iñiguez, Elena, Pérez Aytés, Antonio, García López, Fernando José

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Malformación de Arnold-Chiari en el síndrome de Noonan y otros síndromes de la vía RAS/MAPK von Ejarque, Ismael, Millán Salvador, José María, Oltra, Silvestre, Pesudo Martínez, José Vicente, Beneyto, Magdalena, Pérez Aytés, Antonio

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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 von 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.

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Pruebas genéticas de venta directa a los consumidores. Perspectiva de la Comisión de Ética de la Asociación Española de Genética Humana von Pàmpols Ros, Teresa, García Sagredo, José Miguel, Pérez Aytés, Antonio, Díaz de Bustamante, Aranzazu

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Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome von Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin

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Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5 von Martinez-Garcia, Monica, Garcia-Canto, Eva, Fenollar-Cortes, Maria, Aytes, Antonio Perez, Trujillo-Tiebas, María José

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Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling von Valencia, Maria, Lapunzina, Pablo, Lim, Derek, Zannolli, Raffaella, Bartholdi, Deborah, Wollnik, Bernd, Al-Ajlouni, Othman, Eid, Suhair S, Cox, Helen, Buoni, Sabrina, Hayek, Joseph, Martinez-Frias, Maria L, Antonio, Perez-Aytes, Temtamy, Samia, Aglan, Mona, Goodship, Judith A, Ruiz-Perez, Victor L

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Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs von Scambler, Peter J, Jadeja, Shalini, Smyth, Ian, Pitera, Jolanta E, Taylor, Martin S, van Haelst, Mieke, Bentley, Elizabeth, McGregor, Lesley, Hopkins, Jason, Chalepakis, Georges, Philip, Nicole, Perez Aytes, Antonio, Watt, Fiona M, Darling, Susan M, Jackson, Ian, Woolf, Adrian S

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Directed to consumer genetic testing. Perspective from the Ethics commission of the Spanish Society for Human Genetics von Pàmpols Ros, Teresa, García Sagredo, José Miguel, Pérez Aytés, Antonio, Díaz de Bustamante, Aranzazu

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Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome von Perez-Aytes, Antonio, Marin-Reina, Purificacion, Boso, Virginia, Ledo, Ana, Carey, John C, Vento, Maximo

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Mycophenolate Mofetil During Pregnancy: Some Words of Caution von Vento, Maximo, Perez Aytes, Antonio, Ledo, Ana, Boso, Virginia, Carey, John C

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