Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype von Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo

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Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation von Chabchoub, Elyes, Rodríguez, Laura, Galán, Enrique, Mansilla, Elena, Luisa Martínez-Fernandez, Maria, Luisa Martínez-Frías, Maria, Fryns, Jean-Pierre, Robert Vermeesch, Joris

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A 2.84Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome von Carrascosa-Romero, María Carmen, Suela, Javier, Pardal-Fernandez, José Manuel, Bermejo-Sanchez, Eva, Vidal-Company, Alberto, MacDonald, Alexandra, Tebar-Gil, Roque, Martinez-Fernandez, María Luisa, Martinez-Frias, María Luisa

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Paper 6: EUROCAT member registries: Organization and activities von Greenlees, Ruth, Neville, Amanda, Addor, Marie-Claude, Amar, Emmanuelle, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Boyd, Patricia A., Calzolari, Elisa, Doray, Berenice, Draper, Elizabeth, Emil Vollset, Stein, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Kallen, Karin, Khoshnood, Babak, Latos-Bielenska, Anna, Martinez-Frias, Maria-Luisa, Materna-Kiryluk, Anna, Matias Dias, Carlos, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, O'Mahony, Mary, Pierini, Anna, Queisser-Luft, Annette, Randrianaivo-Ranjatoélina, Hanitra, Rankin, Judith, Rissmann, Anke, Ritvanen, Annukka, Salvador, Joaquin, Sipek, Antonin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Wertelecki, Wladimir

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A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies von Álvarez, Luis Francisco González, Tenorio‐Castaño, Jair, Poletta, Fernando A., Santos‐Simarro, Fernando, Arias, Pedro, Gallego, Natalia, Orioli, Iêda Maria, Mundlos, Stefan, Castilla, Eduardo E., Martínez‐Glez, Víctor, Martínez‐Frías, María Luisa, Ruiz‐Pérez, Víctor L., Nevado, Julián, Lapunzina, Pablo

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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date von Martínez-Fernández, María Luisa, Fernández-Toral, Joaquin, Llano-Rivas, Isabel, Bermejo-Sánchez, Eva, MacDonald, Alexandra, Martínez-Frías, María Luisa

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The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case von Rodríguez, Laura, Zollino, Marcella, Climent, Salvador, Mansilla, Elena, López‐Grondona, Fermina, Martínez‐Fernández, María Luisa, Murdolo, Marina, Martínez‐Frías, María Luisa

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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome von Martínez-Fernández, María Luisa, Bermejo-Sánchez, Eva, Fernández, Belén, MacDonald, Alexandra, Fernández-Toral, Joaquín, Martínez-Frías, María Luisa

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Can our understanding of epigenetics assist with primary prevention of congenital defects? von Martínez-Frías, María Luisa

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Gastroschisis and associated defects: An international study von Mastroiacovo, Pierpaolo, Lisi, Alessandra, Castilla, Eduardo E., Martínez-Frías, María-Luisa, Bermejo, Eva, Marengo, Lisa, Kucik, Jim, Siffel, Csaba, Halliday, Jane, Gatt, Miriam, Annerèn, Göran, Bianchi, Fabrizio, Canessa, M. Aurora, Danderfer, Ron, de Walle, Hermien, Harris, John, Li, Zhu, Lowry, R. Brian, McDonell, Robert, Merlob, Paul, Metneki, Julia, Mutchinick, Osvaldo, Robert-Gnansia, Elisabeth, Scarano, Gioacchino, Sipek, Antonin, Pötzsch, Simone, Szabova, Elena, Yevtushok, Lyubov

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Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome von Arroyo-Carrera, Ignacio, de Zaldívar Tristancho, María Solo, Bermejo-Sánchez, Eva, Martínez-Fernández, María Luisa, López-Lafuente, Amparo, MacDonald, Alexandra, Zúñiga, Ángel, Luis Gómez-Skarmeta, José, Luisa Martínez-Frías, María

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Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation von Martínez-Frías, María Luisa, Ocejo-Vinyals, Javier Gonzalo, Arteaga, Rosa, Martínez-Fernández, María Luisa, MacDonald, Alexandra, Pérez-Belmonte, Elena, Bermejo-Sánchez, Eva, Martínez, Salvador

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Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures von Martínez-Frías, María Luisa

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Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus von FRIAS, Jaime L, FRIAS, Juan P, FRIAS, Patricio A, MARTINEZ-FRIAS, Maria Luisa

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Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: A case-control study von Martínez-Frías, Maria Luisa, Bermejo, Eva, Rodríguez-Pinilla, Elvira, Frías, Jaime Luis

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection von Crow, Yanick J, Leitch, Andrea, Hayward, Bruce E, Garner, Anna, Parmar, Rekha, Griffith, Elen, Ali, Manir, Semple, Colin, Aicardi, Jean, Babul-Hirji, Riyana, Baumann, Clarisse, Baxter, Peter, Bertini, Enrico, Chandler, Kate E, Chitayat, David, Cau, Daniel, Déry, Catherine, Fazzi, Elisa, Goizet, Cyril, King, Mary D, Klepper, Joerg, Lacombe, Didier, Lanzi, Giovanni, Lyall, Hermione, Martínez-Frías, María Luisa, Mathieu, Michèle, McKeown, Carole, Monier, Anne, Oade, Yvette, Quarrell, Oliver W, Rittey, Christopher D, Rogers, R Curtis, Sanchis, Amparo, Stephenson, John B P, Tacke, Uta, Till, Marianne, Tolmie, John L, Tomlin, Pam, Voit, Thomas, Weschke, Bernhard, Woods, C Geoffrey, Lebon, Pierre, Bonthron, David T, Ponting, Chris P, Jackson, Andrew P

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Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register von Martínez-Frías, María-Luisa

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Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia von Martínez-Frías, María Luisa, de Frutos, Cristina A., Bermejo, Eva, Nieto, M. Angela

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Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome von Nevado, Julián, Bel-Fenellós, Cristina, Sandoval-Talamantes, Ana Karen, Hernández, Adolfo, Biencinto-López, Chantal, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Sáenz-Rico, Belén, Martínez-Frías, María Luisa, Lapunzina, Pablo

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Conjoined twins presenting with different sex: Description of a second case that truly represents the earliest historical evidence in humans von Martínez-Frías, María Luisa

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