The incidence of gastroschisis: Is also increasing in Spain, particularly among babies of young mothers

Por Bermejo, Eva, Mendioroz, Jacobo, Cuevas, Lourdes, Martínez-Frías, María-Luisa
Publicado em 2006

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Por Rodríguez, Laura, Liehr, Tomas, Martínez-Fernández, María Luisa, Lara, Ana, Torres, Antonio, Martínez-Frías, María Luisa
Publicado em 2008

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

Por Garrido-Allepuz, Carlos, Haro, Endika, González-Lamuño, Domingo, Martínez-Frías, María Luisa, Bertocchini, Federica, Ros, Maria A.
Publicado em 2011

Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

Por Fernández-Toral, Joaquín, Rodríguez, Laura, Plasencia, Ana, Martínez-Frías, María Luisa, Ewers, Elisabeth, Hamid, Ahmed B, Ziegler, Monika, Liehr, Thomas
Publicado em 2010

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo‐telomere formation

Por Chabchoub, Elyes, Rodríguez, Laura, Galán, Enrique, Mansilla, Elena, Martínez‐Fernandez, Maria Luisa, Martínez‐Frías, Maria Luisa, Fryns, Jean‐Pierre, Vermeesch, Joris Robert
Publicado em 2007

Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of...

Por Bermejo-Sánchez, Eva, Cuevas, Lourdes, Amar, Emmanuelle, Bianca, Sebastiano, Bianchi, Fabrizio, Botto, Lorenzo D., Canfield, Mark A., Castilla, Eduardo E., Clementi, Maurizio, Cocchi, Guido, Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Siffel, Csaba, Szabova, Elena, Martínez-Frías, María-Luisa
Publicado no Am J Med Genet C Semin Med Genet (2011)

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Lite...

Por BERMEJO-SÁNCHEZ, EVA, CUEVAS, LOURDES, AMAR, EMMANUELLE, BAKKER, MARIAN K., BIANCA, SEBASTIANO, BIANCHI, FABRIZIO, CANFIELD, MARK A., CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MASTROIACOVO, PIERPAOLO, MUTCHINICK, OSVALDO M., RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SIFFEL, CSABA, SZABOVA, ELENA, MARTÍNEZ-FRÍAS, MARÍA-LUISA
Publicado no Am J Med Genet C Semin Med Genet (2011)

Sirenomelia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research, and Literature Review

Por ORIOLI, IÊDA M., AMAR, EMMANUELLE, ARTEAGA-VAZQUEZ, JAZMIN, BAKKER, MARIAN K., BIANCA, SEBASTIANO, BOTTO, LORENZO D., CLEMENTI, MAURIZIO, CORREA, ADOLFO, CSAKY-SZUNYOGH, MELINDA, LEONCINI, EMANUELE, LI, ZHU, LÓPEZ-CAMELO, JORGE S., LOWRY, R. BRIAN, MARENGO, LISA, MARTÍNEZ-FRÍAS, MARÍA-LUISA, MASTROIACOVO, PIERPAOLO, MORGAN, MARGERY, PIERINI, ANNA, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SZABOVA, ELENA, CASTILLA, EDUARDO E.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

Por MUTCHINICK, OSVALDO M., LUNA-MUÑOZ, LEONORA, AMAR, EMMANUELLE, BAKKER, MARIAN K., CLEMENTI, MAURIZIO, COCCHI, GUIDO, DUTRA, MARIA DA GRAÇA, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, BRIAN, MARENGO, LISA K., MARTÍNEZ-FRÍAS, MARÍA-LUISA, MASTROIACOVO, PIERPAOLO, MÉTNEKI, JULIA, MORGAN, MARGERY, PIERINI, ANNA, RISSMAN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SIFFEL, CSABA, SZABOVA, ELENA, ARTEAGA-VÁZQUEZ, JAZMÍN
Publicado no Am J Med Genet C Semin Med Genet (2011)

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Por 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
Publicado em 2011

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

Por Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Publicado em 2011