Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13...

Por Cardoso, Carlos, Leventer, Richard J., Ward, Heather L., Toyo-oka, Kazuhito, Chung, June, Gross, Alyssa, Martin, Christa L., Allanson, Judith, Pilz, Daniela T., Olney, Ann H., Mutchinick, Osvaldo M., Hirotsune, Shinji, Wynshaw-Boris, Anthony, Dobyns, William B., Ledbetter, David H.
Publicado em 2003

Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico

Por Contreras-Cubas, Cecilia, Sánchez-Hernández, Beatríz E., García-Ortiz, Humberto, Martínez-Hernández, Angélica, Barajas-Olmos, Francisco, Cid, Miguel, Mendoza-Caamal, Elvia C., Centeno-Cruz, Federico, Ortiz-Cruz, Gabriela, Jiménez-López, José Concepción, Córdova, Emilio J., Salas-Bautista, Eva Gabriela, Saldaña-Alvarez, Yolanda, Fernández-López, Juan Carlos, Mutchinick, Osvaldo M., Orozco, Lorena
Publicado no PLoS One (2016)

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)

Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research

Por Orioli, Iêda M., Amar, Emmanuelle, Bakker, Marian K., Bermejo-Sánchez, Eva, Bianchi, Fabrizio, Canfield, Mark A., Clementi, Maurizio, Correa, Adolfo, Csáky-Szunyogh, Melinda, Feldkamp, Marcia L., Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Szabova, Elena, Castilla, Eduardo E.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Environmental influence on the worldwide prevalence of a 776C→G variant in the transcobalamin gene (TCN2)

Por Guéant, Jean‐Louis, Chabi, Nicodème W, Guéant‐Rodriguez, Rosa‐Maria, Mutchinick, Osvaldo M, Debard, Renée, Payet, Corinne, Lu, Xiaohong, Villaume, Christian, Bronowicki, Jean‐Pierre, Quadros, Edward V, Sanni, Ambaliou, Amouzou, Emile, Xia, Bing, Chen, Min, Anello, Guido, Bosco, Paolo, Romano, Corrado, Arrieta, Heidy R, Sánchez, Beatríz E, Romano, Antonino, Herbeth, Bernard, Anwar, Wafaa, Namour, Fares
Publicado em 2007

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)

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)

Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

Por SIFFEL, CSABA, CORREA, ADOLFO, AMAR, EMMANUELLE, BAKKER, MARIAN K., BERMEJO-SÁNCHEZ, EVA, BIANCA, SEBASTIANO, CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, CSÁKY-SZUNYOGH, MELINDA, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MARENGO, LISA K., MASTROIACOVO, PIERPAOLO, MORGAN, MARGERY, MUTCHINICK, OSVALDO M., PIERINI, ANNA, RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SZABOVA, ELENA, OLNEY, RICHARD S.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Prevalence of Esophageal Atresia among 18 International Birth Defects Surveillance Programs

Por Nassar, Natasha, Leoncini, Emanuele, Amar, Emmanuelle, Arteaga-Vázquez, Jazmín, Bakker, Marian K., Bower, Carol, Canfield, Mark A., Castilla, Eduardo E., Cocchi, Guido, Correa, Adolfo, Csáky-Szunyogh, Melinda, Feldkamp, Marcia L., Khoshnood, Babak, Landau, Danielle, Lelong, Nathalie, López-Camelo, Jorge S., Lowry, R. Brian, McDonnell, Robert, Merlob, Paul, Métneki, Julia, Morgan, Margery, Mutchinick, Osvaldo M., Palmer, Miland N., Rissmann, Anke, Siffel, Csaba, Sìpek, Antonin, Szabova, Elena, Tucker, David, Mastroiacovo, Pierpaolo
Publicado no Birth Defects Res A Clin Mol Teratol (2012)