A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability

di Benítez, Edmar O., Morales, Juan J., Muñoz, Luis A., Hübner, Christian A., Mutchinick, Osvaldo M.
Pubblicato in Mol Syndromol (2018)

Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans

di Contreras-Cubas, Cecilia, García-Ortiz, Humberto, Velázquez-Cruz, Rafael, Barajas-Olmos, Francisco, Baca, Paulina, Martínez-Hernández, Angélica, Barbosa-Cobos, Rosa Elda, Ramírez-Bello, Julian, López-Hernández, Maria A., Svyryd, Yevgeniya, Mutchinick, Osvaldo M., Baca, Vicente, Orozco, Lorena
Pubblicato in Sci Rep (2019)

PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases

di Madera-Salcedo, Iris K., Sánchez-Hernández, Beatriz E., Svyryd, Yevgeniya, Esquivel-Velázquez, Marcela, Rodríguez-Rodríguez, Noé, Trejo-Zambrano, María Isabel, García-González, H. Benjamín, Hernández-Molina, Gabriela, Mutchinick, Osvaldo M., Alcocer-Varela, Jorge, Rosetti, Florencia, Crispín, José C.
Pubblicato in JCI Insight (2019)

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

di 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.
Pubblicazione 2003

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

di 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
Pubblicato in 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...

di 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
Pubblicato in 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

di 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.
Pubblicato in 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)

di 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
Pubblicazione 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...

di 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
Pubblicato in 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

di 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
Pubblicato in 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

di 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.
Pubblicato in Am J Med Genet C Semin Med Genet (2011)

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

di Franzka, Patricia, Henze, Henriette, Jung, M. Juliane, Schüler, Svenja Caren, Mittag, Sonnhild, Biskup, Karina, Liebmann, Lutz, Kentache, Takfarinas, Morales, José, Martínez, Braulio, Katona, Istvan, Herrmann, Tanja, Huebner, Antje-Kathrin, Hennings, J. Christopher, Groth, Susann, Gresing, Lennart, Horstkorte, Rüdiger, Marquardt, Thorsten, Weis, Joachim, Kaether, Christoph, Mutchinick, Osvaldo M., Ori, Alessandro, Huber, Otmar, Blanchard, Véronique, von Maltzahn, Julia, Hübner, Christian A.
Pubblicato in J Clin Invest (2021)

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry‐Based Study, 2001‐2012

di Bakker, Marian K., Kancherla, Vijaya, Canfield, Mark A., Bermejo‐Sanchez, Eva, Cragan, Janet D., Dastgiri, Saeed, De Walle, Hermien E. K., Feldkamp, Marcia L., Groisman, Boris, Gatt, Miriam, Hurtado‐Villa, Paula, Kallen, Karin, Landau, Daniella, Lelong, Nathalie, Lopez Camelo, Jorge S., Martínez, Laura, Morgan, Margery, Mutchinick, Osvaldo M., Nembhard, Wendy N., Pierini, Anna, Rissmann, Anke, Sipek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Zarante, Ignacio, Mastroiacovo, Pierpaolo
Pubblicato in Paediatr Perinat Epidemiol (2019)

Prevalence of Esophageal Atresia among 18 International Birth Defects Surveillance Programs

di 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
Pubblicato in Birth Defects Res A Clin Mol Teratol (2012)

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

di Bell, Jane C., Baynam, Gareth, Bergman, Jorieke E. H., Bermejo-Sánchez, Eva, Botto, Lorenzo D., Canfield, Mark A., Dastgiri, Saeed, Gatt, Miriam, Groisman, Boris, Hurtado-Villa, Paula, Kallen, Karin, Khoshnood, Babak, Konrad, Victoria, Landau, Danielle, Lopez-Camelo, Jorge S., Martinez, Laura, Morgan, Margery, Mutchinick, Osvaldo M., Nance, Amy E., Nembhard, Wendy, Pierini, Anna, Rissmann, Anke, Shan, Xiaoyi, Sipek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Yevtushok, Lyubov S., Zarante, Ignacio, Nassar, Natasha
Pubblicato in Birth Defects Res (2021)

Prevalence and Mortality among Children with Congenital Diaphragmatic Hernia: A Multi-Country Analysis

di Politis, Maria D., Bermejo-Sánchez, Eva, Canfield, Mark A., Contiero, Paolo, Cragan, Janet D., Dastgiri, Saeed, de Walle, Hermien, Feldkamp, Marcia L., Nance, Amy, Groisman, Boris, Gatt, Miriam, Benavides-Lara, Adriana, Hurtado-Villa, Paula, Kallén, Kärin, Landau, Danielle, Nathalie Lelong, Lopez-Camelo, Jorge, Martinez, Laura, Morgan, Margery, Mutchinick, Osvaldo M., Pierini, Anna, Rissmann, Anke, Šípek, Antonin, Szabova, Elena, Wertelecki, Wladimir, Zarante, Ignacio, Bakker, Marian K., Kancherla, Vijaya, Mastroiacovo, Pierpaolo, Nembhard, Wendy N.
Pubblicato in Ann Epidemiol (2020)

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

di Yu, Xiao, Nassar, Natasha, Mastroiacovo, Pierpaolo, Canfield, Mark, Groisman, Boris, Bermejo-Sánchez, Eva, Ritvanen, Annukka, Kiuru-Kuhlefelt, Sonja, Benavides, Adriana, Sipek, Antonin, Pierini, Anna, Bianchi, Fabrizio, Källén, Karin, Gatt, Miriam, Morgan, Margery, Tucker, David, Canessa, M. Aaurora, Gajardo, Rosa, Mutchinick, Osvaldo M., Szabova, Elena, Csáky-Szunyogh, Melinda, Tagliabue, Giovanna, Cragan, Janet D., Nembhard, Wendy N., Rissmann, Anke, Goetz, Dorit, Bower, Carol, Baynam, Gareth, Lowry, R. Brian, Leon, Juan A., Luo, Wei, Rouleau, Jocelyn, Zarante, Ignacio, Fernandez, Nicolas, Amar, Emmanuelle, Dastgiri, Saeed, Contiero, Paolo, Martínez-de-Villarreal, Laura E., Borman, Barry, Bergman, J.E.H., de Walle, Hermien E.K., Hobbs, Charlotte A., Nance, Amy E., Agopian, A.J.
Pubblicato in Eur Urol (2019)