Search Results - "Vazquez, Jazmin Arteaga"

Prevalence of esophageal atresia among 18 international birth defects surveillance programs by 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

“…BACKGROUND: The prevalence of esophageal atresia (EA) has been shown to vary across different geographical settings. Investigation of geographical differences…”
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A multi‐country study of prevalence and early childhood mortality among children with omphalocele by Nembhard, Wendy N., Bergman, Jorieke E. H., Politis, Maria D., Arteaga‐Vázquez, Jazmín, Bermejo‐Sánchez, Eva, Canfield, Mark A., Cragan, Janet D., Dastgiri, Saeed, Walle, Hermien E. K., Feldkamp, Marcia L., Nance, Amy, Gatt, Miriam, Groisman, Boris, Hurtado‐Villa, Paula, Kallén, Kärin, Landau, Danielle, Lelong, Nathalie, Lopez‐Camelo, Jorge, Martinez, Laura, Morgan, Margery, Pierini, Anna, Rissmann, Anke, Šípek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Zarante, Ignacio, Bakker, Marian K., Kancherla, Vijaya, Mastroiacovo, Pierpaolo

“…Background Omphalocele is the second most common abdominal birth defect and often occurs with other structural and genetic defects. The objective of this study…”
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Analysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000–2014 multi‐country registry‐based study by Gili, Juan Antonio, López‐Camelo, Jorge Santiago, Nembhard, Wendy N., Bakker, Marian, Walle, Hermien E. K., Stallings, Erin B., Kancherla, Vijaya, Contiero, Paolo, Dastgiri, Saeed, Feldkamp, Marcia L., Nance, Amy, Gatt, Miriam, Martínez, Laura, Canessa, María Aurora, Groisman, Boris, Hurtado‐Villa, Paula, Källén, Karin, Landau, Danielle, Lelong, Nathalie, Morgan, Margery, Arteaga‐Vázquez, Jazmín, Pierini, Anna, Rissmann, Anke, Sipek, Antonin, Szabova, Elena, Wertelecki, Wladimir, Zarante, Ignacio, Canfield, Mark A., Mastroiacovo, Pierpaolo

“…Background Congenital hydrocephalus (CH) comprises a heterogeneous group of birth anomalies with a wide‐ranging prevalence across geographic regions and…”
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Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review by 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.

“…Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence,…”
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Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research by Mutchinick, Osvaldo M., Luna-Muñoz, Leonora, Amar, Emmanuelle, Bakker, Marian K., Clementi, Maurizio, Cocchi, Guido, da Graça Dutra, Maria, 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

“…Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000…”
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A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma by Lam-Chung, César Ernesto, Rodríguez, Larissa López, Vázquez, Jazmín Arteaga, Chávarri-Guerra, Yanin, Arízaga-Ramírez, Rebeca, Antonio, Orlando Falcon, De Anda González, Jazmín, López-Hernández, María Aurelia, Weitzel, Jeffrey N, Castillo, Danielle, Gómez-Pérez, Francisco Javier, Cuevas-Ramos, Daniel

“…Abstract Context Inherited MYC-associated factor X (MAX) gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and/or paragangliomas (PGLs)…”
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Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors by Rodríguez-Olivares, José Luis, González-Sánchez, Héctor Raúl, Beas-Lozano, Evelyn Lilian, Arteaga-Vázquez, Jazmin, Elaine T Lam Md, Bourlon, María T

“…The Case A 47-year-old woman with a history of drug-resistant epilepsy during childhood presented to the emergency department with sudden dyspnea and chest…”
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Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study by Ortiz‐Cruz, Gabriela, Luna‐Muñoz, Leonora, Arteaga‐Vázquez, Jazmín, Mutchinick, Osvaldo M.

“…Isolated postaxial polydactyly (I‐PAP), as a single defect, is a frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of…”
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Moderate altitude as a risk factor for isolated congenital malformations. Results from a case–control multicenter–multiregional study by Ibarra‐Ibarra, Blanca Rebeca, Luna‐Muñoz, Leonora, Mutchinick, Osvaldo M., Arteaga‐Vázquez, Jazmín

“…Background Living in high‐altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500–2500 m) have been…”
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Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk by Rivero-García, Pamela, Chavarri-Guerra, Yanin, Rodríguez Olivares, José Luis, Weitzel, Jeffrey N., Herzog, Josef, Candanedo-González, Fernando, Ríos-Valencia, Javier, Mutchinick, Osvaldo M., Arteaga-Vázquez, Jazmín

“…Lynch syndrome (LS) is the most frequent cancer predisposition syndrome affecting the colon and rectum. A pathogenic variant (PV) disrupting one of the…”
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Spectrum of germline pathogenic variants among patients with cancer in Mexico by Rodriguez Olivares, Jose Luis, Bourlon De Los Rios, Maria Teresa, De la Mora Molina, Hector, Arteaga Vazquez, Jazmin, Morales Alfaro, Andrea, Carrillo Bedoya, Araceli, Quintero Beulo, Gregorio, Roberto Iván, Sánchez Reyes, Castillo, Danielle, Herzog, Josef, Weitzel, Jeffrey N., Chavarri Guerra, Yanin

“…10620 Background: Up to 10% of patients with cancer harbor pathogenic germline variants (PVs) in one or more cancer susceptibility genes. Genetic cancer risk…”
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OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program by Arteaga‐Vázquez, Jazmín, Luna‐Muñoz, Leonora, Morales‐Suárez, Juan José, Mutchinick, Osvaldo M.

“…OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has…”
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Abstract P1-15-02: An educational cancer genetics course to increase knowledge on hereditary breast cancer syndromes among physicians-in-training at a teaching hospital in Mexico City by Guerra, Yanin Chavarri, De la Mora Molina, Hector, Landinez, Rosa Elena Caballero, Salazar, Arantxa Lagunas, De la O Murillo, Andrea, Arciniega, Rafael Reyes, de Celis, Enrique Soto Perez, Olivares, Jose Luis Rodriguez, Mutchinick, Osvaldo M, Vazquez, Jazmin Arteaga

“…Abstract Background: Breast cancer incidence is increasing globally, and a significant proportion of the disease has been linked to genetic susceptibility…”
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Abstract PS8-15: The spectrum of germline susceptibility gene variants in Mexican patients with breast cancer (BC): A Prospective Multicenter study by Chavarri-Guerra, Yanin, Villarreal-Garza, Cynthia, Seymour, Gubidxa Gutierrez, Aguilar y Mendez, Dione, Arteaga-Vazquez, Jazmin, Cardona-Huerta, Servando, Daneri-Navarro, Adrian, del Toro Valero, Azucena, Mohar-Betancourt, Alejandro, Rodríguez-Faure, Andrés, Rodriguez-Olivares, Jose Luis, Beulo, Gregorio Quintero, Castillo, Danielle, Yang, Kai, Herzog, Joseph, Mejia, Rosa, Sand, Sharon, Weitzel, Jeffrey N

“…Abstract Background: BRCA mutations are responsible for a significant proportion of hereditary breast and ovarian cancers. However, other cancer susceptibility…”
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First results of universal screening for Lynch syndrome in a Mexican cohort of colorectal cancer patients by Nieto, Zuleyma, Valenzuela, Ana Karen, Huitzil Melendez, Fidel David, Meneses Medina, Mónica Isabel, Gamboa Dominguez, Armando, Camargo, Vanessa Rosas, Arteaga Vazquez, Jazmin, Pineda, Mauricio Mora

“…Abstract only 590 Background: universal screening has been proposed as an alternative to clinical criteria for detection of Lynch syndrome (LS). Results of…”
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Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families by Arteaga-Vázquez, Jazmín, López-Hernández, María A., Svyryd, Yevgeniya, Mutchinick, Osvaldo M.

“…Summary Background Androgenetic alopecia (AGA) or common baldness is the most prevalent form of hair loss in males. Familial predisposition has been…”
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Genetic Risk Determinants for Cigarette Smoking Dependence in Mexican Mestizo Families by Svyryd, Yevgeniya, Ramírez-Venegas, Alejandra, Sánchez-Hernández, Beatriz, Aguayo-Gómez, Adolfo, Luna-Muñoz, Leonora, Arteaga-Vázquez, Jazmín, Regalado-Pineda, Justino, Mutchinick, Osvaldo M.

“…Tobacco smoking is a leading cause of mortality in developed and developing countries. Despite antitobacco and smoke-free policies, the prevalence of active…”
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Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation by González-Duarte, Alejandra, Soto, Karla Cárdenas, Martínez-Baños, Deborah, Arteaga-Vazquez, Jazmin, Barrera, Fausto, Berenguer-Sanchez, Mauricio, Cantu-Brito, Carlos, García-Ramos, Guillermo, Estañol Vidal, Bruno

“…Background: The phenotypic heterogeneity of transthyretin amyloidosis (ATTR) familial polyneuropathy may be linked to the type of mutation and to the…”
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Prevalence and clinical characteristics of alpha-1 antitrypsin deficiency in liver explants in a Mexican cohort by Campos-Murguía, Alejandro, Valdéz-Hernández, Pedro, Cordova-Gallardo, Jacqueline, Arteaga-Vázquez, Jazmín, Contreras, Alan G., Vilatobá, Mario, Cruz-Martínez, Rodrigo, Martínez-Benítez, Braulio, Gamboa-Domínguez, Armando, Marfil-Garza, Braulio A., Flores-García, Nayelli C., Márquez-Guillén, Ernesto, García-Juárez, Ignacio

“…•α1 antitrypsin deficiency is an unrecognized cause of liver disease.•α1 antitrypsin deficiency was found unexpectedly in 4.5% of liver explants.•Heterozygous…”
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Identification of Copy Number Variations in Isolated Tetralogy of Fallot by Aguayo-Gómez, Adolfo, Arteaga-Vázquez, Jazmín, Svyryd, Yevgeniya, Calderón-Colmenero, Juan, Zamora-González, Carlos, Vargas-Alarcón, Gilberto, Mutchinick, Osvaldo M.

“…Tetralogy of Fallot (ToF) is one of the most common and severe congenital heart defects (CHD). Recently, unbalanced structural genomic variants or copy number…”
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