Search Results - "Arteaga, Jazmin"

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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Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico by Blazer, Kathleen R, Chavarri-Guerra, Yanin, Villarreal Garza, Cynthia, Nehoray, Bita, Mohar, Alejandro, Daneri-Navarro, Adrian, Del Toro, Azucena, Aguilar, Dione, Arteaga, Jazmin, Álvarez, Rosa Maria, Mejia, Rosa, Herzog, Josef, Castillo, Danielle, Fernandez, Maria, Weitzel, Jeffrey N

“…Genomic cancer risk assessment (GCRA) is standard-of-care practice that uses genomic tools to identify individuals with increased cancer risk, enabling…”
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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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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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Germline pathogenic variants among Mexican patients with adenocarcinoma of the pancreas by Rodriguez Olivares, Jose Luis, Chavarri Guerra, Yanin, Arteaga, Jazmin, De la Mora Molina, Hector, Rodríguez-Faure, Andrés, Hernández, Ana María, Castillo, Danielle, Weitzel, Jeffrey N.

“…Abstract only 540 Background: The reported frequency of germline pathogenic variants (PVs) in patients with pancreatic cancer is 8-10%. Depending on the…”
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A randomized controlled trial evaluating pretest cancer genetics educational video or in-person genetic counseling by Chavarri Guerra, Yanin, Morales Alfaro, Andrea, Alcacio Vzquez, Cesar, Carrillo Bedoya, Araceli, Arteaga, Jazmin, Peñafort Zamora, Jose Carlos, Sánchez-Román, Sofía, Ramirez Maza, Daniela, Villarreal-Garza, Cynthia, Reynoso, Nancy, Mohar, Alejandro, Calva Mercado, Juan Jose

“…10597 Background: Cancer genetic testing indications are rapidly expanding to determine treatment eligibility for patients with cancer, to identify individual…”
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Prospective prevalence estimation of BRCA1, BRCA2, and other germline mutations associated with hereditary pancreatic cancer (HPC) using a comprehensive gene panel in an unselected cohort of Mexican patients with pancreatic ductal adenocarcinoma (PDAC) by Rosas Camargo, Vanessa, Arteaga, Jazmin, Melchor Ruan, Javier, Escorza, Salvador, Cedro-Tanda, Alberto, Vidal, Silvia, Torres Valdiviezo, Lucero Itzel, Cisneros Cordero, Miriam Heidi, Arce Sandoval, Cesar, Meneses Medina, Mónica Isabel, Herrera, Marytere, Huitzil Melendez, Fidel David David

“…10609 Background: Prevalence of pathogenic or likely pathogenic germline variants (PGVs) in patients with PDAC varies across populations. There is limited…”
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Pathogenic variants among Mexican patients with colorectal cancer referred for genetic cancer risk assessment by Rodriguez Olivares, Jose Luis, Chavarri Guerra, Yanin, Arteaga, Jazmin, De la Mora Molina, Hector, Soto Perez De Celis, Enrique, Candanedo Gonzalez, Fernando, Rivero García, Pamela, Castillo, Danielle, Weitzel, Jeffrey N.

“…Abstract only 69 Background: Lynch syndrome (LS) is the most frequent hereditary cancer syndrome among patients with colorectal cancer. Screening tests such as…”
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Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism by Lam-Chung, César Ernesto, Rodríguez, Larissa López, Kato, Yayoi Segura, Jiménez González, Iván Josué, Mena-Hernández, Lourdes, Rivera-Juárez, Renata, Almeda-Valdes, Paloma, Vázquez, Jazmín Arteaga

“…The presence of primary hyperparathyroidism (PHPT) and Klinefelter syndrome (KS) is rare, and its association with KS mosaicism is even rarer. We report an…”
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Communication of genetic testing results and cascade testing among Mexican carriers of cancer-associated variants and their families by Chavarri Guerra, Yanin, Rodríguez-Faure, Andrés, Bolano Guerra, Laura Margarita, Rodriguez Olivares, Jose Luis, Arteaga, Jazmin, Castillo, Danielle, Mejia, Rosa, Herzog, Josef, Blazer, Kathleen Reilly, Weitzel, Jeffrey N.

“…Abstract only e13541 Background: Most hereditary cancer syndromes exhibit autosomal dominant inheritance. Therefore, communicating results to family members…”
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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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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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