Search Results - "Arteaga, Jazmín"

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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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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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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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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Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome by Semerci, C. Nur, Cinbis, Mine, Ullmann, Reinhard, Steininger, Anne, Bahce, Muhterem, Yagci, Baki, Ozden, Serap, Sabir, Nuran, Gumus, Dilihan, Tepeli, Emre, Arteaga, Jazmín, Mutchinick, Osvaldo M.

“…We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array‐based comparative…”
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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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Diabetes, pregnancy and birth defects by Arteaga, Jazmín, Luna, Leonora, Mutchinick, Osvaldo M

“…Diabetes mellitus affects 3 to 10% of pregnant women. The reported frequency of congenital malformations (CM) in diabetic mothers is 5.5 to 10%, contributing…”
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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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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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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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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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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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Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome by Chacón-Camacho, Óscar F, Cabral-Macías, Jesús, Ayala-Ramírez, Raúl, Arteaga-Vázquez, Jazmín, Svyryd, Yevgeniya, Helmes, Karla, Pérez-Hernández, Nohemí, Mutchinick, Osvaldo M, Zenteno, Juan Carlos

“…Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics…”
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Beginner's guide to genetics: Cancer genetics by González, Adrián J, Morales, Juan J, Luna, Leonora, Arteaga, Jazmín, Mutchinick, Osvaldo M

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Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment by Arteaga-Vázquez, Jazmín, Luna-Muñoz, Leonora, Mutchinick, Osvaldo M

“…To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with…”
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