Výsledky vyhledávání - "A. Muñoz-Rivas"

Akademický článek

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

Autor: C.A. González-Domínguez, C.E. Villarroel, M. Rodríguez-Morales, S. Manrique-Hernández, A. González-Jaimes, F. Olvera-Rodriguez, K. Beutelspacher, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, A. Muñoz-Rivas, M.E. Cruz-Muñoz, H.M. Mora-Montes, R. Salinas-Marín, C. Alaez-Verson, I. Martínez-Duncker

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100781- (2021)

We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed

Externí odkaz: https://doaj.org/article/c96e864f2fda4b77a39c762dbf2d0eae

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Akademický článek

Beyond the Initial Assault: Characterizing Revictimization in Intimate Partner Violence and Its Implications for Women’s Health

Autor: Marina J. Muñoz-Rivas, Román Ronzón-Tirado, Juan J. López-Ossorio, Natalia Redondo

Publikováno v: Psychosocial Intervention, Vol 33, Iss 2, Pp 65-72 (2024)

Recent research has emphasized the importance of addressing specific victim-related factors to reduce victims’ vulnerability and prevent future revictimization experiences. This study aimed to analyze the vulnerability profiles of women who were vi

Externí odkaz: https://doaj.org/article/9878ccca59374fe0908acba8d14e3ae0

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Akademický článek

Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant in PAX5. The first report in Mexico

Autor: Joaquín García-Solorio, Octavio Martínez-Villegas, Ulises Rodríguez-Corona, Carolina Molina-Garay, Marco Jiménez-Olivares, Karol Carrillo-Sanchez, Elvia C. Mendoza-Caamal, Anallely Muñoz-Rivas, Beatriz E. Villegas-Torres, Alejandra Cervera, Luis L. Flores-Lagunes, Carmen Alaez-Verson

Publikováno v: Frontiers in Oncology, Vol 14 (2024)

B-cell acute lymphoblastic leukemia (B-ALL) is one of the most common childhood cancers worldwide. Although most cases are sporadic, some familial forms, inherited as autosomal dominant traits with incomplete penetrance, have been described over the

Externí odkaz: https://doaj.org/article/351cceac3fb747fcb8beed1a2d2d5fcf

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Akademický článek

Maternal and perinatal health research during emerging and ongoing epidemic threats: a landscape analysis and expert consultation

Publikováno v: BMJ Global Health, Vol 9, Iss 3 (2024)

Introduction Pregnant women and their offspring are often at increased direct and indirect risks of adverse outcomes during epidemics and pandemics. A coordinated research response is paramount to ensure that this group is offered at least the same l

Externí odkaz: https://doaj.org/article/0707528e0fd84ebea9792ae6bcd23f04

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