Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Jazmín Arteaga Vázquez"'
Autor:
César Ernesto Lam-Chung, MD, Larissa López Rodríguez, MD, Yayoi Segura Kato, MSc, Iván Josué Jiménez González, MD, Lourdes Mena-Hernández, MD, Renata Rivera-Juárez, Chem, Paloma Almeda-Valdes, MD, PhD, Jazmín Arteaga Vázquez, MD, PhD
Publikováno v:
AACE Clinical Case Reports, Vol 7, Iss 5, Pp 293-298 (2021)
Objective: The presence of primary hyperparathyroidism (PHPT) and Klinefelter syndrome (KS) is rare, and its association with KS mosaicism is even rarer. We report an unusual combination of these entities with a mild phenotype of KS. Methods: The pat
Externí odkaz:
https://doaj.org/article/0019eca69bfa40b6b21c8820b07576df
Autor:
Pamela Rivero-García, Yanin Chavarri-Guerra, José Luis Rodríguez Olivares, Jeffrey N. Weitzel, Josef Herzog, Fernando Candanedo-González, Javier Ríos-Valencia, Osvaldo M. Mutchinick, Jazmín Arteaga-Vázquez
Publikováno v:
Heliyon, Vol 10, Iss 11, Pp e31855- (2024)
Lynch syndrome (LS) is the most frequent cancer predisposition syndrome affecting the colon and rectum. A pathogenic variant (PV) disrupting one of the mismatch repair (MMR) genes is responsible for the disease. The spectrum of tumors in LS is hetero
Externí odkaz:
https://doaj.org/article/9a690b1e6662452aad704454048d8db8
Autor:
Yayoi Segura Kato, Lourdes Mena-Hernández, Iván Josué Jiménez González, Jazmín Arteaga Vázquez, Paloma Almeda-Valdes, Larissa López Rodríguez, César Ernesto Lam-Chung, Renata Rivera-Juárez
Publikováno v:
AACE Clinical Case Reports
AACE Clinical Case Reports, Vol 7, Iss 5, Pp 293-298 (2021)
AACE Clinical Case Reports, Vol 7, Iss 5, Pp 293-298 (2021)
Objective The presence of primary hyperparathyroidism (PHPT) and Klinefelter syndrome (KS) is rare, and its association with KS mosaicism is even rarer. We report an unusual combination of these entities with a mild phenotype of KS. Methods The patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce78902c087232ae841a31f3a439614e
http://europepmc.org/articles/PMC8426603
http://europepmc.org/articles/PMC8426603
Publikováno v:
Salud Pública de México, Vol 54, Iss 6, Pp 579-586 (2012)
OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC) en hijos de madres epilépticas (HME) tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del
Externí odkaz:
https://doaj.org/article/a274169b72e14e7da6eb7ba768196a05
Publikováno v:
Birth Defects Research. 111:666-671
OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75bfbc1087beb671b8b84b393871fe3a
https://doi.org/10.1002/bdr2.1512
https://doi.org/10.1002/bdr2.1512
Autor:
María Aurelia López-Hernández, Rebeca Arízaga-Ramírez, Francisco J. Gómez-Pérez, César Ernesto Lam-Chung, Daniel Cuevas-Ramos, Jazmín Arteaga Vázquez, Jazmín De Anda González, Larissa López Rodríguez, Orlando Falcon Antonio, Jeffrey N. Weitzel, Danielle Castillo, Yanin Chavarri-Guerra
Publikováno v:
Journal of the Endocrine Society
Context Inherited MYC-associated factor X (MAX) gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and/or paragangliomas (PGLs) in adults and children. There is little clinical experience with such mutations. Objective This rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac2b5fcfe332d35ac82f474c330a63ee
https://doi.org/10.1210/jendso/bvab085
https://doi.org/10.1210/jendso/bvab085
Autor:
Alan G. Contreras, Jacqueline Cordova-Gallardo, Ernesto Márquez-Guillén, Armando Gamboa-Domínguez, Ignacio García-Juárez, Mario Vilatobá, Alejandro Campos-Murguía, Braulio A Marfil-Garza, Rodrigo Cruz-Martínez, Jazmín Arteaga-Vázquez, Braulio Martínez-Benítez, Nayelli C Flores-García, Pedro Valdez-Hernández
Publikováno v:
Clinics and Research in Hepatology and Gastroenterology. 45:101519
Introduction Alpha-1 antitrypsin deficiency (AATD) is a risk factor for liver disease. PASD-positive inclusions have been found unexpectedly in approximately 10% of liver explants in patients with no previous diagnosis of AATD, particularly, in patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd64c696433c3e6ebbea842caaf0c39c
https://doi.org/10.1016/j.clinre.2020.07.024
https://doi.org/10.1016/j.clinre.2020.07.024
Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study
Publikováno v:
American Journal of Medical Genetics Part A.
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 the limbs. Worldwide prevalence varies from as high as 225/10,000 in Nigerians to so low as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f08c8ef2543672b94e4ac873980741
https://doi.org/10.1002/ajmg.a.61193
https://doi.org/10.1002/ajmg.a.61193
Autor:
Carlos Zamora-González, Yevgeniya Svyryd, Jazmín Arteaga-Vázquez, Osvaldo M. Mutchinick, Gilberto Vargas-Alarcón, Juan Calderón-Colmenero, Adolfo Aguayo-Gómez
Publikováno v:
Pediatric Cardiology. 36:1642-1646
Tetralogy of Fallot (ToF) is one of the most common and severe congenital heart defects (CHD). Recently, unbalanced structural genomic variants or copy number variations (CNVs) were proposed to be involved in the etiology of many complex diseases, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08171ab5f226ab0af0a6791cf487e916
https://doi.org/10.1007/s00246-015-1210-9
https://doi.org/10.1007/s00246-015-1210-9
Autor:
E.A. Pérez-González, Oscar F. Chacon-Camacho, Osvaldo M. Mutchinick, Mayela Rodríguez-Violante, Jazmín Arteaga-Vázquez, L. Pérez-Rodríguez, Juan Carlos Zenteno, Hugo Morales-Briceño, Amin Cervantes-Arriaga
Publikováno v:
Clinical Genetics. 87:259-265
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron accumulation in the brain, because of mutations in the PANK2 gene. Phenotypic and genotypic characteristics of 11 patients from five Mexi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b2ee46dd2ce9cab2656db417e72235e
https://doi.org/10.1111/cge.12400
https://doi.org/10.1111/cge.12400