Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Christian, Peña Padilla"'
Autor:
Elizabeth Acosta-Fernández, Jorge R. Corona-Rivera, Izabel M. Ríos-Flores, Elizabeth Torres-Anguiano, Alfredo Corona-Rivera, Christian Peña-Padilla, Lucina Bobadilla-Morales
Publikováno v:
Gaceta Médica de México, Vol 158, Iss 4 (2022)
Introducción: Las alteraciones epigenéticas y genómicas de la región improntada 11p15.5 producen crecimiento excesivo o deficiente, que se manifiesta como síndrome de Beckwith-Wiedemann o síndrome de Silver-Russell, respectivamente. Objetivo: E
Externí odkaz:
https://doaj.org/article/ea1a1616d60843078d577d510bd773fb
Autor:
Jorge Corona-Rivera, Christian Peña-Padilla, Guadalupe Elena Morales-Domínguez, Yaneris Maibeth Romero-Bolaño
Publikováno v:
Revista Alergia México, Vol 69, Iss 1 (2022)
El asma es una patología etiológicamente heterogénea resultante de una compleja interacción entre una susceptibilidad genética, factores del huésped y exposiciones ambientales. En el presente trabajo se revisan los aspectos genéticos implicado
Externí odkaz:
https://doaj.org/article/b4ac30cabf2449fb8ad9b9b6b82741dc
Autor:
Gerardo E. Fabián-Morales, Lucina Bobadilla-Morales, Christian Peña-Padilla, Rafael Nieto-García, Pascuala B. Rivera-Ramírez, Alfredo Corona-Rivera, Aurea Márquez-Mora, Graciela Macías-Salcedo, Idalid Cuero-Quezada, Jorge R. Corona-Rivera
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 79, Iss 6 (2022)
Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has
Externí odkaz:
https://doaj.org/article/dfc31b69b4044c08b4a126ab9777b5ef
Autor:
Jorge Román Corona-Rivera, Juan Carlos Zenteno, Leopoldo Gildardo López-Pérez, Emiy Yokoyama-Rebollar, Camilo E. Villarroel, Tania Barragán-Arévalo, Luis Ángel Montes-Almanza, Luz Consuelo Zepeda-Romero, Guadalupe Elena Morales-Domínguez, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera
Publikováno v:
Molecular Syndromology. 14:143-151
Introduction: PACS1-related neurodevelopmental disorder (PACS1-related NDD) is caused by pathogenic variants in the PACS1 gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2018172286f286a15a4d0c3e5434d33
https://doi.org/10.1159/000526975
https://doi.org/10.1159/000526975
Autor:
Jorge Román Corona‐Rivera, Felipe de Jesús Bustos Rodríguez, Laura Leticia Vega‐Silva, Fernando Hernández‐Camarena, Christian Peña‐Padilla, Katia Alejandra Castillo‐Reyes, Jessica Paola Cruz‐Cruz, Lucina Bobadilla‐Morales, Alfredo Corona‐Rivera
Publikováno v:
American Journal of Medical Genetics Part A. 191:1669-1671
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f66f21d3bdca3b12924123de8cb2c77
https://doi.org/10.1002/ajmg.a.63183
https://doi.org/10.1002/ajmg.a.63183
Autor:
Jehú, Rivera-Vargas, Andrea, Superti-Furga, Luisa, Bonafé, Christian, Peña-Padilla, Rocío Carolina, Cortés-Pastrana, Lucina, Bobadilla-Morales, Alfredo, Corona-Rivera, Jorge Román, Corona-Rivera
Publikováno v:
Clinical Dysmorphology. 32:14-17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::241b348c3942dea99f6ef5707187847a
https://doi.org/10.1097/mcd.0000000000000432
https://doi.org/10.1097/mcd.0000000000000432
Autor:
Elizabeth, Acosta-Fernández, Jorge R, Corona-Rivera, Izabel M, Ríos-Flores, Elizabeth, Torres-Anguiano, Alfredo, Corona-Rivera, Christian, Peña-Padilla, Lucina, Bobadilla-Morales
Publikováno v:
Gaceta de M�xico. 158
Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively.To evaluate the methylation-specific multiplex l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daab1be99ee9aa1feb8bee80c864ea25
https://doi.org/10.24875/gmm.m22000673
https://doi.org/10.24875/gmm.m22000673
Autor:
Christian Peña-Padilla, Jorge Román Corona-Rivera, Idalid Cuero-Quezada, Yaneris M. Romero-Bolaño, Jennifer Santana-Hernández, Alfredo Corona-Rivera, Alejandra Baldomero-López, Lucina Bobadilla-Morales, Cristian Irela Aranda-Sánchez
Publikováno v:
Congenital Anomalies. 61:188-192
Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48fc4751e1d40946d7f4c1a2feb1c12c
https://doi.org/10.1111/cga.12429
https://doi.org/10.1111/cga.12429
Autor:
Adolfo Ruiz-Gómez, Alfredo Corona-Rivera, Christian Peña-Padilla, Sandra Olvera-Molina, Jorge Román Corona-Rivera, J. Jesús Pérez-Molina, Cristian Irela Aranda-Sánchez, Guadalupe Elena Morales-Domínguez, Lucina Bobadilla-Morales
Publikováno v:
Congenital Anomalies. 61:46-54
We determine the prevalence and trends of open neural tube defects (ONTDs) during 1991 to 2019 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Mexico). Also, details of potential risks were obtained in 662 newborns, including those 143 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1a2ea850c3290309758e5162d3411b
https://doi.org/10.1111/cga.12399
https://doi.org/10.1111/cga.12399
Autor:
Mireya Orozco-Vela, Jorge Román Corona-Rivera, Christian Peña-Padilla, Aurea Márquez-Mora, Rosa Margarita Cruz-Osorio, Alejandra Baldomero-López, Alfredo Corona-Rivera, Lucero Mendoza-Maldonado, Lucina Bobadilla-Morales, César Cenobio Barba-Barba
Publikováno v:
American Journal of Medical Genetics Part A. 182:2085-2093
Transient abnormal myelopoiesis (TAM) raises the risk for acute myeloid leukemia of Down syndrome (DS) (ML-DS), and both are related to GATA1 pathogenic variants. Here, we analyzed which findings on complete blood count (CBC) are associated with TAM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4512285ce4ad053e38a49e5dafde8f60
https://doi.org/10.1002/ajmg.a.61748
https://doi.org/10.1002/ajmg.a.61748