Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Carmen Aláez-Verson"'
Autor:
Leonel Tadao Takada, Carmen Aláez-Verson, Bhagyashri D. Burgute, Ricardo Nitrini, Ana Luisa Sosa, Raphael Machado Castilhos, Marcia Fagundes Chaves, Erika-Mariana Longoria, Karol Carrillo-Sánchez, Sonia Maria Dozzi Brucki, Luis Leonardo Flores-Lagunes, Carolina Molina, Marcos Jimenez Olivares, Ellen Ziegemeier, Jennifer Petranek, Alison M. Goate, Carlos Cruchaga, Alan E. Renton, Maria Victoria Fernández, Gregory S. Day, Eric McDade, Randall J. Bateman, Celeste M. Karch, Jorge J. Llibre-Guerra, for the Dominantly Inherited Alzheimer Network
Publikováno v:
Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background In fewer than 1% of patients, AD is caused by autosomal dominant mutations in either the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) genes. The full extent of familial AD and frequency of these v
Externí odkaz:
https://doaj.org/article/4483cf66fc1f417ca9004e7360b9c733
Autor:
Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Miguel Angel Alcántara-Ortigoza, Carmen Aláez-Verson, Luis L. Flores-Lagunes, Karol Carrillo-Sánchez, Ariadna González-del Angel
Publikováno v:
Diagnostics, Vol 12, Iss 5, p 1268 (2022)
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotr
Externí odkaz:
https://doaj.org/article/011ebabe127c49e6a17c1ce9cfbc0fe9
Autor:
Angélica Martínez-Hernández, Elvia C. Mendoza-Caamal, Namibia G. Mendiola-Vidal, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Juan Luis Jiménez-Ruiz, Tulia Monge-Cazares, Humberto García-Ortiz, Cecilia Contreras- Cubas, Federico Centeno-Cruz, Carmen Alaez-Verson, Soraya Ortega-Torres, Adriana del C. Luna-Castañeda, Vicente Baca, José Luis Lezana, Lorena Orozco
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28984- (2024)
Background: Molecular diagnosis of cystic fibrosis (CF) is challenging in Mexico due to the population's high genetic heterogeneity. To date, 46 pathogenic variants (PVs) have been reported, yielding a detection rate of 77%. We updated the spectrum a
Externí odkaz:
https://doaj.org/article/ce4c8142ceb54ebeaeeec00442c786a9
Autor:
Joaquin Garcia-Solorio, Juan Carlos Núñez-Enriquez, Marco Jiménez-Olivares, Janet Flores-Lujano, Fernanda Flores-Espino, Carolina Molina-Garay, Alejandra Cervera, Diana Casique-Aguirre, José Gabriel Peñaloza-Gonzalez, Ma. Del Rocío Baños-Lara, Ángel García-Soto, César Alejandro Galván-Díaz, Alberto Olaya-Vargas, Hilario Flores Aguilar, Minerva Mata-Rocha, Miguel Ángel Garrido-Hernández, Juan Carlos Solís-Poblano, Nuria Citlalli Luna-Silva, Lena Sarahi Cano-Cuapio, Pierre Mitchel Aristil-Chery, Fernando Herrera-Quezada, Karol Carrillo-Sanchez, Anallely Muñoz-Rivas, Luis Leonardo Flores-Lagunes, Elvia Cristina Mendoza-Caamal, Beatriz Eugenia Villegas-Torres, Vincent González-Osnaya, Elva Jiménez-Hernández, José Refugio Torres-Nava, Jorge Alfonso Martín-Trejo, María de Lourdes Gutiérrez-Rivera, Rosa Martha Espinosa-Elizondo, Laura Elizabeth Merino-Pasaye, María Luisa Pérez-Saldívar, Silvia Jiménez-Morales, Everardo Curiel-Quesada, Haydeé Rosas-Vargas, Juan Manuel Mejía-Arangure, Carmen Alaez-Verson
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
BackgroundRecurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some are useful for refining classification, prognosis, and treatment selection. IKZF1plus is a
Externí odkaz:
https://doaj.org/article/957fbd226ef74958b32478db98abf26c
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
Autor:
Ekaterina Kazakova, José Alberto Téllez-Martínez, Leonardo Flores-Lagunes, Ana Luisa Sosa-Ortiz, Karol Carillo-Sánchez, Carolina Molina-Garay, Carlos Alberto González-Domínguez, Marco Jimenez-Olivares, Francisca Fernandez-Valverde, Edwin Steven Vargas-Cañas, Martha Elisa Vázquez-Memije, Ethel Awilda Garcia-Latorre, Iván Martínez-Duncker, Carmen Alaez-Verson
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
ObjectivesTo report the first Mexican case with two novel AARS2 mutations causing primary ovarian failure, uterus infantilis, and early-onset dementia secondary to leukoencephalopathy.MethodsDetailed clinical, clinimetric, neuroimaging features, musc
Externí odkaz:
https://doaj.org/article/b02bf00be7fb4cff8b05a4456c936262
Autor:
Martín Barbosa-Amezcua, Betzaida Cuevas-Córdoba, Cristóbal Fresno, Joshua I. Haase-Hernández, Karol Carrillo-Sánchez, Minerva Mata-Rocha, Marcela Muñoz-Torrico, Claudia Bäcker, Vanessa González-Covarrubias, Carmen Alaez-Verson, Xavier Soberón
Publikováno v:
Microbiology Spectrum, Vol 10, Iss 5 (2022)
ABSTRACT Tuberculosis (TB) remains one of the most important infectious diseases globally. Establishing a resistance profile from the initial TB diagnosis is a priority. Rapid molecular tests evaluate only the most common genetic variants responsible
Externí odkaz:
https://doaj.org/article/cd1b29f3e7e7445997c43f3be9ac01c3
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/16f9a7c36b8c4e668090bb6fa6040a84
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in ALG1, the encoding gene for the chitobiosy
Externí odkaz:
https://doaj.org/article/31a570422e514fc1967b53252d47ed25
Autor:
Norma Hernández-Pedro, Giovanny Soca-Chafre, Carmen Alaez-Versón, Karol Carrillo-Sánchez, Alejandro Avilés-Salas, Edgar Vergara, Oscar Arrieta
Publikováno v:
Salud Pública de México, Vol 61, Iss 3, may-jun, Pp 308-317 (2019)
Objective. Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed detection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with non-small ce
Externí odkaz:
https://doaj.org/article/f9ef136ee8e840dc97ae189c27a0c600