Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Emiy Yokoyama"'
Autor:
Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a m
Externí odkaz:
https://doaj.org/article/c847b296c71c481ba9d3a93f5e694b3a
Autor:
Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria Del Castillo, Leda Torres, Sara Frias
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-14 (2023)
Abstract Background The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genom
Externí odkaz:
https://doaj.org/article/3fe29b7a3db3478995305270a2073d94
Autor:
Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina, Sara Frias
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
Abstract Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent wh
Externí odkaz:
https://doaj.org/article/7eee9280a0c74043b0f443ab5f12114a
Autor:
Daniel Adrian Landero-Huerta, Rosa María Vigueras-Villaseñor, Emiy Yokoyama-Rebollar, Fabiola García-Andrade, Julio César Rojas-Castañeda, Luis Alonso Herrera-Montalvo, José Díaz-Chávez, Isidro Xavier Pérez-Añorve, Elena Aréchaga-Ocampo, Margarita Dolores Chávez-Saldaña
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Allelic variants in genes implicated in the development of testicular germ cell tumor (TGCT) could be present in patients with cryptorchidism (CO). Currently; the mechanisms explaining this relationship are still unknown. In this study the common cli
Externí odkaz:
https://doaj.org/article/09297e19c01b47c88341378f69000897
Autor:
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400–500-band karyotyping is the first-line ch
Externí odkaz:
https://doaj.org/article/633deac9ac8f412eb0eb452668a05e78
Autor:
Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo, Sara Frías
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-9 (2017)
Abstract Background Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13
Externí odkaz:
https://doaj.org/article/32e8ec9c0aa749b6a50963f1873bb5ab
Publikováno v:
Acta Pediátrica de México, Vol 38, Iss 6, Pp 433-441 (2017)
La discapacidad intelectual (DI) o retraso mental tiene una prevalencia del 2-3% en la población general y se define como una alteración del neurodesarrollo que inicia antes de los 18 años. Se caracteriza por limitación importante en el funcionam
Externí odkaz:
https://doaj.org/article/57feefeb5a434ec8b238558f382d534c
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:
Eduardo Carrillo-Tapia, Sara E. Espinosa-Padilla, Daniela Perez-Perez, Maria E. Gonzalez-Serrano, Laura Berron-Ruiz, Francisco J. Espinosa-Rosales, Juan C. Rodriguez-Alba, Fabiola Mújica-Guzman, Emiy Yokoyama-Rebollar, Jose R. García-Flores, Norma E. Herrera-González, Selma Scheffler-Mendoza, Marco A. Yamazaki-Nakashimada, A. Tamara Staines-Boone, Gabriela Lopez-Herrera
Publikováno v:
Genetic testing and molecular biomarkers. 26(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975ffdcae63f662239334d5ad15e442b
https://pubmed.ncbi.nlm.nih.gov/35394812
https://pubmed.ncbi.nlm.nih.gov/35394812
Autor:
Roberto Cruz-Alcívar, P. Navarrete-Meneses, A. Reyes-León, A. González-Del Angel, V. Ulloa-Avilés, Patricia Pérez-Vera, A. I. Pedraza-Meléndez, A. González-Orsuna, S. Gómez-Carmona, Consuelo Salas-Labadía, David E. Cervantes-Barragán, Emiy Yokoyama-Rebollar, Esther Lieberman-Hernández, Adriana Ruiz-Herrera, Carola Durán-McKinster, D. Martínez-Anaya, V. Del Castillo-Ruiz, D. Suárez-Pérez, C. Villarroel-Cortés
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to establish a complete cytogenetic and molecular characterization of PM patients, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad97d1e0b6016f81af280efa02d09cc
http://link.springer.com/article/10.1186/s13023-019-1208-0
http://link.springer.com/article/10.1186/s13023-019-1208-0