Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Victoria Del Castillo"'
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:
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:
Samuel Gómez, Victoria del Castillo, Consuelo Salas, Bertha Molina, Emiy Yokoyama, Sinhué Diaz, Patricia Pérez-Vera, Camilo E. Villarroel, Sara Frías, Reneé Barreda
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
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 when the de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be08269563c8cc1a76889b5e32ffbf21
http://europepmc.org/articles/PMC7487539
http://europepmc.org/articles/PMC7487539
Autor:
Bárbara Asch, Benilde García-de Teresa, Leda Torres, Silvia Avila, María José Navarro, Emiy Yokoyama, José Luis Castrillo, Sandra Ramos, Bertha Molina, Victoria del Castillo, Sara Frías, Silvia Sánchez
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Molecular Cytogenetics
Molecular Cytogenetics
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 choice for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e65499ac996eaea953914c411718109
http://link.springer.com/article/10.1186/s13039-018-0374-4
http://link.springer.com/article/10.1186/s13039-018-0374-4
Autor:
Victoria del Castillo, Ariadna González-del Angel, Rocio Rius, Luis Enrique Mata‐García, Elaine B. Spector, Miguel Angel Alcántara-Ortigoza
Publikováno v:
American Journal of Medical Genetics Part A. 176:1225-1231
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. Only four patients with confirmed molecular diagnoses have been reported to date, and the phenotype has no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5253da16682a5595868757984dd603
https://doi.org/10.1002/ajmg.a.38660
https://doi.org/10.1002/ajmg.a.38660
Autor:
Sara Frías, Silvia Sánchez, José Luis Castrillo, Victoria del Castillo, Silvia Avila, Bertha Molina, Alfredo E. Rodriguez, Rocío Juárez, Esther Lieberman, Dennise Lesley Smith-Pellegrin, Emiy Yokoyama
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-9 (2017)
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-9 (2017)
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 gene, wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f54def6c1e0d236d0ae46408bf84db
http://europepmc.org/articles/PMC5688765
http://europepmc.org/articles/PMC5688765