Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Sara Frias"'
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:
Rosalba Sevilla-Montoya, Maria de Jesus Zavaleta-Abreu, Gloria Queipo, Silvia Sanchez, Sara Frias, Alberto Hidalgo-Bravo, Patricia Grether-González
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 3, Pp 526-529 (2021)
Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by diffe
Externí odkaz:
https://doaj.org/article/7ab9f009ebb34de08dce2cfc1b968425
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
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0242218 (2020)
Improvements in survival rates with gonad-sparing protocols for childhood and adolescence cancer have increased the optimism of survivors to become parents after treatment. Findings in rodents indicate that chromosomal aberrations can be induced in m
Externí odkaz:
https://doaj.org/article/cc5708a860284f2c880c6976d7ac63af
Autor:
Pedro Reyes, Benilde García-de Teresa, Ulises Juárez, Fernando Pérez-Villatoro, Moisés O. Fiesco-Roa, Alfredo Rodríguez, Bertha Molina, María Teresa Villarreal-Molina, Jorge Meléndez-Zajgla, Alessandra Carnevale, Leda Torres, Sara Frias
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 4, p 2334 (2022)
Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway to maintain genome stability. PV in FANCA, FANCC, and FANCG account for most
Externí odkaz:
https://doaj.org/article/32307e9d5e2741bcaeadfb0477d11591
Autor:
Benilde García‐de Teresa, Sara Frias, Bertha Molina, María Teresa Villarreal, Alfredo Rodriguez, Alessandra Carnevale, Gerardo López‐Hernández, Lilia Vollbrechtshausen, Alberto Olaya‐Vargas, Leda Torres
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background Fanconi anemia (FA) (OMIM #227650) is a rare hereditary disease characterized by genomic instability. The clinical phenotype involves malformations, bone marrow failure, and cancer predisposition. Genetic heterogeneity is a remark
Externí odkaz:
https://doaj.org/article/46ea93e8662542388c92df49b79162f5
Publikováno v:
Genomics Data, Vol 9, Iss C, Pp 70-77 (2016)
There is no information regarding the role of microRNAs in the development of the external ear in mammals. The purpose of this study was to determine the stage-specific expression of microRNA during external ear development in mice under normal condi
Externí odkaz:
https://doaj.org/article/b251348fb351463cbc873f2d06eba90a
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 21, p 5251 (2019)
Variation in the location of the 15p region D15Z1 is recognized as a polymorphism in several human populations. We used high-stringency Fluorescence In Situ Hybridization (FISH) to detect D15Z1 in a Mexican cohort. Here, we report the presence of ext
Externí odkaz:
https://doaj.org/article/6ed166d5297c438bbbb87ef3946b3273
Autor:
Alan D. D'Andrea, Sara Frias, Sampsa Hautaniemi, Peter K. Sorger, Peter J. Park, Lisa A. Moreau, Connor S. Clairmont, Jia Zhou, Jean-Bernard Lazaro, Fernando Pérez-Villatoro, Caitlin E. Mills, Sandra Ramos, Julieta Domínguez, Huy Nguyen, Doga C. Gulhan, Jaana Oikkonen, Alfredo Rodríguez, Anniina Färkkilä
Supplementary Table 1 showing reagents and antibodies used in the study.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87061b7bd6e456e02a9cc0edfef3f0f2
https://doi.org/10.1158/0008-5472.22427539.v1
https://doi.org/10.1158/0008-5472.22427539.v1
Autor:
Alan D. D'Andrea, Sara Frias, Sampsa Hautaniemi, Peter K. Sorger, Peter J. Park, Lisa A. Moreau, Connor S. Clairmont, Jia Zhou, Jean-Bernard Lazaro, Fernando Pérez-Villatoro, Caitlin E. Mills, Sandra Ramos, Julieta Domínguez, Huy Nguyen, Doga C. Gulhan, Jaana Oikkonen, Alfredo Rodríguez, Anniina Färkkilä
Homologous recombination (HR)-deficient cancers are sensitive to poly-ADP ribose polymerase inhibitors (PARPi), which have shown clinical efficacy in the treatment of high-grade serous cancers (HGSC). However, the majority of patients will relapse, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b3b1c429522be4a8ce378533524cbec
https://doi.org/10.1158/0008-5472.c.6512719.v1
https://doi.org/10.1158/0008-5472.c.6512719.v1