Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marta Santamariña Pena"'
Autor:
Ana Vega, Orland Diez, Alejandro Moles-Fernández, Xavier de la Cruz, Gabriel Capellá, Luz-Marina Porras, Miguel de la Hoya, Sara Gutiérrez-Enríquez, Daniel Rueda, Conxi Lázaro, Anael López-Novo, Clara Ruiz-Ponte, Marta Pineda, Ana Blanco, Ignacio J. Molina, Lídia Feliubadaló, Ana Osorio, Marta Santamariña-Pena, Alysson T Sánchez
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)
Universidad de Barcelona
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)
Background Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c98f2fa6e9707918a8c22c3ad22c0a
https://pubmed.ncbi.nlm.nih.gov/33280026
https://pubmed.ncbi.nlm.nih.gov/33280026
Autor:
Amanda B. Spurdle, Paolo Peterlongo, Ana Vega, Thomas van Overeem Hansen, Siranoush Manoukian, Maria A. Caligo, Melissa A. Brown, Philip J. Whiley, Brooke L. Brewster, Paolo Radice, Leslie Burke, Emma Tudini, Jan Sevcik, Marta Santamariña Pena, Etienne Rouleau, Gaetana Gambino
Publikováno v:
Cancer Research. 76:1859-1859
Many germline DNA sequence variants in gene regulatory elements are associated with an increased risk of cancer. These include large genomic deletions of the promoter of the BRCA1 gene, through to single nucleotide variants in the promoter, UTRs and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e967f3b33dcf4355f5ba4d514a2df74
https://doi.org/10.1158/1538-7445.am2016-1859
https://doi.org/10.1158/1538-7445.am2016-1859
Autor:
Ana Vega Gliemmo, Marta Santamariña Pena, Francisco Martínez, Enrique Gutierrez González, Jaime Toribio Pérez, Julio Alonso González, María Teresa Rodríguez Granados
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Servizo Galego de Saúde (SERGAS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86eb013c9bb1401f952130cb6d0ce9ee
https://doi.org/10.1016/j.jaad.2012.12.758
https://doi.org/10.1016/j.jaad.2012.12.758