Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maria Fernanda Silva-Lara"'
Autor:
Hardip R. Patel, Maria Fernanda Silva-Lara, Angad S. Johar, Juan-Manuel Anaya, Juan Camilo Sarmiento-Monroy, Klaus-Martin Schulte, Adriana Rojas-Villarraga, Claudio A. Mastronardi, Mauricio Arcos-Burgos, Rubén D. Mantilla, Jorge I. Vélez
Publikováno v:
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Objectives Familial autoimmunity and polyautoimmunity represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity. Whole exome sequencing (WES) and linkage analysis are well suited for this purpose due to it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c2a4effc61e7018cf87e0e42799276
https://pubmed.ncbi.nlm.nih.gov/27209085
https://pubmed.ncbi.nlm.nih.gov/27209085
Autor:
Juan-Manuel Anaya, Gavin A. Huttley, Jorge I. Vélez, Aaron Chuah, Claudio A. Mastronardi, Maria Fernanda Silva-Lara, Mauricio Arcos-Burgos, Stephanie Palmer, Dan Andrews, Kaiman Peng, Angela Higgins, Matthew A. Field, Angad S. Johar, Peter J. Milburn, Hardip R. Patel, Christopher C. Goodnow, Adriana Rojas-Villarraga
Publikováno v:
Journal of Translational Medicine
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Background Multiple autoimmune syndrome (MAS), an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of these conditions. Whole exome sequencing (WES) is a widely used strategy for detection of protein c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417d2f771c6d7958f095c807820df016
https://doi.org/10.1186/s12967-015-0525-x
https://doi.org/10.1186/s12967-015-0525-x
Autor:
Juan-Manuel Anaya, Claudio A. Mastronardi, Juan Camilo Sarmiento-Monroy, Maria Fernanda Silva-Lara, Mauricio Arcos-Burgos, R.D. Mantilla, Hardip R. Patel, Angad S. Johar, Adriana Rojas-Villarraga
Publikováno v:
Annals of the Rheumatic Diseases. 75:669.1-669
Background Polyautoimmunity (i.e., the presence of two or more autoimmune diseases in a single patient) and familial autoimmunity (i.e., diverse autoimmune diseases in a nuclear family) represent extreme phenotypes ideal for identifying major genomic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01694b15dbcde95759841369ccda5087
https://doi.org/10.1136/annrheumdis-2016-eular.2163
https://doi.org/10.1136/annrheumdis-2016-eular.2163