Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lisa Ximena Rodríguez Rojas"'
Autor:
Juan Pablo Arango-Ibañez, Luis Gabriel Parra-Lara, Ángela R. Zambrano, Lisa Ximena Rodríguez-Rojas
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 22, Iss 1, Pp 1-5 (2024)
Abstract Background Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene TP53. This gene codes for the P53 protein, a crucial player in genomic stability, which functions as a tumor
Externí odkaz:
https://doaj.org/article/1c1278b982704453a5ccf68ffae3a829
Autor:
Abby K. Stevens, Pawel Stankiewicz, Amy M. Breman, Aleksandar Milosavljevic, Carlos A. Bacino, Tomasz Gambin, Lindsay E. Elton, Satish Agadi, Christian P. Schaaf, Jill A. Rosenfeld, Lisa Ximena Rodríguez Rojas, Sung Hae L. Kang, David Francis, Daryl A. Scott, Michael Y. Divon, Sau Wai Cheung, James R. Lupski, Piotr Dittwald, Stephen Amato, Anna Gambin, Ankita Patel, Chad A. Shaw, Jian Li, Wilfredo Torres-Martinez, Seema R. Lalani, Przemyslaw Szafranski, Weimin Bi, Arthur L. Beaudet
Publikováno v:
Genome Research. 23:1395-1409
We delineated and analyzed directly oriented paralogous low-copy repeats (DP-LCRs) in the most recent version of the human haploid reference genome. The computationally defined DP-LCRs were cross-referenced with our chromosomal microarray analysis (C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a8a0b9a024f3e8b77e2804316b66e4
https://doi.org/10.1101/gr.152454.112
https://doi.org/10.1101/gr.152454.112
Autor:
Evelia Leal-Ugarte, Lisa Ximena Rodríguez-Rojas, Nelly Margarita Macías-Gómez, André Mégarbané, Patricio Barros-Núñez
Publikováno v:
American Journal of Medical Genetics Part A. :190-192
The osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::661cee936aa4243b65df025841cda32e
https://doi.org/10.1002/ajmg.a.30149
https://doi.org/10.1002/ajmg.a.30149
Autor:
Nelly Margarita, Macías-Gómez, André, Mégarbané, Evelia, Leal-Ugarte, Lisa Ximena, Rodríguez-Rojas, Patricio, Barros-Núñez
Publikováno v:
American journal of medical genetics. Part A. (2)
The osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6f6cf901a3ee49ccd6435bec4f810ef0
https://pubmed.ncbi.nlm.nih.gov/15316973
https://pubmed.ncbi.nlm.nih.gov/15316973