Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Carles Garcia-Linares"'
Autor:
Carles Garcia-Linares, Jaume Mercadé, Bernat Gel, Josep Biayna, Ernest Terribas, Conxi Lázaro, Eduard Serra
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42682 (2012)
The study of somatic genetic alterations in tumors contributes to the understanding and management of cancer. Genetic alterations, such us copy number or copy neutral changes, generate allelic imbalances (AIs) that can be determined using polymorphic
Externí odkaz:
https://doaj.org/article/38bcf7ebcb19489aa1db3e1bd58a5a13
Autor:
Claudia Vasallo, Frédéric Haziza, Gemma Milla, Daniel Barrowdale, Manuel Rueda, Roberto Ariosa, Jordi Rambla, Carles Garcia-Linares, Silvia Bahena, Emilio Garcia-Rios, Babita Singh, Coline Thomas, Anand Mohan, Mallory A. Freeberg, Teresa D’Altri, Helen Parkinson, Aravind Sankar, Sabela de la Torre, Arcadi Navarro, Ashutosh Shimpi, Mauricio Moldes, Umuthan Uyan, Paul Flicek, Oscar Martinez Llobet, Bela Juhasz, Giselle Kerry, Dona Shaju, Marcos Casado Barbero, Dietmar Fernandez-Orth, Aina Jene, Lauren A Fromont, Roderic Guigó, Jorge Izquierdo Ciges, Thomas M. Keane, Anna Foix Romero
Publikováno v:
Nucleic Acids Research
The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical research projects. Its mission
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a9c48ae4c3d97e79556278e23735e1
http://europepmc.org/articles/PMC8728218
http://europepmc.org/articles/PMC8728218
Publikováno v:
Clinical Chemistry. 59:928-937
BACKGROUND About 5% of patients with neurofibromatosis type 1 (NF1) bear constitutional microdeletions that encompass NF1 (neurofibromin 1) and neighboring genes. These patients are characterized by the development of a high number of dermal neurofib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e3b7eafd2a116f21c3f3a9a3ae09b6b
https://doi.org/10.1373/clinchem.2012.194217
https://doi.org/10.1373/clinchem.2012.194217
Autor:
Ludwine Messiaen, Conxi Lázaro, Eduard Serra, Chuanhua Fu, Kathrin Bengesser, Fady M. Mikhail, Hildegard Kehrer-Sawatzki, Carles Garcia-Linares, Julia Vogt, David Neil Cooper
Publikováno v:
Human Mutation. 32:213-219
Mosaicism is an important feature of type-1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using FISH and MLPA to screen 3500 NF1 patients, we identified 146 individuals harboring gross NF1 d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb042369b128ffb13a69a2298a736cc4
https://doi.org/10.1002/humu.21418
https://doi.org/10.1002/humu.21418
Autor:
Yolanda Benavente, Jaume Mercadé, Ignacio Blanco, Conxi Lázaro, Anna Ravella, Eva Pros, Eduard Serra, Hildegard Kehrer-Sawatzki, Llúcia Benito, Ernest Terribas, Carles Garcia-Linares, Gabriel Capellá, Juana Fernández-Rodríguez
Publikováno v:
Human Mutation
Dermal neurofibromas (dNFs) are benign tumors of the peripheral nervous system typically associated with Neurofibromatosis type 1 (NF1) patients. Genes controlling the integrity of the DNA are likely to influence the number of neurofibromas developed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8735819738d71769d14646543751fb0
https://doi.org/10.1002/humu.21387
https://doi.org/10.1002/humu.21387
Autor:
Bernat Gel, Josep Biayna, Conxi Lázaro, Jaume Mercadé, Carles Garcia-Linares, Ernest Terribas, Eduard Serra
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42682 (2012)
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE
Recercat. Dipósit de la Recerca de Catalunya
instname
The study of somatic genetic alterations in tumors contributes to the understanding and management of cancer. Genetic alterations, such us copy number or copy neutral changes, generate allelic imbalances (AIs) that can be determined using polymorphic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a9f3a7d27a7773b5a9fa10021a15b9c
http://europepmc.org/articles/PMC3419736?pdf=render
http://europepmc.org/articles/PMC3419736?pdf=render