Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Raquel Cuesta"'
Autor:
Paula Rofes, Álex Teulé, Lídia Feliubadaló, Mònica Salinas, Raquel Cuesta, Sílvia Iglesias, Olga Campos, Sara González, Gabriel Capellá, Joan Brunet, Jesús del Valle, Conxi Lázaro
Publikováno v:
Eur J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d579fcc01f935d054c04a38903cfcb9d
https://pubmed.ncbi.nlm.nih.gov/35102303
https://pubmed.ncbi.nlm.nih.gov/35102303
Autor:
Lídia Feliubadaló, Raquel Cuesta, José Marcos Moreno-Cabrera, Bernat Gel, Marta Pineda, Eduard Serra, Joan Brunet, Conxi Lázaro, Sara González, Gabriel Capellá, Olga Campos, Jesús del Valle
Publikováno v:
Journal of medical genetics. 59(1)
IntroductionGermline CNVs are important contributors to hereditary cancer. In genetic diagnostics, multiplex ligation-dependent probe amplification (MLPA) is commonly used to identify them. However, MLPA is time-consuming and expensive if applied to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf50c4548dc63cd042107956fe43cdb6
https://pubmed.ncbi.nlm.nih.gov/33219106
https://pubmed.ncbi.nlm.nih.gov/33219106
Autor:
Mireia Menéndez, José Marcos Moreno-Cabrera, Gabriel Capellá, Paula Rofes, Silvia Iglesias, Jesús del Valle, Eva Tornero, Adriana Lopez-Doriga, Matilde Navarro, Alex Teulé, Lídia Feliubadaló, Gardenia Vargas-Parra, Angela Velasco, Daniel Azuara, Marta Pineda, Rafael de Cid, Sara González, Raquel Cuesta, Conxi Lázaro, Joan Brunet, Olga Campos, Mireia Gausachs, Xavier Muñoz, Esther Darder, Agostina Stradella
Background: CHEK2 variants are associated with intermediate breast cancer risk among other cancers. We aimed to comprehensively describe CHEK2 variants in a Spanish hereditary cancer (HC) cohort and adjust American College of Medical Genetics and Gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54b10f58c1c8851830b1ccfc697dbf7a
https://doi.org/10.22541/au.159050458.86704879
https://doi.org/10.22541/au.159050458.86704879
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients
Autor:
Matilde Navarro, Raquel Cuesta, Jesús del Valle, Sara González, Eva Tornero, Joan Brunet, Alex Teulé, Paula Rofes, José Marcos Moreno-Cabrera, Silvia Iglesias, Angela Velasco, Rafael de Cid, Olga Campos, Gardenia Vargas-Parra, Esther Darder, Marta Pineda, Gabriel Capellá, Mireia Menéndez, Xavier Muñoz, Adriana Lopez-Doriga, Agostina Stradella, Mireia Gausachs, Conxi Lázaro, Daniel Azuara, Lídia Feliubadaló
Publikováno v:
Human mutationREFERENCES. 41(12)
Background CHEK2 variants are associated with intermediate breast cancer risk among other cancers. We aimed to comprehensively describe CHEK2 variants in a Spanish hereditary cancer (HC) cohort and adjust American College of Medical Genetics and Geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c30338b9c92b80540b3b71d3ea473c
https://pubmed.ncbi.nlm.nih.gov/32906215
https://pubmed.ncbi.nlm.nih.gov/32906215
Autor:
Lídia Feliubadaló, Raquel Cuesta, Paula Rofes, Sami Belhadj, Rafael de Cid, Mónica Salinas, Gardenia Vargas-Parra, Alex Teulé, Olga Campos, Joan Brunet, Conxi Lázaro, José Marcos Moreno-Cabrera, Adriana Lopez-Doriga, Xavier Muñoz, Jesús del Valle, Gabriel Capellá, Sara González, Marta Pineda
Publikováno v:
Cancers, Vol 12, Iss 829, p 829 (2020)
Dipòsit Digital de la UB
Universidad de Barcelona
Cancers
Volume 12
Issue 4
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Cancers
Volume 12
Issue 4
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Fanconi anemia (FA) is caused by biallelic mutations in FA genes. Monoallelic mutations in five of these genes (BRCA1, BRCA2, PALB2, BRIP1 and RAD51C) increase the susceptibility to breast/ovarian cancer and are used in clinical diagnostics as bona-f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb45fc502540572f9bf96f231008033b
https://www.mdpi.com/2072-6694/12/4/829
https://www.mdpi.com/2072-6694/12/4/829
Autor:
Xavier de la Cruz, Silvia Iglesias, Francesc Balaguer, Alex Teulé, Natalia Padilla, Anna Fernández, Bryony A. Thompson, Marta Pineda, Jesús del Valle, Maria José Paules, Gabriel Capellá, Raquel Cuesta, Conxi Lázaro, Guido Plotz, Xavier Sanjuan, Juan Cadiñanos, Matilde Navarro, Maribel González-Acosta
Publikováno v:
Familial Cancer. 16:501-507
The clinical spectrum of germline mismatch repair (MMR) gene variants continues increasing, encompassing Lynch syndrome, Constitutional MMR Deficiency (CMMRD), and the recently reported MSH3-associated polyposis. Genetic diagnosis of these hereditary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ed8f1a2adf4ca47ea6dce3f716db760
https://doi.org/10.1007/s10689-017-9981-1
https://doi.org/10.1007/s10689-017-9981-1
Publikováno v:
Revista Internacional de Ciencias Podológicas. 12
Background: Rheumatoid arthritis affects more women. The prevalence in our country is 0.5%. It should be approached by a multidisciplinary team. Characteristic foot signs` are synovitis of joints, enthesitis, rheumatoid nodules and vasculitis. The co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5e0871ee0f4870c4913fa5bc2763b3c
https://doi.org/10.5209/ricp.57986
https://doi.org/10.5209/ricp.57986
Autor:
Esther Darder, Marga Nadal, Ignacio Blanco, Mireia Menéndez, Raquel Cuesta, Conxi Lázaro, Eva Tornero, Alex Teulé, Lídia Feliubadaló, Jesús del Valle, Rosa Miró, Gabriel Capellá, Joan Brunet
Publikováno v:
Breast Cancer Research and Treatment. 122:733-743
Large genomic rearrangements are estimated to account for approximately 5-10% of all disease-causing mutations in BRCA1 and BRCA2 genes in patients with hereditary breast and ovarian cancer syndrome (HBOC). We use MRC-Holland Multiplex Ligation-depen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4887ac028905abcb304af11bf40a6c3d
https://doi.org/10.1007/s10549-009-0613-9
https://doi.org/10.1007/s10549-009-0613-9
Autor:
Raquel Cuesta, Conxi Lázaro, Sara González, Adriana Lopez-Doriga, Victor Moreno, Olga Campos, Ignacio Blanco, Joan Brunet, Gabriel Capellá, Mireia Menéndez, Eduard Serra, Ester Castellsagué, Marta Pineda, Jesús del Valle, Eva Tornero, Carolina Gómez, Lídia Feliubadaló, Eva Montes
Next-generation sequencing (NGS) is changing genetic diagnosis due to its huge sequencing capacity and cost-effectiveness. The aim of this study was to develop an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45149e3f6c779202192748bc778c5e02
https://europepmc.org/articles/PMC3722680/
https://europepmc.org/articles/PMC3722680/
Autor:
Eva Tornero, Raquel Cuesta, Conxi Lázaro, Adriana Lopez-Doriga, Francisco D. Morón-Duran, Sergio Lopez-Doriga, Victor Moreno, Sara González, Eva Montes, Lídia Feliubadaló, Jesús del Valle, Mireia Menéndez, Gabriel Capellá, Marta Pineda, Carolina Gómez, Olga Campos
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
Universitat Jaume I
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Universitat Jaume I
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Next-generation sequencing (NGS) has revolutionized genomic research and is set to have a major impact on genetic diagnostics thanks to the advent of benchtop sequencers and flexible kits for targeted libraries. Among the main hurdles in NGS are the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed39d3a6bf54f34c5fcb7189ac4da17
http://hdl.handle.net/2117/23387
http://hdl.handle.net/2117/23387