受强制性开放获取政策约束的文章 - Adrià López Fernández了解详情
无法在其他位置公开访问的文章：3 篇
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Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
S Bonache, I Esteban, A Moles-Fernández, A Tenés, L Duran-Lozano, ...
Journal of cancer research and clinical oncology 144, 2495-2513, 2018
强制性开放获取政策： Government of Spain
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Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast …
G Montalban, S Bonache, A Moles-Fernández, A Gisbert-Beamud, ...
Journal of medical genetics 56 (2), 63-74, 2019
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BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients
G Montalban, S Bonache, V Bach, A Gisbert-Beamud, A Tenés, ...
Cancer Genetics 258, 10-17, 2021
强制性开放获取政策： Government of Spain
可在其他位置公开访问的文章：22 篇
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ...
Human mutation 40 (9), 1557-1578, 2019
强制性开放获取政策： US Department of Defense, US National Institutes of Health, National Health …
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The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology
D Tamborero, R Dienstmann, MH Rachid, J Boekel, A Lopez-Fernandez, ...
Nature cancer 3 (2), 251-261, 2022
强制性开放获取政策： Cancer Research UK, UK Medical Research Council, National Institute for …
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Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations?
A Moles-Fernández, L Duran-Lozano, G Montalban, S Bonache, ...
Frontiers in genetics 9, 366, 2018
强制性开放获取政策： European Commission, Government of Spain
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Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie, L McGuffog, J Adlard, ...
Cancer research 80 (3), 624-638, 2020
强制性开放获取政策： US Department of Defense, US National Institutes of Health, National Health …
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Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma
B Calsina, E Piñeiro-Yáñez, ÁM Martínez-Montes, E Caleiras, ...
Nature communications 14 (1), 1122, 2023
强制性开放获取政策： German Research Foundation, Banking Foundation "la Caixa", Government of Spain
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Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels
L Feliubadaló, A López‐Fernández, M Pineda, O Díez, J Del Valle, ...
International Journal of Cancer 145 (10), 2682-2691, 2019
强制性开放获取政策： US National Institutes of Health, Government of Spain
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
J Coignard, M Lush, J Beesley, TA O’mara, J Dennis, JP Tyrer, DR Barnes, ...
Nature communications 12 (1), 1078, 2021
强制性开放获取政策： US Department of Defense, US National Institutes of Health, National Health …
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Quality of colonoscopy is associated with adenoma detection and postcolonoscopy colorectal cancer prevention in Lynch syndrome
A Sánchez, VH Roos, M Navarro, M Pineda, B Caballol, L Moreno, ...
Clinical Gastroenterology and Hepatology 20 (3), 611-621. e9, 2022
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
DR Barnes, V Silvestri, G Leslie, L McGuffog, J Dennis, X Yang, J Adlard, ...
JNCI: Journal of the National Cancer Institute 114 (1), 109-122, 2022
强制性开放获取政策： US Department of Defense, US National Institutes of Health, National Health …
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Clinical and pathological characterization of Lynch-like syndrome
MD Picó, A Castillejo, Ó Murcia, M Giner-Calabuig, M Alustiza, A Sánchez, ...
Clinical Gastroenterology and Hepatology 18 (2), 368-374. e1, 2020
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
G Montalban, E Fraile‐Bethencourt, I López‐Perolio, P Pérez‐Segura, ...
Human mutation 39 (9), 1155-1160, 2018
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Risk of cancer in family members of patients with lynch-like syndrome
MD Picó, AB Sánchez-Heras, A Castillejo, M Giner-Calabuig, M Alustiza, ...
Cancers 12 (8), 2225, 2020
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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
L Duran-Lozano, G Montalban, S Bonache, A Moles-Fernández, A Tenés, ...
Breast Cancer Research and Treatment 174, 543-550, 2019
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Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma
S Mellid, E Gil, R Letón, E Caleiras, E Honrado, S Richter, N Palacios, ...
Frontiers in Endocrinology 13, 1070074, 2023
强制性开放获取政策： UK Medical Research Council, Government of Spain
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Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic
A López-Fernández, G Villacampa, E Grau, M Salinas, E Darder, ...
Genetics in Medicine 23 (8), 1450-1457, 2021
强制性开放获取政策： US National Institutes of Health, Government of Spain
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MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma
M Monteagudo, B Calsina, ME Salazar-Hidalgo, ÁM Martínez-Montes, ...
Best Practice & Research Clinical Endocrinology & Metabolism, 101931, 2024
强制性开放获取政策： Banking Foundation "la Caixa"
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Role of psychological background in cancer susceptibility genetic testing distress: it is not only about a positive result
A López‐Fernández, G Villacampa, M Salinas, E Grau, E Darder, ...
Journal of Genetic Counseling 32 (4), 778-787, 2023
强制性开放获取政策： US National Institutes of Health, Government of Spain
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