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Barbara Rivera PhD
Barbara Rivera PhD
Principal Investigator, IDIBELL
Verifisert e-postadresse på idibell.cat - Startside
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Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
L Witkowski, J Carrot-Zhang, S Albrecht, S Fahiminiya, N Hamel, ...
Nature genetics 46 (5), 438-443, 2014
4522014
Germline RECQL mutations are associated with breast cancer susceptibility
C Cybulski, J Carrot-Zhang, W Kluźniak, B Rivera, A Kashyap, ...
Nature genetics 47 (6), 643-646, 2015
2102015
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors
B Rivera, T Gayden, J Carrot-Zhang, J Nadaf, T Boshari, D Faury, ...
Acta neuropathologica 131, 847-863, 2016
1682016
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families
O Calvete, P Martinez, P Garcia-Pavia, C Benitez-Buelga, ...
Nature communications 6 (1), 8383, 2015
1582015
Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype
JE Grolleman, RM De Voer, FA Elsayed, M Nielsen, RDA Weren, C Palles, ...
Cancer cell 35 (2), 256-266. e5, 2019
1542019
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D
X Yang, H Song, G Leslie, C Engel, E Hahnen, B Auber, J Horváth, K Kast, ...
JNCI: Journal of the National Cancer Institute 112 (12), 1242-1250, 2020
1372020
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations
RD Chernock, B Rivera, N Borrelli, DA Hill, S Fahiminiya, T Shah, ...
Modern Pathology 33 (7), 1264-1274, 2020
1062020
Biallelic NTHL1 mutations in a woman with multiple primary tumors
B Rivera, E Castellsagué, I Bah
New England Journal of Medicine 500, 70s, 2015
1022015
Age at onset should be a major criterion for subclassification of colorectal cancer
J Perea, D Rueda, A Canal, Y Rodríguez, E Álvaro, I Osorio, C Alegre, ...
The Journal of Molecular Diagnostics 16 (1), 116-126, 2014
842014
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
L de Kock, YC Wang, T Revil, D Badescu, B Rivera, N Sabbaghian, M Wu, ...
Journal of medical genetics 53 (1), 43-52, 2016
762016
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw
CC Gomes, T Gayden, A Bajic, OF Harraz, J Pratt, H Nikbakht, E Bareke, ...
Nature communications 9 (1), 4572, 2018
722018
Approach to early-onset colorectal cancer: clinicopathological, familial, molecular and immunohistochemical characteristics
J Perea, E Alvaro, Y Rodríguez, C Gravalos, E Sánchez-Tomé, B Rivera, ...
World journal of gastroenterology: WJG 16 (29), 3697, 2010
652010
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study
B Rivera, S González, E Sánchez-Tomé, I Blanco, F Mercadillo, R Letón, ...
Annals of oncology 22 (4), 903-909, 2011
562011
A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia
B Rivera, J Perea, E Sánchez, M Villapún, E Sánchez-Tomé, F Mercadillo, ...
European Journal of Human Genetics 22 (3), 423-426, 2014
522014
Homologous recombination DNA repair defects in PALB2-associated breast cancers
A Li, FC Geyer, P Blecua, JY Lee, P Selenica, DN Brown, F Pareja, ...
NPJ breast cancer 5 (1), 23, 2019
512019
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma
B Rivera, M Di Iorio, J Frankum, J Nadaf, S Fahiminiya, SL Arcand, ...
Cancer research 77 (16), 4517-4529, 2017
422017
Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion
L de Kock, D Geoffrion, B Rivera, R Wagener, N Sabbaghian, S Bens, ...
Genes, Chromosomes and Cancer 57 (5), 223-230, 2018
372018
Ovarian microcystic stromal tumors are characterized by alterations in the beta-catenin-APC pathway and may be an extracolonic manifestation of familial adenomatous polyposis
WG McCluggage, JA Irving, AS Chong, BA Clarke, RH Young, ...
The American Journal of Surgical Pathology 42 (1), 137-139, 2018
372018
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis
B Rivera, J Nadaf, S Fahiminiya, M Apellaniz-Ruiz, A Saskin, AS Chong, ...
The Journal of clinical investigation 130 (3), 1479-1490, 2020
352020
The genetic landscape of choroid plexus tumors in children and adults
C Thomas, P Soschinski, M Zwaig, S Oikonomopoulos, K Okonechnikov, ...
Neuro-oncology 23 (4), 650-660, 2021
332021
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