Colestasis intrahepática. A veces puede ser benigna y recurrente

Autor: Ignacio Ros-Arnal, Laura Morlan-Herrador, R. García-Romero, Cristina Molera-Busons, María Dolores Miramar

Publikováno v: Gastroenterología y Hepatología. 44:719-720

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5936bed147480c97f574e8665610df7c
https://doi.org/10.1016/j.gastrohep.2020.10.015

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Autor: Ana Blanco, Miguel de la Hoya, Ana Osorio, Orland Diez, María Dolores Miramar, Mar Infante, Cristina Martinez-Bouzas, Asunción Torres, Adriana Lasa, Gemma Llort, Joan Brunet, Begoña Graña, Pedro Perez Segura, María José Garcia, Sara Gutiérrez-Enríquez, Ángel Carracedo, María-Isabel Tejada, Eladio A Velasco, María-Teresa Calvo, Judith Balmaña, Javier Benitez, Trinidad Caldés, Ana Vega

Publikováno v: PLoS ONE, Vol 8, Iss 7, p e67538 (2013)

BackgroundThe PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of

Externí odkaz: https://doaj.org/article/e986509c5ef547abb3c3fe9c26d95525

Repercusión clínica de la traslocación t(7;15) (p22;q26) en varios miembros de una misma familia

Autor: Victoria Caballero Pérez, María Dolores Miramar Gallart, Alejandro González Álvarez, María Concepción García Jiménez, Francisco Javier López-Pisón

Publikováno v: Anales de Pediatría, Vol 87, Iss 2, Pp 113-115 (2017)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9be9786096edd2530ce37ebe2dd8b2bf
http://www.sciencedirect.com/science/article/pii/S1695403316303022

Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing

Autor: María Luisa Baranguán Castro, Ruth García Romero, María Dolores Miramar Gallart

Publikováno v: Revista Española de Enfermedades Digestivas v.109 n.11 2017
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
instname
Revista Espanola de Enfermedades Digestivas, Vol 109, Iss 11, Pp 802-802

Dubin-Johnson syndrome is a rare benign inherited disorder, caused by mutations in ABCC2 gen, and it is characterized by predominantly conjugated hyperbilirubinemia that can be increased by intercurrent infectious illnesses or surgical procedures. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5129e2bbdfa6af3a38c49f975b0a5a82
https://pubmed.ncbi.nlm.nih.gov/29032691

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Autor: Maria J. Soares, Mauricio Magalhaes Costa, Ingrid Petroni Ewald, Rachel Kyle, Nelly Sabbaghian, Torben A Kruse, Leonor Gusmão, Mads Thomassen, Silvia Casadei, Annemarie H. van der Hout, Marc Tischkowitz, Patrícia Rocha, Ana Vega, Miguel de la Hoya, Patricia Ashton-Prolla, Lone Sunde, Sara Gutiérrez-Enríquez, Dirce Maria Carraro, Conxi Lázaro, Philippe Maillet, Maroulio Pertesi, Cindy Benson, Pedro Pinto, Alberto Gulino, Nancy Uhrhammer, Drakoulis Yannoukakos, William D. Foulkes, Lucie Cornil, Etienne Rouleau, Ana Peixoto, Ignacio Blanco, Gaelle Benais-Pont, Robert Royer, Mary Claire King, Montserrat Baiget, Thangarajan Rajkumar, María Dolores Miramar, Ana Rodriguez Valle, Maria Teresa Calvo, Judith Balmaña, Anne-Marie Gerdes, Rosette Lidereau, Giuseppe Giannini, Catarina Santos, Eladio Velasco, Maria Isabel Achatz, Dorthe G. Crüger, Luisa Mota-Vieira, Carmen Alonso, Orland Diez, Eitan Friedman, Manuela Pinheiro, Brigitte Bressac-de Paillerets, Yael Laitman, Steven A. Narod, Teresa Ramón y Cajal, Begoña Graña, António Amorim, Trinidad Caldés, Lídia Feliubadaló, Mercedes Durán, Bruno Pardo, Erik Teugels, Audrey Remenieras, Manuel R. Teixeira, Yves-Jean Bignon, Ana Blanco

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L E M, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3
Peixoto, A, Santos, C, Pinheiro, M, Pinto, P, Soares, M J, Rocha, P, Gusmão, L, Amorim, A, van der Hout, A, Gerdes, A-M, Thomassen, M, Kruse, T A, Cruger, D, Sunde, L, Bignon, Y-J, Uhrhammer, N, Cornil, L, Rouleau, E, Lidereau, R, Yannoukakos, D, Pertesi, M, Narod, S, Royer, R, Costa, M M, Lazaro, C, Feliubadaló, L, Graña, B, Blanco, I, de la Hoya, M, Caldés, T, Maillet, P, Benais-Pont, G, Pardo, B, Laitman, Y, Friedman, E, Velasco, E A, Durán, M, Miramar, M-D, Valle, A R, Calvo, M-T, Vega, A, Blanco, A, Diez, O, Gutiérrez-Enríquez, S, Balmaña, J, Ramon Y Cajal, T, Alonso, C, Baiget, M, Foulkes, W, Tischkowitz, M, Kyle, R, Sabbaghian, N, Ashton-Prolla, P, Ewald, I P, Rajkumar, T, Mota-Vieira, L, Giannini, G, Gulino, A, Achatz, M I, Carraro, D M, de Paillerets, B B, Remenieras, A, Benson, C, Casadei, S, King, M-C, Teugels, E & Teixeira, M R 2011, ' International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation ', Breast Cancer Research and Treatment, vol. 127, no. 3, pp. 671-9 . https://doi.org/10.1007/s10549-010-1036-3
Breast Cancer Research and Treatment, 127(3), 671-679. SPRINGER
BREAST CANCER RESEARCH AND TREATMENT
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

9 páginas, 4 figuras, 1 tabla.-- El pdf del artículo es la versión pre-print.-- et al.
The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02e96ceaf1775d47c62e59d3f95ac1d
https://doi.org/10.1007/s10549-010-1036-3