Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Encarna B. Gómez García"'
Autor:
Greet Wieme, Jan Kral, Toon Rosseel, Petra Zemankova, Bram Parton, Michal Vocka, Mattias Van Heetvelde, Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, Jenneke van den Ende, Petr Nehasil, Sabine Tejpar, Marianna Borecka, Encarna B. Gómez García, Marinus J. Blok, Marketa Safarikova, Marta Kalousova, Karen Geboes, Robin De Putter, Bruce Poppe, Kim De Leeneer, Zdenek Kleibl, Marketa Janatova, Kathleen B. M. Claes
Publikováno v:
Cancers, Vol 13, Iss 17, p 4430 (2021)
(1) Background: The proportion and spectrum of germline pathogenic variants (PV) associated with an increased risk for pancreatic ductal adenocarcinoma (PDAC) varies among populations. (2) Methods: We analyzed 72 Belgian and 226 Czech PDAC patients b
Externí odkaz:
https://doaj.org/article/408ae272d30c4c97b9fbf79a7b5905f8
Autor:
Mercedes Robledo, Anne-Paule Gimenez-Roqueplo, Graeme Eisenhofer, Giuseppe Opocher, Patricia L. M. Dahia, Massimo Mannelli, Karel Pacak, Felix Beuschlein, Miguel Urioste, Carli M.J. Tops, Henri J.L.M. Timmers, Elisa Taschin, Carlos Suarez, Alexander P.A. Stegmann, Frank Schillo, Macarena Ruiz-Ferrer, Giovanna Roncador, Nicole Reisch, Victoria Raymond, Elena Rapizzi, Nan Qin, Miguel Quesada-Charneco, Tamara Prodanov, Pierre-François Plouin, Peggy Pierre, Arnaud Murat, Luigi Mori, Anna Merlo, Arjen R. Mensenkamp, Rocío Letón, Jacques W.M. Lenders, Esther Korpershoek, Emiliano Honrado, Frederik J. Hes, Isabelle Guilhem, Álvaro Gómez-Graña, Encarna B. Gómez-García, Xavier Girerd, Tonino Ercolino, Ronald R. de Krijger, Mara Giacchè, Eleonora P.M. Corssmit, María-Dolores Chiara, Philippe Chanson, Maurizio Castellano, Salud Borrego, Sara Bobisse, Marinus J. Blok, Yves-Jean Bignon, Jérôme Bertherat, Sandra Bernaldo de Quirós, Marta Barontini, Laurence Amar, Aguirre A. de Cubas, Lucía Inglada-Pérez, Nasséra Abermil, Iñaki Comino-Méndez, Nicole Paes Morales, Francesca Schiavi, Alberto Cascón, Nelly Burnichon
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e186187a379b455e8e5d962b4e1b154
https://doi.org/10.1158/1078-0432.c.6520958.v1
https://doi.org/10.1158/1078-0432.c.6520958.v1
Autor:
Anne M L Jansen, Marije A Geilenkirchen, Tom van Wezel, Shantie C Jagmohan-Changur, Dina Ruano, Heleen M van der Klift, Brendy E W M van den Akker, Jeroen F J Laros, Michiel van Galen, Anja Wagner, Tom G W Letteboer, Encarna B Gómez-García, Carli M J Tops, Hans F Vasen, Peter Devilee, Frederik J Hes, Hans Morreau, Juul T Wijnen
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157381 (2016)
BACKGROUND AND AIMS:Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no path
Externí odkaz:
https://doaj.org/article/d3a653d49cec4ce4a0f3cab6d6023e4e
Autor:
Encarna B. Gómez García, Diederik W.J. Dippel, Marie-Louise van Goor, Geert Jan Brouwers, Peter J. Koudstaal, Frank W.G. Leebeek
Publikováno v:
Thrombosis and Haemostasis. 93:92-96
SummaryHigh levels of plasminogen activator inhibitor type 1 (PAI-1) have been implicated as a risk factor for cardiovascular disease, but its precise role remains controversial.The 4G allele of the PAI-1 4G/5G promoter polymorphism is associated wit
Autor:
Gisella Figlioli, Amandine Billaud, Qin Wang, Manjeet K. Bolla, Joe Dennis, Michael Lush, Anders Kvist, Muriel A. Adank, Thomas U. Ahearn, Natalia N. Antonenkova, Päivi Auvinen, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Thomas Brüning, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, NBCS Collaborators, Kamila Czene, Peter Devilee, Thilo Dörk, Mikael Eriksson, Peter A. Fasching, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, Gord Glendon, Encarna B. Gómez Garcia, Anna González-Neira, Felix Grassmann, Pascal Guénel, Eric Hahnen, Ute Hamann, Peter Hillemanns, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, kConFab Investigators, Anna Jakubowska, Elza K. Khusnutdinova, Vessela N. Kristensen, Annika Lindblom, Maria A. Loizidou, Jan Lubiński, Arto Mannermaa, Tabea Maurer, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis I. Panayiotidis, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Matthias Ruebner, Emmanouil Saloustros, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Mitul Shah, Melissa C. Southey, Ian Tomlinson, Thérèse Truong, Elke M. van Veen, Camilla Wendt, Xiaohong R. Yang, Kyriaki Michailidou, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Irene L. Andrulis, D. Gareth Evans, Antoinette Hollestelle, Jenny Chang-Claude, Roger L. Milne, Paolo Peterlongo
Publikováno v:
Cancers, Vol 15, Iss 13, p 3313 (2023)
FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum a
Externí odkaz:
https://doaj.org/article/01386115a4d4453ab801980b7cc4e9be
Autor:
Cornelis L. Harteveld, Peter van Delft, Encarna B. Gómez García, Kirsten van Lom, Piero C. Giordano
Publikováno v:
Hemoglobin. 27:49-51
The IVS‐I‐116 (A→G) (α2) point mutation was previously observed in 11 carriers of two unrelated Dutch families, in association with a very mild α‐thalassemia (thal) phenotype [[1]]. The mutation, a...
Publikováno v:
Lancet Oncology, 10, 7, pp. 727-35
Lancet Oncology, 10, 727-35
Lancet Oncology, 10, 727-35
Item does not contain fulltext Familial adenomatous polyposis (FAP) is an autosomal dominant form of intestinal polyposis and colorectal cancer caused by germ-line mutations in the adenomatous polyposis coli (APC) gene. The term Gardner's syndrome is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60314994f6083ba80b55ae1a2f8b372f
https://hdl.handle.net/2066/80666
https://hdl.handle.net/2066/80666
Autor:
Diederik W.J. Dippel, Frank W.G. Leebeek, Huub H.D.M. van Vliet, Vinod Bhagwanbali, Moniek P.M. de Maat, Encarna B. Gómez García, T.N. Bongers, Mary-Lou P. J. van Goor
Publikováno v:
Stroke, 37(11), 2672-2677. Lippincott Williams & Wilkins
Background and Purpose— Elevated von Willebrand factor (vWF) concentrations are associated with an increased risk of ischemic heart disease. Several factors influence vWF antigen levels and activity, including blood group, genetic variability, acut
Autor:
Mary Lou P J van Goor, Diederik W.J. Dippel, Geert-Jan Brouwers, Encarna B. Gómez García, Peter J. Koudstaal, Frank W.G. Leebeek
Publikováno v:
Thrombosis Research, 108, 63-65. Elsevier Ltd.
Background : The relationship between the PIA2 allele of the Leu 33 Pro polymorphism of glycoprotein IIb/IIIa receptor (GPIIb/IIIa) and ischemic stroke is uncertain. The purpose of this study was to investigate a possible association between the GPII
Autor:
Tomas Kirchhoff, Mia M Gaudet, Antonis C Antoniou, Lesley McGuffog, Manjeet K Humphreys, Alison M Dunning, Stig E Bojesen, Børge G Nordestgaard, Henrik Flyger, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Thilo Dork, Peter Schürmann, Johann H Karstens, Peter Hillemanns, Fergus J Couch, Janet Olson, Celine Vachon, Xianshu Wang, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Barbara Burwinkel, Alfons Meindl, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, GENICA Network, Annegien Broeks, Marjanka K Schmidt, Laura J Van 't Veer, Linde M Braaf, Nichola Johnson, Olivia Fletcher, Lorna Gibson, Julian Peto, Clare Turnbull, Sheila Seal, Anthony Renwick, Nazneen Rahman, Pei-Ei Wu, Jyh-Cherng Yu, Chia-Ni Hsiung, Chen-Yang Shen, Melissa C Southey, John L Hopper, Fleur Hammet, Thijs Van Dorpe, Anne-Sophie Dieudonne, Sigrid Hatse, Diether Lambrechts, Irene L Andrulis, Natalia Bogdanova, Natalia Antonenkova, Juri I Rogov, Daria Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Christi J van Asperen, Robert A E M Tollenaar, Maartje J Hooning, Peter Devilee, Sara Margolin, Annika Lindblom, Roger L Milne, José Ignacio Arias, M Pilar Zamora, Javier Benítez, Gianluca Severi, Laura Baglietto, Graham G Giles, kConFab, AOCS Study Group, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Helene Holland, Sue Healey, Shan Wang-Gohrke, Jenny Chang-Claude, Arto Mannermaa, Veli-Matti Kosma, Jaana Kauppinen, Vesa Kataja, Bjarni A Agnarsson, Maria A Caligo, Andrew K Godwin, Heli Nevanlinna, Tuomas Heikkinen, Zachary Fredericksen, Noralane Lindor, Katherine L Nathanson, Susan M Domchek, SWE-BRCA, Niklas Loman, Per Karlsson, Marie Stenmark Askmalm, Beatrice Melin, Anna von Wachenfeldt, HEBON, Frans B L Hogervorst, Martijn Verheus, Matti A Rookus, Caroline Seynaeve, Rogier A Oldenburg, Marjolijn J Ligtenberg, Margreet G E M Ausems, Cora M Aalfs, Hans J P Gille, Juul T Wijnen, Encarna B Gómez García, EMBRACE, Susan Peock, Margaret Cook, Clare T Oliver, Debra Frost, Craig Luccarini, Gabriella Pichert, Rosemarie Davidson, Carol Chu, Diana Eccles, Kai-Ren Ong, Jackie Cook, Fiona Douglas, Shirley Hodgson, D Gareth Evans, Rosalind Eeles, Bert Gold, Paul D P Pharoah, Kenneth Offit, Georgia Chenevix-Trench, Douglas F Easton, BCAC/CIMBA
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e35706 (2012)
Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the pre
Externí odkaz:
https://doaj.org/article/1433592c7c844e02a12dd57e5bf1a0a8