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TITLE: Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes  Full Text
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignes, Camille; Dominguez Garrido, Elena; Egas, Conceicao; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, Maria; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Huneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lazaro, Conxi; Ligtenberg, Marjolijn J. L.; Martinez Bouzas, Cristina; Merino, Sonia; Michils, Genevieve; Novakovic, Srdjan; Patino Garcia, Ana; Ranzani, Guglielmina Nadia; Schrock, Evelin; Silva, Ines; Silveira, Catarina; Soto, Jose L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, Maria Isabel; Woodward, Emma R.; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 9
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TITLE: CTNNA1 GERMLINE VARIANTS: DISEASE SPECTRUM EXTENDING BEYOND HEREDITARY DIFFUSE GASTRIC CANCER  Full Text
AUTHORS: Lobo, Silvana; Benusiglio, Patrick R.; Coulet, Florence; Boussemart, Lise; Golmard, Lisa; Spier, Isabel; Hueneburg, Robert; Aretz, Stefan; van Hest, Liselotte P.; Balmana, Judith; Tinschert, Sigrid; Katona, Bryson W.; Aronson, Melyssa; Antoniazzi, Augusto; Palmero, Edenir Ines; Horton, Carrie; Karam, Rachid; Moreira, Leticia; Castellvi Bel, Sergi; Nehoray, Bita; Gruber, Stephen B.; van der Kolk, Lizet E.; Cats, Annemieke; van Dieren, Jolanda M.; Colas, Chrystelle; Pereira, Paulo S.; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants  Full Text
AUTHORS: Coudert, Marie; Drouet, Youenn; Delhomelle, Helene; Svrcek, Magali; Benusiglio, Patrick; Coulet, Florence; Clark, Dana Farengo; Katona, Bryson; van Hest, Liselotte P.; Van der Kolk, Lizet; Cats, Annemieke; van Dieren, Jolanda M.; Nehoray, Bita; Slavin, Thomas; Spier, Isabel; Huneburg, Robert; Lobo, Silvana; Oliveira, Carla; Boussemart, Lise; Masson, Laure; Chiesa, Jean; Schwartz, Mathias; Buecher, Bruno; Lisa, Golmard; Bouvier, Anne Marie; Bonadona, Valerie; Stoppa Lyonnet, Dominique; Lasset, Christine; Colas, Chrystelle; ...More
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: WOS
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TITLE: First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants
AUTHORS: Coudert, Marie; Drouet, Youenn; Delhomelle, Helene; Svrcek, Magali; Benusiglio, Patrick R.; Coulet, Florence; Clark, Dana Farengo; Katona, Bryson W.; van Hest, Liselotte P.; van der Kolk, Lizet E.; Cats, Annemieke; van Dieren, Jolanda M.; Nehoray, Bita; Slavin, Thomas; Spier, Isabel; Huneburg, Robert; Lobo, Silvana; Oliveira, Carla; Boussemart, Lise; Masson, Laure; Chiesa, Jean; Schwartz, Mathias; Buecher, Bruno; Golmard, Lisa; Bouvier, Anne Marie; Bonadona, Valerie; Stoppa Lyonnet, Dominique; Lasset, Christine; Colas, Chrystelle; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: Scopus WOS
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TITLE: Methylation tolerance due to an O-6-methylguanine DNA methyltransferase (MGMT) field defect in the colonic mucosa: an initiating step in the development of mismatch repair-deficient colorectal cancers
AUTHORS: Magali Svrcek; Olivier Buhard; Chrystelle Colas; Florence Coulet; Sylvie Dumont; Illiasse Massaoudi; Amel Lamri; Richard Hamelin; Jacques Cosnes; Carla Oliveira; Raquel Seruca ; Marie Pierre Gaub; Michele Legrain; Ada Collura; Olivier Lascols; Emmanuel Tiret; Jean Francois Flejou; Alex Duval;
PUBLISHED: 2010, SOURCE: GUT, VOLUME: 59, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 40
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TITLE: Clinical Outcomes of Pulmonary Arterial Hypertension in Patients Carrying an ACVRL1 (ALK1) Mutation
AUTHORS: Barbara Girerd; David Montani; Florence Coulet; Benjamin Sztrymf; Azzeddine Yaici; Xavier Jais; David Tregouet; Abilio Reis; Valerie Drouin Garraud; Alain Fraisse; Olivier Sitbon; Dermot S O'Callaghan; Gerald Simonneau; Florent Soubrier; Marc Humbert;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, VOLUME: 181, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef