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

Autor: José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Sérgio Castedo, Sónia Sousa, Hugo Pinheiro, Liliana Sousa, Rita Monteiro, Joaquin J Maqueda, Susana Fernandes, Fátima Carneiro, Nádia Pinto, Carolina Lemos, Carla Pinto, Manuel R Teixeira, Stefan Aretz, Svetlana Bajalica-Lagercrantz, Judith Balmaña, Ana Blatnik, Patrick R Benusiglio, Maud Blanluet, Vincent Bours, Hilde Brems, Joan Brunet, Daniele Calistri, Gabriel Capellá, Sergio Carrera, Chrystelle Colas, Karin Dahan, Robin de Putter, Camille Desseignés, Elena Domínguez-Garrido, Conceição Egas, D Gareth Evans, Damien Feret, Eleanor Fewings, Rebecca C Fitzgerald, Florence Coulet, María Garcia-Barcina, Maurizio Genuardi, Lisa Golmard, Karl Hackmann, Helen Hanson, Elke Holinski-Feder, Robert Hüneburg, Mateja Krajc, Kristina Lagerstedt-Robinson, Conxi Lázaro, Marjolijn J L Ligtenberg, Cristina Martínez-Bouzas, Sonia Merino, Geneviève Michils, Srdjan Novaković, Ana Patiño-García, Guglielmina Nadia Ranzani, Evelin Schröck, Inês Silva, Catarina Silveira, José L Soto, Isabel Spier, Verena Steinke-Lange, Gianluca Tedaldi, María-Isabel Tejada, Emma R Woodward, Marc Tischkowitz, Nicoline Hoogerbrugge, Carla Oliveira

Publikováno v: Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, J J, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, M R, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, P R, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capellá, G, Carrera, S, Colas, C, Dahan, K, de Putter, R, Desseignés, C, Domínguez-Garrido, E, Egas, C, Evans, D G, Feret, D, Fewings, E, Fitzgerald, R C, Coulet, F, Garcia-Barcina, M, Genuardi, M, Golmard, L, Hackmann, K, Hanson, H, Holinski-Feder, E, Hüneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lázaro, C, Ligtenberg, M J L, Martínez-Bouzas, C, Merino, S, Michils, G, Novaković, S, Patiño-García, A, Ranzani, G N, Schröck, E, Silva, I, Silveira, C, Soto, J L, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, M-I, Woodward, E R, Tischkowitz, M, Hoogerbrugge, N & Oliveira, C 2023, ' 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 ', The Lancet. Oncology, vol. 24, no. 1, pp. 91-106 . https://doi.org/10.1016/S1470-2045(22)00643-X
Lancet Oncology, 24, 1, pp. 91-106
Scientia
Lancet Oncology, 24, 91-106

Genotype; Cancer phenotypes; Genetic tumour Genotip; Fenotips del càncer; Tumor genètic Genotipo; Fenotipos del cáncer; Tumor genético Background Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0135cda703c531e384ac8d463c801fde
https://lirias.kuleuven.be/handle/20.500.12942/714811

Synthesis and structural study of novel 1,4,5,6,7,8-hexahydroquinolines

Autor: Roberto Martínez, Margarita Suárez, Nazario Martín, Norbert Blaton, Héctor Novoa, Estael Ochoa, Camiel J. De Ranter, José L. Soto, Carlos Seoane, Oswald M. Peeters, Yamila Verdecia, Margarita Quinteir

Publikováno v: Scopus-Elsevier

A new series of 1,4,5,6,7,8-hexahydroquinolines (9a-j) has been synthesized and their structural features studied by X-ray analysis and theoretical calculations at semiempirical and ab initio levels. A good correlation is found between the most stabl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d5b96031d735ecc355cc3a33c9345a
https://doi.org/10.1002/jhet.5570370411

Structural study of 3,4-dihydropyridones and furo[3,4-b]-2(1H)-pyridones as potential calcium channel modulators

Autor: C. Seoane, José L. Soto, Yamila Verdecia, Ramon Pomes, Julio Duque, Estael Ochoa, Margarita Suarez, M. Quinteiro, Nazario Martín, Beatriz Pita

Publikováno v: Scopus-Elsevier

A structural study of 4-aryl substituted 5-alkoxycarbonyl-6-methyl-3,4-dihydropyridones (4a-d) and hexahydrofuro-[3,4-b]-2-(1H)-pyridones (5a-d) has been carried out using X-ray analyses, semiempirical (AM1) calculations, NOE experiments and coupling

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5019dc06a07f440744ca75c92b504013
https://doi.org/10.1016/s0040-4020(98)00760-1

Synthesis and structural characterization of substituted thieno[2,3-b]pyridines fromo-chloroformyl-1,4-dihydropyridines

Autor: José L. Soto, Remberto Espinosa, M. Quinteiro, C. Seoane, Leandro González, Beatriz Pita, Nazario Martín, Margarita Suarez, Estael Ochoa

Publikováno v: Journal of Heterocyclic Chemistry. 34:931-935

Novel 4,7-dihydrothieno[2,3-b]pyridines 10a-d have been prepared in a one step procedure from the readily available o-chloroformyl substituted 1,4-dihydropyridines 9a-d and ethyl mercaptoacetate in good yields. Semiempirical calculations reveal a fav

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b797730a81bd2a71cfdbdfe2cf86bac3
https://doi.org/10.1002/jhet.5570340334

Synthesis and theoretical calculations of novel 5-aryl substituted 2,4,7-trioxo and 4,7-dioxo-2-thioxopyrido[2,3-d]pyrimidines

Autor: Margarita Suarez, René Rodríguez, José L. Soto, Estael Ochoa, C. Seoane, Leandro González, M. Quinteiro, A. Morales, Nazario Martín

Publikováno v: Scopus-Elsevier

New substituted pyrido[2,3-d]pyrimidines 5 and 6 have been prepared in one-step from the readily available 6-amino-2,4-dioxotetrahydropyrimidine (1) or 6-amino-4-oxo-2-thioxotetrahydropyrimidine (2) and the arylidene substituted Meldrum's acid. The s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3c957aae18789abe184c4ccc1221b34
https://doi.org/10.1002/jhet.5570330108