Marc Tischkowitz


AuthID: R-00F-EC2

Publicações a aguardar confirmação

1
TÍTULO: 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
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2023, FONTE: LANCET ONCOLOGY, VOLUME: 24, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 14
2
TÍTULO: WHOLE-EXOME SEQUENCING RE-ANALYSIS OF FAMILIES WITH SUSPECTED GASTRIC CANCER TUMOUR RISK SYNDROMES STRENGTHENS THE ROLE OF PALB2 IN DIFFUSE GASTRIC CANCER AND LOBULAR BREAST CANCER PREDISPOSITION  Full Text
AUTORES: Garcia Pelaez, J.; Te, Paske I.; Sommer, A.; Laurie, S.; Demidov, G.; Barbosa Matos, R.; Jose, Sao C.; Ferreira, M.; Almeida, F.; Matalonga, L.; Garrido, L.; Castedo, S.; Huntsman, D.; Steinke Lange, V.; Laner, A.; Holinski Feder, E.; Aretz, S.; De Voer, R.; Tischkowitz, M.; Hoogerbrugge, N.; Oliveira, C.; ...Mais
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
INDEXADO EM: WOS
3
TÍTULO: DISRUPTION OF REGULATORY ELEMENTS IN THE CDH1 VICINITY AS A POTENTIAL HDGC CAUSE, INCREASED PENETRANCE AND EARLY ONSET CANCER  Full Text
AUTORES: Sao Jose, C.; Garcia Pelaez, J.; Andre, A.; Ferreira, M.; Tusie, M. T.; Sommer, A.; te Paske, I; Caldas, C.; Senz, J.; Tischkowitz, M.; de Voer, R. M.; Demidov, G.; Laurie, S.; Huntsman, D.; Hoogerbrugge, N.; Oliveira, C.;
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
INDEXADO EM: WOS
4
TÍTULO: GERMLINE COPY NUMBER VARIANTS: AN UNDERREPORTED GENETIC DIAGNOSIS IN GASTROINTESTINAL TUMOUR RISK SYNDROME SUSPECTED INDIVIDUALS  Full Text
AUTORES: Garcia Pelaez, Jose; Laurie, Steve; Demidov, German; Paramonov, Ida; Sommer, Anna K.; te Paske, Iris B. A. W.; Huntsman, David; Holinski Feder, Elke; Tischkowitz, Marc; Aretz, Stefan; Hoogerbrugge, Nicoline; de Voer, Richarda M.; Oliveira, Carla;
PUBLICAÇÃO: 2022, FONTE: MEDICINE, VOLUME: 101, NÚMERO: 30
INDEXADO EM: WOS
5
TÍTULO: International Delphi consensus guidelines for follow-up after prophylactic total gastrectomy: the Life after Prophylactic Total Gastrectomy (LAP-TG) study  Full Text
AUTORES: Geoffrey Roberts; Patrick R Benusiglio; Tanya Bisseling; Daniel Coit; Jeremy L Davis; Sam Grimes; Theresa A Guise; Richard Hardwick; Kirsty Harris; Paul Furman Mansfield; Jeremy Rossaak; Karen Chelcun Schreiber; Peter P Stanich; Vivian E Strong; Pardeep Kaurah; Julie Angel; Banu Arun; Manuela Baptista; Grant Beban; Ernst Jan Spillenaar Bilgen; Alex Boussioutas; Simone Busija; Carlos Caldas; Fatima Carneiro ; Annemieke Cats; Maureen Connolly; Johanna D’Addario; Massimiliano di Pietro; Cuong Duong; Naheed Farooq; Rebecca Fitzgerald; Claire Forde; Lauren Gamble; Kimberley Gamet; Irene Gullo; Trevor Hamilton; Nicoline Hoogerbrugge; Shannon Hopkins; Bryson W Katona; Sonia Kupfer; Madison LaRose; Jeremie H Lefevre; Rachael Lopez; Julie Moskowitz; Kathryn Munder; Enrique Norero; Yann Parc; Karyn Paringatai; Susan Parry; Suraj Rajasimhan; Ross Roberts; Kasmintan Schrader; Carol Semrad; Ben Smith; Claire Smith; Fabiana Sousa; Elena Stoffel; Nicola Sunderland; Magali Svrcek; Marc Tischkowitz; Jolanda van Dieren; Bart Witteman; Yanghee Woo; Sam Yoon; ...Mais
PUBLICAÇÃO: 2022, FONTE: Gastric Cancer, VOLUME: 25, NÚMERO: 6
INDEXADO EM: Scopus CrossRef: 6
6
TÍTULO: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data  Full Text
AUTORES: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; Karolis Sablauskas; Marco Savarese; Wouter Steyaert; Joeri K van der Velde; Antonio Vitobello; Antonio Vitobello; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Lisenka E L M Vissers; Lisenka E L M Vissers; Richarda de Voer; Richarda de Voer; Stefan Aretz; Gabriel Capella; Gareth Evans; Jose Garcia Pelaez; Elke Holinski Feder; Nicoline Hoogerbrugge; Andreas Laner; Carla Oliveira; Andreas Rump; Evelin Schröck; Anna Katharina Sommer; Verena Steinke Lange; Iris te Paske; Marc Tischkowitz; Laura Valle; Siddharth Banka; Elisa Benetti; Giorgio Casari; Andrea Ciolfi; Jill Clayton Smith; Bruno Dallapiccola; Elke de Boer; Kornelia Ellwanger; Laurence Faivre; Holm Graessner; Tobias B Haack; Anna Hammarsjö; Marketa Havlovicova; Alexander Hoischen; Anne Hugon; Adam Jackson; Tjitske Kleefstra; Anna Lindstrand; Estrella López Martín; Milan Macek; Manuela Morleo; Vicenzo Nigro; Ann Nordgren; Maria Pettersson; Michele Pinelli; Simone Pizzi; Manuel Posada; Francesca Clementina Radio; Alessandra Renieri; Caroline Rooryck; Lukas Ryba; Martin Schwarz; Marco Tartaglia; Christel Thauvin; Annalaura Torella; Aurélien Trimouille; Alain Verloes; Pavel Votypka; Klea Vyshka; Birte Zurek; Jonathan Baets; Danique Beijer; Gisèle Bonne; Judith Cossins; Teresinha Evangelista; Alessandra Ferlini; Peter Hackman; Michael G Hanna; Rita Horvath; Henry Houlden; Jarred Lau; Hanns Lochmüller; ...Mais
PUBLICAÇÃO: 2021, FONTE: European Journal of Human Genetics, VOLUME: 29, NÚMERO: 9
INDEXADO EM: Scopus CrossRef: 17
7
TÍTULO: Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer
AUTORES: Taru A Muranen; Sofia Khan; Rainer Fagerholm; Kristiina Aittomaeki; Julie M Cunningham; Joe Dennis; Goska Leslie; Lesley McGuffog; Michael T Parsons; Jacques Simard; Susan Slager; Penny Soucy; Douglas F Easton; Marc Tischkowitz; Amanda B Spurdle; Rita K Schmutzler; Barbara Wappenschmidt; Eric Hahnen; Maartje J Hooning; Christian F Singer; Gabriel Wagner; Mads Thomassen; Inge Sokilde Pedersen; Susan M Domchek; Katherine L Nathanson; Conxi Lazaro; Caroline Maria Rossing; Irene L Andrulis; Manuel R Teixeira ; Paul James; Judy Garber; Jeffrey N Weitzel; Anna Jakubowska; Drakoulis Yannoukakos; Esther M John; Melissa C Southey; Marjanka K Schmidt; Antonis C Antoniou; Georgia Chenevix Trench; Carl Blomqvist; Heli Nevanlinna; ...Mais
PUBLICAÇÃO: 2020, FONTE: NPJ BREAST CANCER, VOLUME: 6, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 3
8
TÍTULO: Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes  Full Text
AUTORES: Janet R Vos; Lisette Giepmans; Claas Roehl; Nicoline Geverink; Nicoline Hoogerbrugge; Marjolijn Ligtenberg; Marleen Kets; Rolf Sijmons; Gareth Evans; Emma Woodward; Marc Tischkowitz; Eamonn Maher; Verena Steinke Lange; Elke Holinski Feder; Thierry Frebourg; Claude Houdayer; Rosalie E Ferner; Jan Lubinski; Karolina Ertmanska; Svetlana B Bajalica Lagercrantz; Emma Tham; Ignacio Blanco Guillermo; Gabriel Capella; Joan Brunet Vidal; Conxi Lazaro; Judith Balmana; Vincent Bours; Eric Legius; Pierre Wolkenstein; Bela Melegh; Carla Oliveira; Manuel Teixeira ; Bruce Poppe; Kathleen Claes; Hector Salvador Hernandez; Stefan Aretz; Isabel Spier; Rianne Oostenbrink; Mateja Krajc; Ana Blatnik; Evelin Schrock; Sirkku Peltonen; Marja Hietala; ...Mais
PUBLICAÇÃO: 2019, FONTE: FAMILIAL CANCER, VOLUME: 18, NÚMERO: 2
INDEXADO EM: WOS CrossRef: 16
9
TÍTULO: Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study
AUTORES: Eleanor Fewings; Alexey Larionov; James Redman; Mae A Goldgraben; James Scarth; Susan Richardson; Carole Brewer; Rosemarie Davidson; Ian Ellis; Gareth G Evans; Dorothy Halliday; Louise Izatt; Peter Marks; Vivienne McConnell; Louis Verbist; Rebecca Mayes; Graeme R Clark; James Hadfield; Suet Feung Chin; Manuel R Teixeira ; Olivier T Giger; Richard Hardwick; Massimiliano di Pietro; Maria O'Donovan; Paul Pharoah; Carlos Caldas; Rebecca C Fitzgerald; Marc Tischkowitz; ...Mais
PUBLICAÇÃO: 2018, FONTE: LANCET GASTROENTEROLOGY & HEPATOLOGY, VOLUME: 3, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef: 76
10
TÍTULO: Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada  Full Text
AUTORES: Taila Hartley; Luca Cavallone; Nelly Sabbaghian; Rachel Silva Smith; Nancy Hamel; Olga Aleynikova; Erika Smith; Valerie Hastings; Pedro Pinto; Marc Tischkowitz; Eva Tomiak; William D Foulkes;
PUBLICAÇÃO: 2014, FONTE: HEREDITARY CANCER IN CLINICAL PRACTICE, VOLUME: 12, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef
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