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TITLE: DISRUPTION OF REGULATORY ELEMENTS IN THE CDH1 VICINITY AS A POTENTIAL HDGC CAUSE, INCREASED PENETRANCE AND EARLY ONSET CANCER  Full Text
AUTHORS: 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.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
3
TITLE: GERMLINE COPY NUMBER VARIANTS: AN UNDERREPORTED GENETIC DIAGNOSIS IN GASTROINTESTINAL TUMOUR RISK SYNDROME SUSPECTED INDIVIDUALS  Full Text
AUTHORS: 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;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
4
TITLE: Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
AUTHORS: Carvalho, J; Oliveira, P; Senz, J; Sao Jose, C; Hansford, S; Teles, SP; Ferreira, M; Corso, G; Pinheiro, H; Lemos, D; Pascale, V; Roviello, F; Huntsman, D; Oliveira, C;
PUBLISHED: 2021, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 58, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
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TITLE: DNA hypermethylation within TERT promoter upregulates TERT expression in cancer
AUTHORS: Donghyun D Lee; Ricardo Leao; Martin Komosa; Marco Gallo; Cindy H Zhang; Tatiana Lipman; Marc Remke; Abolfazl Heidari; Nuno Miguel Nunes; Joana D Apolonio; Aryeh J Price; Ramon Andrade De Mello; Joao S Dias; David Huntsman; Thomas Hermanns; Peter J Wild; Robert Vanner; Gelareh Zadeh; Jason Karamchandani; Sunit Das; Michael D Taylor; Cynthia E Hawkins; Jonathan D Wasserman; Arnaldo Figueiredo; Robert J Hamilton; Mark D Minden; Khalida Wani; Bill Diplas; Hai Yan; Kenneth Aldape; Mohammad R Akbari; Arnavaz Danesh; Trevor J Pugh; Peter B Dirks; Pedro Castelo Branco; Uri Tabori; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 129, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: lntronic cis-regulatory elements regulate CDH1 gene expression and, function  Full Text
AUTHORS: Rita Matos; Barbara Mesquita; Patricia Oliveira; Sofia Valente; Hugo Pinheiro; Joana Carvalho; Anabela Ferro; David Huntsman; Carla Oliveira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
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TITLE: Familial Intestinal Gastric Cancer: a polygenic or a monogenic disease?
AUTHORS: Sao Jose, C; Carvalho, J; Pinheiro, H; Oliveira, P; Senz, J; Hansford, S; Valente, AS; Lemos, D; Roviello, F; Huntsman, D; Oliveira, C;
PUBLISHED: 2019, SOURCE: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27
INDEXED IN: WOS
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TITLE: Developing a Highly Specific Biomarker for Germ Cell Malignancies: Plasma miR371 Expression Across the Germ Cell Malignancy Spectrum
AUTHORS: Lucia Nappi; Marisa Thi; Amy Lum; David Huntsman; Bernie J Eigl; Christopher Martin; Brock O'Neil; Benjamin L Maughan; Kim Chi; Alan So; Peter C Black; Martin Gleave; Alex W Wyatt; Jean Michel Lavoie; Daniel Khalaf; Robert Bell; Siamak Daneshmand; Robert J Hamilton; Ricardo R N Leao; Craig Nichols; Christian Kollmannsberger; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF CLINICAL ONCOLOGY, VOLUME: 37, ISSUE: 33
INDEXED IN: Scopus WOS
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TITLE: Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants  Full Text
AUTHORS: Kristy Lee; Kate Krempely; Maegan E Roberts; Michael J Anderson; Fatima Carneiro ; Elizabeth Chao; Katherine Dixon; Joana Figueiredo; Rajarshi Ghosh; David Huntsman; Pardeep Kaurah; Chimene Kesserwan; Tyler Landrith; Shuwei W Li; Arjen R Mensenkamp; Carla Oliveira; Carolina Pardo; Tina Pesaran; Matthew Richardson; Thomas P Slavin; Amanda B Spurdle; Mackenzie Trapp; Leora Witkowski; Charles S Yi; Liying Y Zhang; Sharon E Plon; Kasmintan A Schrader; Rachid Karam; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 91
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TITLE: Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
AUTHORS: Jun Li; Susan L Woods; Sue Healey; Jonathan Beesley; Xiaoqing Q Chen; Jason S Lee; Haran Sivakumaran; Nicci Wayte; Katia Nones; Joshua J Waterfall; John Pearson; Anne Marie Patch; Janine Senz; Manuel A Ferreira; Pardeep Kaurah; Robertson Mackenzie; Alireza Heravi Moussavi; Samantha Hansford; Tamsin R M Lannagan; Amanda B Spurdle; Peter T Simpson; Leonard da Silva; Sunil R Lakhani; Andrew D Clouston; Mark Bettington; Florian Grimpen; Rita A Busuttil; Natasha Di Costanzo; Alex Boussioutas; Marie Jeanjean; George Chong; Aurelie Fabre; Sylviane Olschwang; Geoffrey J Faulkner; Evangelos Bellos; Lachlan Coin; Kevin Rioux; Oliver F Bathe; Xiaogang G Wen; Hilary C Martin; Deborah W Neklason; Sean R Davis; Robert L Walker; Kathleen A Calzone; Itzhak Avital; Theo Heller; Christopher Koh; Marbin Pineda; Udo Rudloff; Martha Quezado; Pavel N Pichurin; Peter J Hulick; Scott M Weissman; Anna Newlin; Wendy S Rubinstein; Jone E Sampson; Kelly Hamman; David Goldgar; Nicola Poplawski; Kerry Phillips; Lyn Schofield; Jacqueline Armstrong; Cathy Kiraly Borri; Graeme K Suthers; David G Huntsman; William D Foulkes; Fatima Carneiro ; Noralane M Lindor; Stacey L Edwards; Juliet D French; Nicola Waddell; Paul S Meltzer; Daniel L Worthley; Kasmintan A Schrader; Georgia Chenevix Trench; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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