Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and MBD4[original query] |
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| Single nucleotide polymorphism in the methyl-CpG binding domain 4 gene and the risk for immune thrombocytopenic purpura in Chinese population. Platelets 2010 21 (2): 132-6. Zhao Haifeng, Du Weiting, Wang Donghai, Gu Dongsheng, Xue Feng, Ge Jing, Sui Tao, Yang Renc |
| Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors. Nature communications 2018 5 9 (1): 1866. Rodrigues Manuel, Mobuchon Lenha, Houy Alexandre, Fiévet Alice, Gardrat Sophie, Barnhill Raymond L, Popova Tatiana, Servois Vincent, Rampanou Aurore, Mouton Aurore, Dayot Stéphane, Raynal Virginie, Galut Michèle, Putterman Marc, Tick Sarah, Cassoux Nathalie, Roman-Roman Sergio, Bidard François-Clément, Lantz Olivier, Mariani Pascale, Piperno-Neumann Sophie, Stern Marc-Hen |
| In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction. Molecular biology reports 2019 Apr . Kumari Niti, Kumar Aman, Pal Amit, Thapa Babu Ram, Modi Manish, Prasad Rajend |
| Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab. Immunogenetics 2019 2 71 (5-6): 433-436. Johansson Peter A, Stark Andrew, Palmer Jane M, Bigby Kieron, Brooks Kelly, Rolfe Olivia, Pritchard Antonia L, Whitehead Kevin, Warrier Sunil, Glasson William, Hayward Nicholas |
| Female adnexal tumors of probable Wolffian origin: morphological, immunohistochemical, and molecular analysis of 15 cases. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 10 33 (4): 734-747. Bennett Jennifer A, Ritterhouse Lauren L, Furtado Larissa V, Lastra Ricardo R, Pesci Anna, Newell Jordan M, Burandt Eike, Kooreman Loes, Van de Vijver Koen, Krausz Thomas, Felix Ana, Zannoni Gian Franco, Young Robert H, Oliva Esth |
| MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients. European journal of cancer (Oxford, England : 1990) 2022 Jul 173 105-112. Saint-Ghislain Mathilde, Derrien Anne-Céline, Geoffrois Lionnel, Gastaud Lauris, Lesimple Thierry, Negrier Sylvie, Penel Nicolas, Kurtz Jean-Emmanuel, Le Corre Yannick, Dutriaux Caroline, Gardrat Sophie, Barnhill Raymond, Matet Alexandre, Cassoux Nathalie, Houy Alexandre, Ramtohul Toulsie, Servois Vincent, Mariani Pascale, Piperno-Neumann Sophie, Stern Marc-Henri, Rodrigues Manu |
| Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. American journal of human genetics 2022 4 109 (5): 953-960. Palles Claire, West Hannah D, Chew Edward, Galavotti Sara, Flensburg Christoffer, Grolleman Judith E, Jansen Erik A M, Curley Helen, Chegwidden Laura, Arbe-Barnes Edward H, Lander Nicola, Truscott Rebekah, Pagan Judith, Bajel Ashish, Sherwood Kitty, Martin Lynn, Thomas Huw, Georgiou Demetra, Fostira Florentia, Goldberg Yael, Adams David J, van der Biezen Simone A M, Christie Michael, Clendenning Mark, Thomas Laura E, Deltas Constantinos, Dimovski Aleksandar J, Dymerska Dagmara, Lubinski Jan, Mahmood Khalid, van der Post Rachel S, Sanders Mathijs, Weitz Jürgen, Taylor Jenny C, Turnbull Clare, Vreede Lilian, van Wezel Tom, Whalley Celina, Arnedo-Pac Claudia, Caravagna Giulio, Cross William, Chubb Daniel, Frangou Anna, Gruber Andreas J, Kinnersley Ben, Noyvert Boris, Church David, Graham Trevor, Houlston Richard, Lopez-Bigas Nuria, Sottoriva Andrea, Wedge David, , , , Jenkins Mark A, Kuiper Roland P, Roberts Andrew W, Cheadle Jeremy P, Ligtenberg Marjolijn J L, Hoogerbrugge Nicoline, Koelzer Viktor H, Rivas Andres Dacal, Winship Ingrid M, Ponte Clara Ruiz, Buchanan Daniel D, Power Derek G, Green Andrew, Tomlinson Ian P M, Sampson Julian R, Majewski Ian J, de Voer Richarda |
| MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes. European journal of human genetics : EJHG 2023 7 . Mariona Terradas, Noemi Gonzalez-Abuin, Sandra García-Mulero, Julen Viana-Errasti, Gemma Aiza, Josep M Piulats, Joan Brunet, Gabriel Capellá, Laura Val |
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