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Gut, ISSN 0017-5749, 06/2013, Volume 62, Issue 6, pp. 812 - 823
Journal Article
2004, American journal of medical genetics., Volume 129C, no. 1., 99
Book
Human Mutation, ISSN 1059-7794, 01/2011, Volume 32, Issue 1, pp. v - v
No abstract is available for this article. 
Genetic Variation | Models, Genetic | DNA Mismatch Repair - genetics | Humans
Journal Article
Journal Article
Gut, ISSN 0017-5749, 07/2018, Volume 67, Issue 7, pp. 1306 - 1316
Journal Article
by Thompson, Bryony A and Spurdle, Amanda B and Plazzer, John-Paul and Greenblatt, Marc S and Akagi, Kiwamu and Al-Mulla, Fahd and Bapat, Bharati and Bernstein, Inge and Capellá, Gabriel and den Dunnen, Johan T and du Sart, Desiree and Fabre, Aurelie and Farrell, Michael P and Farrington, Susan M and Frayling, Ian M and Frebourg, Thierry and Goldgar, David E and Heinen, Christopher D and Holinski-Feder, Elke and Kohonen-Corish, Maija and Robinson, Kristina Lagerstedt and Leung, Suet Yi and Martins, Alexana and Moller, Pal and Morak, Monika and Nystrom, Minna and Peltomaki, Paivi and Pineda, Marta and Qi, Ming and Ramesar, Rajkumar and Rasmussen, Lene Juel and Royer-Pokora, Brigitte and Scott, Rodney J and Sijmons, Rolf and Tavtigian, Sean V and Tops, Carli M and Weber, Thomas and Wijnen, Juul and Woods, Michael O and Macrae, Finlay and Genuardi, Maurizio and Castillejo, Adela and Sexton, Aienne and Chan, Anthony K. W and Viel, Alessana and Blanco, Amie and French, Amy and Laner, Aneas and Wagner, Anja and van den Ouweland, Ans and Mensenkamp, Arjen and Payá, Artemio and Betz, Beate and Redeker, Bert and Smith, Betsy and Espenschied, Carin and Cummings, Carole and Engel, Christoph and Fornes, Claudia and Valenzuela, Cristian and Alenda, Cristina and Buchanan, Daniel and Barana, Daniela and Konstantinova, Darina and Cairns, Dianne and Glaser, Elizabeth and Silva, Felipe and Lalloo, Fiona and Crucianelli, Francesca and Hogervorst, Frans and Casey, Graham and Tomlinson, Ian and Blanco, Ignacio and Villar, Isabel López and Garcia-Planells, Javier and Bigler, Jeanette and Shia, Jinru and Martinez-Lopez, Joaquin and Gille, Johan J. P and Hopper, John and Potter, John and Soto, José Luis and Kantelinen, Jukka and Ellis, Kate and Mann, Kirsty and Varesco, Liliana and Zhang, Liying and Le Marchand, Loic and Marafie, Makia J and Nordling, Margareta and Tibiletti, Maria Grazia and Kahan, Mariano Ariel and Ligtenberg, Marjolijn and Clendenning, Mark and Jenkins, Mark and Speevak, Marsha and Digweed, Martin and Kloor, Matthias and Hitchins, Megan and Myers, Megan and ... and InSiGHT and on behalf of InSiGHT and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 9, pp. 1361 - 1368
PFAPA is an autoinflammatory syndrome characterized by periodic fever, aphthous stomatitis, sterile pharingitis, and adenitis, with an onset usually before the... 
DISORDER | CERVICAL ADENITIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TIFA | GENETICS & HEREDITY | Aphthous stomatitis | Stomatitis | Animal breeding | Pedigree | Adenitis | Forkhead protein | Foot-and-mouth disease | Heptose | Pharyngitis | Fever
Journal Article
Gut, ISSN 0017-5749, 09/2017, Volume 66, Issue 9, pp. 1657 - 1664
Journal Article
Familial Cancer, ISSN 1389-9600, 10/2019, Volume 18, Issue 4, pp. 421 - 427
Muir–Torre syndrome (MTS) is clinically characterized by the occurrence of skin, usually sebaceous, and visceral tumors in the same individual. The most common... 
Human Genetics | Biomedicine, general | Immunohistochemistry | Biomedicine | Molecular diagnosis | Genetic test | Mismatch repair | Cancer Research | Microsatellite instability | Epidemiology | Skin | Skin cancer | MSH6 protein | Phenotypes | Phenotypic variations | MSH2 protein | Tumors
Journal Article
Oncotarget, ISSN 1949-2553, 01/2015, Volume 6, Issue 40, pp. 42892 - 42904
textabstractThe DNA glycosylase gene MBD4 safeguards genomic stability at CpG sites and is frequently mutated at coding poly-A tracks in mismatch repair... 
HNPCC | Mutations | Mismatch repair | MBD4/MED1 | Colorectal cancer
Journal Article