HuGE Literature Finder
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Records 1-54
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Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.
Diseases of the colon and rectum 2019 Jan . El Hachem Noha, Abadie Caroline, Longy Michel, Colas Chrystelle, Fert-Ferrer Sandra, Leroux Dominique, Grandval Philippe, Prieur Fabienne, Collonge-Rame MarieAgnes, Faivre Laurence, Fricker J P, Zerbib Frank, Coupier Isabelle, Cauchin Estelle, Pinson Stephane, Saurin Jean Christop |
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Synonymous mutation adenomatous polyposis coli?486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation?negative familial adenomatous polyposis.
Molecular medicine reports 2018 Sep . Liu Wei Qing, Dong Jian, Peng Yan Xia, Li Wen Liang, Yang J |
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Characteristics of MUTYH variants in Japanese colorectal polyposis patients.
International journal of clinical oncology 2018 Jun 23 (3): 497-503. Takao Misato, Yamaguchi Tatsuro, Eguchi Hidetaka, Tada Yuhki, Kohda Masakazu, Koizumi Koichi, Horiguchi Shin-Ichiro, Okazaki Yasushi, Ishida Hideyu |
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Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Scientific reports 2017 May 7 (1): 2214. Khan Nikhat, Lipsa Anuja, Arunachal Gautham, Ramadwar Mukta, Sarin Raj |
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Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.
The Journal of molecular diagnostics : JMD 2017 07 19 (4): 589-601. Rey Jean-Marc, Ducros Vincent, Pujol Pascal, Wang Qing, Buisine Marie-Pierre, Aissaoui Hanaa, Maudelonde Thierry, Olschwang Sylvia |
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Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.
Genetic testing and molecular biomarkers 2016 Oct . Marabelli Monica, Molinaro Valeria, Abou Khouzam Raefa, Berrino Enrico, Panero Mara, Balsamo Antonella, Venesio Tiziana, Ranzani Guglielmina Nad |
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Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Familial cancer 2016 Jan . Spier Isabel, Kerick Martin, Drichel Dmitriy, Horpaopan Sukanya, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Adam Ronja, Zhao Bixiao, Becker Tim, Lifton Richard P, Holinski-Feder Elke, Perner Sven, Thiele Holger, Nöthen Markus M, Hoffmann Per, Timmermann Bernd, Schweiger Michal R, Aretz Stef |
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Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients.
Familial cancer 2015 Dec . Taki Keiko, Sato Yuri, Nomura Sachio, Ashihara Yuumi, Kita Mizuho, Tajima Ikufumi, Sugano Kokichi, Arai Masa |
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Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
Journal of medical genetics 2015 Nov . Spier Isabel, Drichel Dmitriy, Kerick Martin, Kirfel Jutta, Horpaopan Sukanya, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Adam Ronja, Zhao Bixiao, Becker Tim, Lifton Richard P, Perner Sven, Hoffmann Per, Kristiansen Glen, Timmermann Bernd, Nöthen Markus M, Holinski-Feder Elke, Schweiger Michal R, Aretz Stef |
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Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Familial cancer 2015 Oct . Papp Janos, Kovacs Marietta Eva, Matrai Zoltan, Orosz Enik?, Kásler Miklós, Børresen-Dale Anne-Lise, Olah Edi |
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Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: Somatic landscape and driver genes.
The Journal of pathology 2015 Sep . Rashid Mamunur, Fischer Andrej, Wilson Cathy H, Tiffen Jessamy, Rust Alistair G, Stevens Philip, Idziaszczyk Shelley, Maynard Julie, Williams Geraint T, Mustonen Ville, Sampson Julian R, Adams David |
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Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers: results from a cohort of North-African Jews.
Familial cancer 2015 Sep 14 (3): 427-36. Rosner Guy, Bercovich Dani, Daniel Yael Etzion, Strul Hana, Fliss-Isakov Naomi, Ben-Yehoiada Meirav, Santo Erwin, Halpern Zamir, Kariv Revit |
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Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis.
Journal of molecular medicine (Berlin, Germany) 2015 Jul . Errichiello Edoardo, Balsamo Antonella, Cerni Marianna, Venesio Tizia |
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High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Familial cancer 2015 Jun 14 (2): 247-57. Out Astrid A, van Minderhout Ivonne J H M, van der Stoep Nienke, van Bommel Lysette S R, Kluijt Irma, Aalfs Cora, Voorendt Marsha, Vossen Rolf H A M, Nielsen Maartje, Vasen Hans F A, Morreau Hans, Devilee Peter, Tops Carli M J, Hes Frederik |
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Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
International journal of cancer. Journal international du cancer 2015 Mar 136 (6): E578-89. Horpaopan Sukanya, Spier Isabel, Zink Alexander M, Altmüller Janine, Holzapfel Stefanie, Laner Andreas, Vogt Stefanie, Uhlhaas Siegfried, Heilmann Stefanie, Stienen Dietlinde, Pasternack Sandra M, Keppler Kathleen, Adam Ronja, Kayser Katrin, Moebus Susanne, Draaken Markus, Degenhardt Franziska, Engels Hartmut, Hofmann Andrea, Nöthen Markus M, Steinke Verena, Perez-Bouza Alberto, Herms Stefan, Holinski-Feder Elke, Fröhlich Holger, Thiele Holger, Hoffmann Per, Aretz Stef |
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Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jan . Inra Jennifer A, Steyerberg Ewout W, Grover Shilpa, McFarland Ashley, Syngal Sapna, Kastrinos F |
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Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.
Clinical cancer research : an official journal of the American Association for Cancer Research 2014 Mar 20 (5): 1158-68. Guarinos Carla, Juárez Miriam, Egoavil Cecilia, Rodríguez-Soler María, Pérez-Carbonell Lucía, Salas Ramón, Cubiella Joaquín, Rodríguez-Moranta Francisco, de-Castro Luisa, Bujanda Luis, Serradesanferm Anna, Nicolás-Pérez David, Herráiz Maite, Fernández-Bañares Fernando, Herreros-de-Tejada Alberto, Aguirre Elena, Balmaña Judith, Rincón María-Luisa, Pizarro Angeles, Polo-Ortiz Francisco, Castillejo Adela, Alenda Cristina, Payá Artemio, Soto José-Luis, Jover Rodri |
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Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.
Scandinavian journal of gastroenterology 2013 Jun 48 (6): 672-8. Tanskanen Tomas, Gylfe Alexandra E, Katainen Riku, Taipale Minna, Renkonen-Sinisalo Laura, Mecklin Jukka-Pekka, Järvinen Heikki, Tuupanen Sari, Kilpivaara Outi, Vahteristo Pia, Aaltonen Lauri |
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Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.
Familial cancer 2013 Mar 12 (1): 43-50. Knopperts A P, Nielsen M, Niessen R C, Tops C M J, Jorritsma B, Varkevisser J, Wijnen J, Siezen C L E, Heine-Bröring R C, van Kranen H J, Vos Y J, Westers H, Kampman E, Sijmons R H, Hes F |
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Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.
Techniques in coloproctology 2013 Feb 17 (1): 79-87. de Leon M Ponz, Urso E D L, Pucciarelli S, Agostini M, Nitti D, Roncucci L, Benatti P, Pedroni M, Kaleci S, Balsamo A, Laudi C, Di Gregorio C, Viel A, Rossi G, Venesio |
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High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
Familial cancer 2012 Sep 11 (3): 503-8. Abdelmaksoud-Dammak Rania, Miladi-Abdennadher Imen, Amouri Ali, Tahri Nabil, Ayadi Lobna, Khabir Abdelmajid, Frikha Foued, Gargouri Ali, Mokdad-Gargouri Ra |
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Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas.
JAMA 2012 Aug 308 (5): 485-92. Grover Shilpa, Kastrinos Fay, Steyerberg Ewout W, Cook E Francis, Dewanwala Akriti, Burbidge Lynn Anne, Wenstrup Richard J, Syngal Sap |
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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
The Journal of molecular diagnostics : JMD 2012 Jul 14 (4): 357-66. Pritchard Colin C, Smith Christina, Salipante Stephen J, Lee Ming K, Thornton Anne M, Nord Alex S, Gulden Cassandra, Kupfer Sonia S, Swisher Elizabeth M, Bennett Robin L, Novetsky Akiva P, Jarvik Gail P, Olopade Olufunmilayo I, Goodfellow Paul J, King Mary-Claire, Tait Jonathan F, Walsh T |
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MUTYH hotspot mutations in unselected colonoscopy patients.
Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2012 May 14 (5): e238-44. Casper M, Plotz G, Juengling B, Zeuzem S, Lammert F, Raedle |
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The first mutations in the MYH gene reported in Moroccan colon cancer patients.
Gene 2012 Mar 496 (1): 55-8. Laarabi F Z, Cherkaoui Jaouad I, Baert-Desurmont S, Ouldim K, Ibrahimi A, Kanouni N, Frebourg T, Sefiani |
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Genotype-phenotype correlation in colorectal polyposis.
Clinical genetics 2011 Jun . Newton K, Mallinson E, Bowen J, Lalloo F, Clancy T, Hill J, Evans D |
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Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco.
Annals of human biology 2011 May 38 (3): 360-3. Laarabi F Z, Cherkaoui Jaouad I, Benazzouz A, Squalli D, Sefiani |
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Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2011 Apr 22 (4): 903-9. Rivera B, González S, Sánchez-Tomé E, Blanco I, Mercadillo F, Letón R, Benítez J, Robledo M, Capellá G, Urioste |
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Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
Breast cancer research and treatment 2010 Dec 124 (3): 635-41. Wasielewski Marijke, Out Astrid A, Vermeulen Joyce, Nielsen Maartje, van den Ouweland Ans, Tops Carli M J, Wijnen Juul T, Vasen Hans F A, Weiss Marjan M, Klijn Jan G M, Devilee Peter, Hes Frederik J, Schutte Mie |
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MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
Clinical genetics 2010 Oct 78 (4): 353-63. Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder |
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Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.
Familial cancer 2010 Jun 9 (2): 117-24. Chiang J M, Chen H W, Tang R P, Chen J S, Changchien C R, Hsieh P S, Wang J |
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APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
Clinical genetics 2009 Sep 76 (3): 242-55. Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão |
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Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis.
Scandinavian journal of gastroenterology 2009 Jul . Pezzi A, Roncucci L, Benatti P, Sassatelli R, Varesco L, Di Gregorio C, Venesio T, Pedroni M, Maffei S, Reggiani Bonetti L, Borsi E, Ferrari M, Martella P, Rossi G, Ponz de Leon M |
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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
BMC medical genetics 2009 10 . Gómez-Fernández N, Castellví-Bel S, Fernández-Rozadilla C, Balaguer F, Muñoz J, Madrigal I, Milà M, Graña B, Vega A, Castells A, Carracedo A, Ruiz-Ponte C |
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Mutations of the MYH gene do not substantially contribute to the risk of breast cancer.
Breast cancer research and treatment 2009 Apr 114 (3): 575-8. Beiner Mario E, Zhang William W, Zhang Shiyu, Gallinger Steven, Sun Ping, Narod Steven |
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Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.
Diseases of the colon and rectum 2009 Feb 52 (2): 268-74. De Rosa Marina, Galatola Martina, Borriello Santa, Duraturo Francesca, Masone Stefania, Izzo Pao |
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Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.
BMC cancer 2009 9 (1): 184. Nielsen Maartje, de Miranda Noel F C C, van Puijenbroek Marjo, Jordanova Ekaterina S, Middeldorp Anneke, van Wezel Tom, van Eijk Ronald, Tops Carli M J, Vasen Hans F A, Hes Frederik J, Morreau Ha |
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Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.
Diseases of the colon and rectum 2008 Oct 51 (10): 1467-73; discussion 1473-4. Cleary Sean P, Kim Hyeja, Croitoru Marina E, Redston Mark, Knight Julia A, Gallinger Steven, Gryfe Robe |
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Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
Gut 2008 Sep 57 (9): 1252-5. Dallosso A R, Dolwani S, Jones N, Jones S, Colley J, Maynard J, Idziaszczyk S, Humphreys V, Arnold J, Donaldson A, Eccles D, Ellis A, Evans D G, Frayling I M, Hes F J, Houlston R S, Maher E R, Nielsen M, Parry S, Tyler E, Moskvina V, Cheadle J P, Sampson J |
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Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.
Clinical genetics 2008 Jun 73 (6): 545-53. Yanaru-Fujisawa R, Matsumoto T, Ushijima Y, Esaki M, Hirahashi M, Gushima M, Yao T, Nakabeppu Y, Iida |
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Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.
Clinical cancer research : an official journal of the American Association for Cancer Research 2008 Jan 14 (1): 139-42. van Puijenbroek Marjo, Nielsen Maartje, Tops Carli M J, Halfwerk Hans, Vasen Hans F A, Weiss Marjan M, van Wezel Tom, Hes Frederik J, Morreau Ha |
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Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
Genetics in medicine : official journal of the American College of Medical Genetics 2007 Dec 9 (12): 836-41. Cattaneo Francesca, Molatore Sara, Mihalatos Markos, Apessos Angela, Venesio Tiziana, Bione Silvia, Grignani Pierangela, Nasioulas Georgios, Ranzani Guglielmina Nad |
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Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.
International journal of colorectal disease 2007 Oct 22 (10): 1173-8. Kim Duck-Woo, Kim Il-Jin, Kang Hio-Chung, Jang Sang-Geun, Kim Kun, Yoon Hyun-Ju, Ahn Sun-A, Han Song Yee, Hong Seung-Hyun, Hwang Jung-A, Sohn Dae Kyung, Jeong Seung-Yong, Choi Hyo Seong, Hong Chang Won, Lim Seok-Byung, Park Jae-Ga |
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Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
Clinical genetics 2007 May 71 (5): 427-33. Nielsen M, Hes F J, Nagengast F M, Weiss M M, Mathus-Vliegen E M, Morreau H, Breuning M H, Wijnen J T, Tops C M J, Vasen H F |
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Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
International journal of cancer. Journal international du cancer 2006 Apr 118 (8): 1937-40. Russell Anna M, Zhang Jian, Luz Judith, Hutter Pierre, Chappuis Pierre O, Berthod Claudine Rey, Maillet Philippe, Mueller Hansjakob, Heinimann Ka |
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A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.
Human mutation 2005 Oct 26 (4): 393. Alhopuro P, Parker AR, Lehtonen R, Enholm S, Järvinen HJ, Mecklin JP, Karhu A, Eshleman JR, Aaltonen LA |
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Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.
Mutation research 2005 Oct 578 (1-2): 430-3. Miyaki Michiko, Iijima Takeru, Yamaguchi Tatsuro, Hishima Tsunekazu, Tamura Kazuo, Utsunomiya Joji, Mori Tak |
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Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.
International journal of cancer. Journal international du cancer 2005 Aug 116 (1): 73-7. Kairupan Carla F, Meldrum Cliff J, Crooks Renee, Milward Elizabeth A, Spigelman Allan D, Burgess Bronwyn, Groombridge Claire, Kirk Judy, Tucker Kathy, Ward Robyn, Williams Rachel, Scott Rodney |
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Germline susceptibility to colorectal cancer due to base-excision repair gene defects.
American journal of human genetics 2005 Jul 77 (1): 112-9. Farrington Susan M, Tenesa Albert, Barnetson Rebecca, Wiltshire Alice, Prendergast James, Porteous Mary, Campbell Harry, Dunlop Malcolm |
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Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.
Journal of the National Cancer Institute 2004 Nov 96 (21): 1631-4. Croitoru Marina E, Cleary Sean P, Di Nicola Nando, Manno Michael, Selander Teresa, Aronson Melyssa, Redston Mark, Cotterchio Michelle, Knight Julia, Gryfe Robert, Gallinger Stev |
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Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients.
Human genetics 2004 Nov 115 (6): 498-503. Kim I-J, Ku J-L, Kang H C, Park J-H, Yoon K-A, Shin Y, Park H-W, Jang S G, Lim S-K, Han S Y, Shin Y-K, Lee M R, Jeong S-Y, Shin H-R, Lee J S, Kim W-H, Park J |
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MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.
Gastroenterology 2004 Jul 127 (1): 9-16. Wang Liang, Baudhuin Linnea M, Boardman Lisa A, Steenblock Kelle J, Petersen Gloria M, Halling Kevin C, French Amy J, Johnson Ruth A, Burgart Lawrence J, Rabe Kari, Lindor Noralane M, Thibodeau Stephen |
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Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
International journal of cancer. Journal international du cancer 2004 May 109 (5): 680-4. Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, Viel A, Fornasarig M, Arrigoni A, Gentile M, Ponz de Leon M, Anselmi L, Mareni C, Bruzzi P, Varesco L |
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Somatic c.34G>T KRAS mutation: a new prescreening test for MUTYH-associated polyposis?
Cancer genetics 0 208 (7-8): 390-5. Aimé Adeline, Coulet Florence, Lefevre Jeremie H, Colas Chrystelle, Cervera Pascale, Flejou Jean-François, Lascols Olivier, Soubrier Florent, Parc Ya |
- Page last reviewed:Jul 30, 2019
- Page last updated:Oct 10, 2019
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