HuGE Literature Finder
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Records 1-91
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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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Cribriform-Morular Variant of Papillary Thyroid Carcinoma: Clinical and Pathological Features of 30 Cases.
World journal of surgery 2018 Apr . Akaishi Junko, Kondo Tetsuo, Sugino Kiminori, Ogimi Yuna, Masaki Chie, Hames Kiyomi Y, Yabuta Tomonori, Tomoda Chisato, Suzuki Akifumi, Matsuzu Kenichi, Uruno Takashi, Ohkuwa Keiko, Kitagawa Wataru, Nagahama Mitsuji, Katoh Ryohei, Ito Koic |
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Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis.
Familial cancer 2018 Apr . Chenbhanich Jirat, Atsawarungruangkit Amporn, Korpaisarn Sira, Phupitakphol Tanit, Osataphan Soravis, Phowthongkum Pras |
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Characteristics of Adrenal Masses in Familial Adenomatous Polyposis.
Diseases of the colon and rectum 2018 Jan . Shiroky Jonah S, Lerner-Ellis Jordan P, Govindarajan Anand, Urbach David R, Devon Karen |
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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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Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.
Gastroenterology 2016 Nov . Jansen Anne M L, Crobach Stijn, Geurts-Giele Willemina R R, van den Akker Brendy E W M, Garcia Marina Ventayol, Ruano Dina, Nielsen Maartje, Tops Carli M J, Wijnen Juul T, Hes Frederik J, van Wezel Tom, Dinjens Winand N M, Morreau Ha |
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Age- and Gender-Specific Risk of Thyroid Cancer in Patients with Familial Adenomatous Polyposis.
The Journal of clinical endocrinology and metabolism 2016 Sep jc20162043. Uchino Shinya, Ishikawa Hideki, Miyauchi Akira, Hirokawa Mitsuyoshi, Noguchi Shiro, Ushiama Mineko, Yoshida Teruhiko, Michikura Masahito, Sugano Kokichi, Sakai Toshiyu |
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Two subtypes of colorectal tumor with distinct molecular features in familial adenomatous polyposis.
Oncotarget 2016 Aug . Takane Kiyoko, Matsusaka Keisuke, Ota Satoshi, Fukuyo Masaki, Yue Yao, Nishimura Motoi, Sakai Eiji, Matsushita Kazuyuki, Miyauchi Hideaki, Aburatani Hiroyuki, Nakatani Yukio, Takayama Tadatoshi, Matsubara Hisahiro, Akagi Kiwamu, Kaneda Atsus |
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Clinicopathological features of familial adenomatous polyposis in Korean patients.
World journal of gastroenterology 2016 May 22 (17): 4380-8. Jung Sung Min, Yoon Yong Sik, Lim Seok-Byeong, Yu Chang Sik, Kim Jin Che |
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Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.
Familial cancer 2016 Feb . Ghorbanoghli Z, Nieuwenhuis M H, Houwing-Duistermaat J J, Jagmohan-Changur S, Hes F J, Tops C M, Wagner A, Aalfs C M, Verhoef S, Gómez García E B, Sijmons R H, Menko F H, Letteboer T G, Hoogerbrugge N, van Wezel T, Vasen H F A, Wijnen J |
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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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Association of CD24 and the adenomatous polyposis coli gene polymorphisms with oral lichen planus.
Oral surgery, oral medicine, oral pathology and oral radiology 2015 Sep 120 (3): 378-85. Kaplan Ilana, Nabiochtchikov Ilana, Leshno Ari, Moshkowitz Menachem, Shlomi Benjamin, Kleinman Shlomi, Dagan Yaniv, Meshiach Yaacob, Galazan Lior, Arber Nadir, Avivi-Arber Limor, Kraus Sar |
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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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Wireless capsule endoscopy in adolescents with familial adenomatous polyposis.
Tumori 2015 Jul 0 (0): 0. Cavallo Debora, Ballardini Giovanni, Ferrari Andrea, Delconte Gabriele, Signoroni Stefano, Sala Paola, Chiaravalli Stefano, Massimino Maura, Bertario Lucio, Vitellaro Mar |
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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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Desmoids and genotype in familial adenomatous polyposis.
Diseases of the colon and rectum 2015 Apr 58 (4): 444-8. Church James, Xhaja Xhileta, LaGuardia Lisa, O'Malley Margaret, Burke Carol, Kalady Matth |
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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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Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.
European journal of human genetics : EJHG 2015 Feb 23 (2): 260-3. Cheng Timothy H T, Gorman Maggie, Martin Lynn, Barclay Ella, Casey Graham, , , Saunders Brian, Thomas Huw, Clark Sue, Tomlinson I |
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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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Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis.
Genes, chromosomes & cancer 2014 Oct 53 (10): 857-64. Pavicic Walter, Nieminen Taina T, Gylling Annette, Pursiheimo Juha-Pekka, Laiho Asta, Gyenesei Attila, Järvinen Heikki J, Peltomäki Päi |
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APC germline mutations in families with familial adenomatous polyposis.
Oncology reports 2013 Nov 30 (5): 2081-8. De Queiroz Rossanese Lillian Barbosa, De Lima Marson Fernando Augusto, Ribeiro José Dirceu, Coy Claudio Saddy Rodrigues, Bertuzzo Carmen Silv |
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Different APC genotypes in proximal and distal sporadic colorectal cancers suggest distinct WNT/?-catenin signalling thresholds for tumourigenesis.
Oncogene 2013 Sep 32 (39): 4675-82. Christie M, Jorissen R N, Mouradov D, Sakthianandeswaren A, Li S, Day F, Tsui C, Lipton L, Desai J, Jones I T, McLaughlin S, Ward R L, Hawkins N J, Ruszkiewicz A R, Moore J, Burgess A W, Busam D, Zhao Q, Strausberg R L, Simpson A J, Tomlinson I P M, Gibbs P, Sieber O |
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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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Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.
Familial cancer 2013 Mar 12 (1): 35-42. Schwarzová Lucie, Štekrová Jitka, Florianová Martina, Novotný Aleš, Schneiderová Michaela, Ln?ni?ka Petr, Kebrdlová V?ra, Kotlas Jaroslav, Veselá Kamila, Kohoutová Mila |
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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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APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous Polyposis: A Review of the Mayo Clinic Experience with 1591 Consecutive Tests.
The Journal of molecular diagnostics : JMD 2012 Nov . Kerr SE, Thomas CB, Thibodeau SN, Ferber MJ, Halling KC |
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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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Association of APC and REEP5 gene polymorphisms with major depression disorder and treatment response to antidepressants in a Han Chinese population.
General hospital psychiatry 2012 Jul . Yang Z, Ma X, Wang Y, Wang J, Xiang B, Wu J, Deng W, Li M, Wang Q, Li T |
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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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Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2012 Jun 33 (3): 857-64. Urso E, Agostini M, Pucciarelli S, Rugge M, Bertorelle R, Maretto I, Bedin C, D'Angelo E, Mescoli C, Zorzi M, Viel A, Bruttocao G, Ferraro B, Erroi F, Contin P, De Salvo G L, Nitti |
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APC and KRAS mutations in distal colorectal polyps are related to smoking habits in men: results of a cross-sectional study.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2011 Sep 13 (9): 664-71. Martínez Fernando, Fernández-Martos Carlos, Quintana María Jesús, Castells Antoni, Llombart Antonio, I?iguez Francisco, Guillem Vicente, Dasí Francis |
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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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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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APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010 Dec 25 (12): 2624-32. Miclea Razvan L, Karperien Marcel, Langers Alexandra M, Robanus-Maandag Els C, van Lierop Antoon, van der Hiel Bernies, Stokkel Marcel P, Ballieux Bart E, Oostdijk Wilma, Wit Jan M, Vasen Hans F, Hamdy Neveen |
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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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Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.
European journal of cancer (Oxford, England : 1990) 2010 Sep 46 (13): 2457-66. Wong Hui-Lee, Peters Ulrike, Hayes Richard B, Huang Wen-Yi, Schatzkin Arthur, Bresalier Robert S, Velie Ellen M, Brody Lawrence |
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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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Risk factors predicting intra-abdominal desmoids in familial adenomatous polyposis: a single centre experience.
Techniques in coloproctology 2010 Jun 14 (2): 141-6. Sinha A, Tekkis P P, Neale K F, Phillips R K S, Clark S |
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Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis.
International journal of colorectal disease 2010 Mar 25 (3): 293-301. Umeno Junji, Matsumoto Takayuki, Esaki Motohiro, Kukita Yoji, Tahira Tomoko, Yanaru-Fujisawa Ritsuko, Nakamura Shotaro, Arima Hisatomi, Hirahashi Minako, Hayashi Kenshi, Iida Mits |
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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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Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery.
Diseases of the colon and rectum 2009 Jul 52 (7): 1259-63. Nieuwenhuis Marry H, Bülow Steffen, Björk Jan, Järvinen Heikki J, Bülow Charlotte, Bisgaard Marie Luise, Vasen Hans F |
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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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APC, MYH, and the correlation genotype-phenotype in colorectal polyposis.
Annals of surgical oncology 2009 Apr 16 (4): 871-7. Lefevre Jérémie H, Parc Yann, Svrcek Magali, Kernéis Solen, Colas Chrystelle, Shields Conor, Flejou Jean-François, Parc Rolland, Tiret Emmanu |
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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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Detoxification enzyme polymorphisms are not involved in duodenal adenomatosis in familial adenomatous polyposis.
The British journal of surgery 2008 Apr 95 (4): 499-505. Berkhout M, Roelofs H M J, te Morsche R H M, Dekker E, van Krieken J H J M, Nagengast F M, Peters W H |
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[Single nucleotide c.645+32c>T substitution in the APC gene is a non-pathogenic polymorphism appearing in about 16% of the Czech population].
Casopís lékar?? c?eských 2008 147 (5): 266-8. Plevová P, Drobcinská L, Stekrová J, Silhánová |
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APC gene mutations causing familial adenomatous polyposis in Polish patients.
Journal of applied genetics 2008 49 (4): 407-14. Plawski Andrzej, Slomski Rysza |
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
BMC medicine 2008 6 (1): 10. Kanter-Smoler Gunilla, Fritzell Kaisa, Rohlin Anna, Engwall Yvonne, Hallberg Birgitta, Bergman Annika, Meuller Johan, Grönberg Henrik, Karlsson Per, Björk Jan, Nordling Margare |
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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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Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.
Diseases of the colon and rectum 2007 Oct 50 (10): 1612-7. Bouguen Guillaume, Manfredi Sylvain, Blayau Martine, Dugast Catherine, Buecher Bruno, Bonneau Dominique, Siproudhis Laurent, David Véronique, Bretagne Jean-Franço |
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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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Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients.
European journal of cancer (Oxford, England : 1990) 2007 Jul 43 (10): 1617-21. Sulová M, Zídková K, Kleibl Z, Stekrová J, Kebrdlová V, Bortlík M, Lukás M, Kohoutová |
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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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Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2007 Mar 5 (3): 374-8. Nieuwenhuis Mary H, Mathus-Vliegen Lisbeth M, Slors Frederik J, Griffioen Gerrit, Nagengast Fokko M, Schouten Wim R, Kleibeuker Jan H, Vasen Hans F |
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Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2007 Mar 5 (3): 379-87. Balaguer Francesc, Castellví-Bel Sergi, Castells Antoni, Andreu Montserrat, Muñoz Jenifer, Gisbert Javier P, Llor Xavier, Jover Rodrigo, de Cid Rafael, Gonzalo Victòria, Bessa Xavier, Xicola Rosa M, Pons Elisenda, Alenda Cristina, Payá Artemio, Piqué Josep M, |
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MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas.
Virchows Archiv : an international journal of pathology 2007 Mar 450 (3): 311-9. Kim Jin C, Ka In H, Lee Yoo M, Koo Kum H, Kim Hee C, Yu Chang S, Jang Se J, Kim Yong S, Lee Han I, Lee Kang |
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Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
BMC medical genetics 2007 8 (): 16. Stekrova Jitka, Sulova Martina, Kebrdlova Vera, Zidkova Katerina, Kotlas Jaroslav, Ilencikova Denisa, Vesela Kamila, Kohoutova Mila |
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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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Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.
American journal of medical genetics. Part A 2006 Feb 140 (3): 200-4. Bisgaard Marie Luise, Bülow Steff |
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Colorectal polyps in carriers of the APC I1307K polymorphism.
Diseases of the colon and rectum 2005 Dec 48 (12): 2317-21. Rennert Gad, Almog Ronit, Tomsho Lynn P, Low Marcelo, Pinchev Mila, Chaiter Yoram, Bonner Joseph D, Rennert Hedy S, Greenson Joel K, Gruber Stephen |
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Meat and fish consumption, APC gene mutations and hMLH1 expression in colon and rectal cancer: a prospective cohort study (The Netherlands).
Cancer causes & control : CCC 2005 Nov 16 (9): 1041-54. Lüchtenborg Margreet, Weijenberg Matty P, de Goeij Anton F P M, Wark Petra A, Brink Mirian, Roemen Guido M J M, Lentjes Marjolein H F M, de Bruïne Adriaan P, Goldbohm R Alexandra, van 't Veer Pieter, van den Brandt Piet |
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[Detection of germline mutations in the APC gene with the protein truncation test].
Yi chuan xue bao = Acta genetica Sinica 2005 Sep 32 (9): 903-8. Liu Xiao-Rong, Shan Xiang-Nian, Friedl W, Uhlhaas S, Li Jin-Tian, Propping P, Wang Ya-Pi |
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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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APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005 Apr 14 (4): 863-70. Tranah Gregory J, Giovannucci Edward, Ma Jing, Fuchs Charles, Hunter David |
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The I1307K APC mutation in a high-risk clinic setting: a follow-up study.
Clinical genetics 2005 Apr 67 (4): 352-5. Regev M, Barzilai S-Eisenberg, Figer A, Zidan J, Fidder H H, Friedman |
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A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.
Familial cancer 2005 4 (2): 127-33. Truta Brindusa, Allen Brian A, Conrad Peggy G, Weinberg Vivian, Miller Glenn A, Pomponio Rob, Lipton Lara R, Guerra Germano, Tomlinson Ian P M, Sleisenger Marvin H, Kim Young S, Terdiman Jonathan |
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Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.
Gut 2004 Dec 53 (12): 1832-6. Sturt N J H, Gallagher M C, Bassett P, Philp C R, Neale K F, Tomlinson I P M, Silver A R J, Phillips R K |
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APC genotype is not a prognostic factor in familial adenomatous polyposis patients with colorectal cancer.
Diseases of the colon and rectum 2004 Oct 47 (10): 1662-9. Bertario Lucio, Russo Antonio, Sala Paola, Varesco Liliana, Crucianelli Rosella, Frattini Milo, Pierotti Marco A, Radice Paolo, |
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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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First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.
Human mutation 2004 May 23 (5): 523-4. De Rosa M, Dourisboure RJ, Morelli G, Graziano A, Gutiérrez A, Thibodeau S, Halling K, Avila KC, Duraturo F, Podesta EJ, Izzo P, Solano AR |
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Role of inherited defects of MYH in the development of sporadic colorectal cancer.
Genes, chromosomes & cancer 2004 May 40 (1): 1-9. Kambara Takeshi, Whitehall Vicki L J, Spring Kevin J, Barker Melissa A, Arnold Sven, Wynter Coral V A, Matsubara Nagahide, Tanaka Noriaki, Young Joanne P, Leggett Barbara A, Jass Jeremy |
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[Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis].
Casopís lékar?? c?eských 2004 143 (8): 543-6. Konvalinka D, Bik E C, Tops C M, Bakker E, Singh A R, Vrt?l R, Santavý |
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Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim.
American journal of human genetics 2003 Dec 73 (6): 1250-60. Niell Bethany L, Long Jeffrey C, Rennert Gad, Gruber Stephen |
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The APC E1317Q variant in adenomatous polyps and colorectal cancers.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2003 Oct 12 (10): 1023-8. Hahnloser D, Petersen G M, Rabe K, Snow K, Lindor N M, Boardman L, Koch B, Doescher D, Wang L, Steenblock K, Thibodeau S |
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Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.
The American journal of pathology 2002 Jun 160 (6): 2055-61. Groves Christopher, Lamlum Hanan, Crabtree Michael, Williamson Jill, Taylor Claire, Bass Sylvia, Cuthbert-Heavens Darren, Hodgson Shirley, Phillips Robin, Tomlinson I |
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The influence of mutation site and age on the severity of duodenal polyposis in patients with familial adenomatous polyposis.
Gastrointestinal endoscopy 2002 Mar 55 (3): 342-7. Saurin Jean-Christophe, Ligneau Blandine, Ponchon Thierry, Leprêtre Jean, Chavaillon Annick, Napoléon Bertrand, Chayvialle Jean-Ala |
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Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis.
Pharmacogenetics 2002 Jan 12 (1): 49-54. Lamberti Christof, Jungck Matthias, Laarmann Michael, Knapp Michael, Caspari Reiner, Friedl Waltraut, Sauerbruch Tilman, Propping Peter, Kruse Rola |
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Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas.
Genetic testing 2002 6 (4): 313-7. Gismondi V, Bonelli L, Sciallero S, Margiocco P, Viel A, Radice P, Mondini P, Sala P, Montera M P, Mareni C, Quaia M, Fornasarig M, Gentile M, Pietro G, Rossini P, Arrigoni A, Meucci G M, Bruzzi P, Varesco |
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Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis.
Cancer research 2001 Oct 61 (20): 7616-22. Heinimann K, Thompson A, Locher A, Furlanetto T, Bader E, Wolf A, Meier R, Walter K, Bauerfeind P, Marra G, Müller H, Foernzler D, Dobbie |
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Predictive genetic testing in children and adults: a study of emotional impact.
Journal of medical genetics 2001 Aug 38 (8): 519-26. Michie S, Bobrow M, Marteau TM |
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Relationship between APC genotype, polyp distribution, and oral sulindac treatment in the colon and rectum of patients with familial adenomatous polyposis.
Diseases of the colon and rectum 2001 Aug 44 (8): 1090-7; discussion 1097-9. Guldenschuh I, Hurlimann R, Muller A, Ammann R, Mullhaupt B, Dobbie Z, Zala G F, Flury R, Seelentag W, Roth J, Meyenberger C, Fried M, Hoppeler T, Spigelman A D, Scott R |
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Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin.
Human genetics 2001 Mar 108 (3): 205-10. Silverberg M S, Clelland C, Murphy J E, Steinhart A H, McLeod R S, Greenberg G R, Cohen Z, Siminovitch K |
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Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis.
International journal of cancer. Journal international du cancer 2001 Mar 95 (2): 102-7. Bertario L, Russo A, Sala P, Eboli M, Giarola M, D'amico F, Gismondi V, Varesco L, Pierotti M A, Radice P, |
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APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.
Gastroenterology 2001 Feb 120 (2): 392-400. Stern H S, Viertelhausen S, Hunter A G, O'Rourke K, Cappelli M, Perras H, Serfas K, Blumenthall A, Dewar D, Baumann E, Lagarde A |
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CTNNB1 genotyping and APC screening in pediatric desmoid tumors: a proposed algorithm.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 0 15 (5): 361-7. Wang Wei-Lien, Nero Christopher, Pappo Alberto, Lev Dina, Lazar Alexander J, López-Terrada Dolor |
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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 |
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- Page last updated:Oct 10, 2019
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