Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: Polyps and MUTYH[original query] |
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Simplifying the detection of MUTYH mutations by high resolution melting analysis. BMC cancer 2010 10 (1): 408. López-Villar Isabel, Ayala Rosa, Wesselink Jan, Morillas Juan Diego, López Elena, Marín José Carlos, Díaz-Tasende José, González Sara, Robles Luis, Martínez-López Joaqu |
Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. International journal of colorectal disease 2011 Jul 26 (7): 841-6. Pitroski Carlos E, Cossio Silvia Liliana, Koehler-Santos Patrícia, Graudenz Marcia, Prolla João Carlos, Ashton-Prolla Patric |
First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. European journal of cancer (Oxford, England : 1990) 2011 1 47 (7): 1046-55. Morak Monika, Massdorf Trisari, Sykora Helena, Kerscher Martina, Holinski-Feder El |
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 |
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 |
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 |
Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer. Oxidative medicine and cellular longevity 2014 2014 617351. Shinmura Kazuya, Goto Masanori, Tao Hong, Kato Hisami, Suzuki Rie, Nakamura Satoki, Matsuda Tomonari, Yin Guang, Morita Makiko, Kono Suminori, Sugimura Haruhi |
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. Clinical genetics 2015 Apr 87 (4): 368-72. Landon M, Ceulemans S, Saraiya D S, Strike B, Arnell C, Burbidge L A, Moyes K, Theisen A, Fernandes P H, Ji J Q, Abbott B, Kaldate R R, Roa |
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 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology 2015 Sep 149 (3): 604-613.e20. Yurgelun Matthew B, Allen Brian, Kaldate Rajesh R, Bowles Karla R, Judkins Thaddeus, Kaushik Praveen, Roa Benjamin B, Wenstrup Richard J, Hartman Anne-Renee, Syngal Sap |
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 |
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 |
Clinical Characteristics of Multiple Colorectal Adenoma Patients Without Germline APC or MYH Mutations. Journal of clinical gastroenterology 2015 Oct . Tieu Alan H, Edelstein Daniel, Axilbund Jennifer, Romans Katharine E, Brosens Lodewijk A, Wiley Elizabeth, Hylind Linda, Giardiello Francis |
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 |
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 |
Type 1 serrated polyposis represents a predominantly female disease with a high prevalence of dysplastic serrated adenomas, without germline mutation in MUTYH, APC, and PTEN genes. United European gastroenterology journal 2016 Apr 4 (2): 305-13. Petronio Marco, Pinson Stephane, Walter Thomas, Joly Marie-Odile, Hervieu Valerie, Forestier Julien, Saurin Jean-Christop |
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. Journal of human genetics 2017 Feb 62 (2): 309-315. Ricci Maria Teresa, Miccoli Sara, Turchetti Daniela, Bondavalli Davide, Viel Alessandra, Quaia Michele, Giacomini Elisa, Gismondi Viviana, Sanchez-Mete Lupe, Stigliano Vittoria, Martayan Aline, Mazzei Filomena, Bignami Margherita, Bonelli Luigina, Varesco Lilia |
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 |
Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify. Clinical journal of gastroenterology 2018 5 11 (6): 457-460. Kidambi Trilokesh D, Goldberg Dena, Nussbaum Robert, Blanco Amie, Umetsu Sarah E, Terdiman Jonathan P, Lee Jeffrey |
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients. European journal of human genetics : EJHG 2018 1 26 (3): 387-395. Ciavarella Michele, Miccoli Sara, Prossomariti Anna, Pippucci Tommaso, Bonora Elena, Buscherini Francesco, Palombo Flavia, Zuntini Roberta, Balbi Tiziana, Ceccarelli Claudio, Bazzoli Franco, Ricciardiello Luigi, Turchetti Daniela, Piazzi Giul |
Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy. Iranian biomedical journal 2019 05 . Mahasneh Amjad, Al-Shaheri Fawaz N., BaniHani Mohammed |
Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations. The International journal of biological markers 2019 3 34 (1): 80-89. Araujo Luiza Ferreira, Molfetta Greice Andreotti, Vincenzi Otavio Costa, Huber Jair, Teixeira Lorena Alves, Ferraz Victor Evangelista, Silva Wilson Arau |
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis. Cancer genetics 2019 11 240 45-53. Kdissa Ameni, Brusgaard Klaus, Ksiaa Mahdi, Golli Lamia, Hallara Olfa, Ousager Lilian Bomme, Manoubi Wiem, Seghaier Rihab Ben, Adala Labiba, Halleb Yosra, Saad Ali, Hmila Fahmi, Gribaa Mo |
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 Jean-Pierre, Zerbib Frank, Coupier Isabelle, Cauchin Estelle, Pinson Stephane, Saurin Jean Christop |
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data. Cold Spring Harbor molecular case studies 2021 Oct . Hernandez Felicia, Conner Blair R, Richardson Marcy E, LaDuca Holly, Chao Elizabeth, Pesaran Tina, Karam Rach |
Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2022 3 33 (2): 81-87. Arslan Ate? Esra, Alavanda Ceren, Demir ?enol, Keklikk?ran Ça?layan, Attaallah Wafi, Özdo?an Osman Cavit, Güney Ahmet ?lt |
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021. Frontiers in genetics 2022 11 13 1020543. Roht Laura, Tooming Mikk, Rekker Kadri, Roomere Hanno, Toome Kadri, Murumets Ülle, Šamarina Ustina, Õunap Katrin, Kahre Tii |
Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps' number in clinical management and colorectal cancer risk. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2023 12 . Silvia Negro, Quoc Riccardo Bao, Marco Scarpa, Federico Scognamiglio, Salvatore Pucciarelli, Andrea Remo, Marco Agostini, Edoardo D'Angelo, Isabella Mammi, Francesca Schiavi, Silvia Rossi, Fabiana Zingone, Francesco Ferrara, Alberto Fantin, Chiara Cristofori, Ennio Guido, Erik Rosa Rizzotto, Rossana Intini, Francesca Bergamo, Matteo Fassan, Leonardo Salviati, Emanuele D L Ur |
Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report. Clinical case reports 2023 11 11 (12): e8229. Bei Zhao, Wenqi Sun, Yunrong Wang, Xinrong Wu, Yifan Li, Weiwei Wang, Muhan Ni, Peng Yan, Xiaotan Dou, Lei Wang, Min Ch |
[Results of Endoscopic Screening and Therapy of the Duodenum in MUTYH-associated Polyposis]. Zentralblatt fur Chirurgie 2023 11 148 (6): 502-507. Sonja Haas, Christian P Strassburg, Jacob Nattermann, Robert Huenebu |
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- Page last updated:Apr 16, 2024
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