Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Polyps and SMAD4[original query] |
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| Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Annals of surgical oncology 2002 Nov 9 (9): 901-6. Sayed M G, Ahmed A F, Ringold J R, Anderson M E, Bair J L, Mitros F A, Lynch H T, Tinley S T, Petersen G M, Giardiello F M, Vogelstein B, Howe J |
| High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. Journal of medical genetics 2007 Nov 44 (11): 702-9. Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius M M, Loff S, Back W, Kaufmann A, Keller K-M, Blaas S H, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl |
| The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clinical genetics 2009 Jan 75 (1): 79-85. Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe J |
| Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. Gastroenterology 2013 Jun 144 (7): 1402-9, 1409.e1-5. Ngeow Joanne, Heald Brandie, Rybicki Lisa A, Orloff Mohammed S, Chen Jin Lian, Liu Xiuli, Yerian Lisa, Willis Joseph, Lehtonen Heli J, Lehtonen Rainer, Mester Jessica L, Moline Jessica, Burke Carol A, Church James, Aaltonen Lauri A, Eng Char |
| Genotype-defined cancer risk in juvenile polyposis syndrome. The British journal of surgery 2015 Jan 102 (1): 114-8. Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi F H, Kalady M F, Burke C A, Church J |
| Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps. Scandinavian journal of gastroenterology 2016 May 1-8. Jelsig Anne Marie, Brusgaard Klaus, Hansen Tine Plato, Qvist Niels, Larsen Martin, Bojesen Anders, Nielsen Claus Buhl, Ousager Lilian Bom |
| Acquired somatic TP53 or PIK3CA mutations are potential predictors of when polyps evolve into colorectal cancer. Oncotarget 2017 Sep 8 (42): 72352-72362. Chang Pi-Yueh, Chen Jinn-Shiun, Chang Shih-Cheng, Wang Mei-Chia, Chang Nai-Chung, Wen Ying-Hao, Tsai Wen-Sy, Liu Wei-Hsiu, Liu Hsiu-Ling, Lu Jang-J |
| Mutation profile of high-grade appendiceal mucinous neoplasm. Histopathology 2019 Sep . Liao Xiaoyan, Vavinskaya Vera, Sun Katherine, Hao Yansheng, Li Xiaodong, Valasek Mark, Xu Ruliang, Polydorides Alexandros D, Houldsworth Jane, Harpaz No |
| SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience. International journal of colorectal disease 2020 6 35 (10): 1963-1965. McDonald Nicholas M, Ramos Guilherme Piovezani, Sweetser Se |
| Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May . Blatter Robert, Tschupp Benjamin, Aretz Stefan, Bernstein Inge, Colas Chrystelle, Evans D Gareth, Genuardi Maurizio, Hes Frederik J, Hüneburg Robert, Järvinen Heikki, Lalloo Fiona, Moeslein Gabriela, Renkonen-Sinisalo Laura, Resta Nicoletta, Spier Isabel, Varvara Dora, Vasen Hans, Latchford Andrew R, Heinimann Ka |
| Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. Cancer prevention research (Philadelphia, Pa.) 2020 10 14 (2): 215-222. MacFarland Suzanne P, Ebrahimzadeh Jessica E, Zelley Kristin, Begum Lubna, Bass Lee M, Brand Randall E, Dudley Beth, Fishman Douglas S, Ganzak Amanda, Karloski Eve, Latham Alicia, Llor Xavier, Plon Sharon, Riordan Mary K, Scollon Sarah R, Stadler Zsofia K, Syngal Sapna, Ukaegbu Chinedu, Weiss Jennifer M, Yurgelun Matthew B, Brodeur Garrett M, Mamula Petar, Katona Bryson |
| Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers. Clinical and translational gastroenterology 2022 9 13 (10): e00527. Rosner Guy, Petel-Galil Yael, Laish Ido, Levi Zohar, Kariv Revital, Strul Hana, Gilad Ophir, Gluck Nath |
| SMAD4 mutations identified in Iranian patients with colorectal cancer and polyp. Gastroenterology and hepatology from bed to bench 2022 2 14 (Suppl1): S32-S40. Najjar Sadeghi Rouhallah, Saeedi Nastaran, Sahba Negar, Sadeghi Am |
| 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 |
| Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background. Hereditary cancer in clinical practice 2022 1 20 (1): 2. Katz Lior Haim, Gingold-Belfer Rachel, Vainer Elez, Hegger Shani, Laish Ido, Derazne Estela, Weintraub Ilana, Reznick-Levi Gili, Goldberg Yael, Levi Zohar, Cohen Shlomi, Half Elizabeth |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 25, 2023
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