Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Syndrome and SMAD4[original query] |
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| 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 |
| Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation. Journal of gastroenterology 2012 Jul 47 (7): 795-804. Schwenter Frank, Faughnan Marie E, Gradinger Abigail B, Berk Terri, Gryfe Robert, Pollett Aaron, Cohen Zane, Gallinger Steven, Durno Car |
| Identification of molecular alterations in gastrointestinal carcinomas and dysplastic hamartomas in Peutz-Jeghers syndrome. Carcinogenesis 2013 Jul 34 (7): 1611-9. Korsse Susanne E, Biermann Katharina, Offerhaus G Johan A, Wagner Anja, Dekker Evelien, Mathus-Vliegen Elisabeth M H, Kuipers Ernst J, van Leerdam Monique E, van Veelen Wen |
| 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 |
| Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism. BMC urology 2017 12 17 (1): 112. Mizuno Kentaro, Nakane Akihiro, Nishio Hidenori, Moritoki Yoshinobu, Kamisawa Hideyuki, Kurokawa Satoshi, Kato Taiki, Ando Ryosuke, Maruyama Tetsuji, Yasui Takahiro, Hayashi Yuta |
| Germline Genetic Features of Young Individuals With Colorectal Cancer. Gastroenterology 2018 03 154 (4): 897-905.e1. Stoffel Elena M, Koeppe Erika, Everett Jessica, Ulintz Peter, Kiel Mark, Osborne Jenae, Williams Linford, Hanson Kristen, Gruber Stephen B, Rozek Laura |
| Transforming growth factor-? signaling pathway-associated genes SMAD2 and TGFBR2 are implicated in metabolic syndrome in a Taiwanese population. Scientific reports 2017 Oct 7 (1): 13589. Lin Eugene, Kuo Po-Hsiu, Liu Yu-Li, Yang Albert C, Tsai Shih-J |
| Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. PloS one 2018 9 13 (9): e0203885. Martin-Morales Lorena, Rofes Paula, Diaz-Rubio Eduardo, Llovet Patricia, Lorca Victor, Bando Inmaculada, Perez-Segura Pedro, de la Hoya Miguel, Garre Pilar, Garcia-Barberan Vanesa, Caldes Trinid |
| Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital. Upsala journal of medical sciences 2018 9 123 (3): 153-157. Karlsson Torbjörn, Cherif Hon |
| Impact of Patient Age on Molecular Alterations of Left-Sided Colorectal Tumors. The oncologist 2018 7 24 (3): 319-326. Puccini Alberto, Lenz Heinz-Josef, Marshall John L, Arguello David, Raghavan Derek, Korn W Michael, Weinberg Benjamin A, Poorman Kelsey, Heeke Arielle L, Philip Philip A, Shields Anthony F, Goldberg Richard M, Salem Mohamed |
| Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome. Clinical colorectal cancer 2019 7 18 (4): e324-e334. Ow Samuel G W, Tan Kar Tong, Yang Henry, Yap Hui-Ling, Sapari Nur Sabrina Binte, Ong Pei Yi, Soong Richie, Lee Soo-Ch |
| Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes. Clinical and translational gastroenterology 2019 5 10 (5): 1-9. Gilad Ophir, Rosner Guy, Fliss-Isakov Naomi, Aharon-Kaspi Sivan, Strul Hana, Gluck Nathan, Kariv Revit |
| Clinical and genomic characterisation of mismatch repair deficient pancreatic adenocarcinoma. Gut 2020 9 70 (10): 1894-1903. Grant Robert C, Denroche Robert, Jang Gun Ho, Nowak Klaudia M, Zhang Amy, Borgida Ayelet, Holter Spring, Topham James T, Wilson Julie, Dodd Anna, Jang Raymond, Prince Rebecca, Karasinska Joanna M, Schaeffer David F, Wang Yifan, Zogopoulos George, Berry Scott, Simeone Diane, Renouf Daniel J, Notta Faiyaz, O'Kane Grainne, Knox Jennifer, Fischer Sandra, Gallinger Stev |
| 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 |
| Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer. Frontiers in oncology 2020 10 568911. Xu Ting, Zhang Yinjie, Zhang Jing, Qi Changsong, Liu Dan, Wang Zhenghang, Li Yanyan, Ji Congcong, Li Jian, Lin Xuan, Hou Ting, Liu Hao, Zhang Lu, Han-Zhang Han, Shen Lin, Wang Xiche |
| Panel gene profiling of small bowel adenocarcinoma: Results from the NADEGE prospective cohort. International journal of cancer 2020 Nov . Aparicio Thomas, Svrcek Magali, Henriques Julie, Afchain Pauline, Lièvre Astrid, Tougeron David, Gagniere Johan, Terrebonne Eric, Piessen Guillaume, Legoux Jean-Louis, Lecaille Cédric, Pocard Marc, Gornet Jean-Marc, Zaanan Aziz, Lavau-Denes Sandrine, Lecomte Thierry, Deutsch David, Vernerey Dewi, Puig Pierre Laure |
| 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 |
| Serine/Threonine Kinase 11 Plays a Canonical Role in Malignant Progression of KRAS -Mutant and GNAS -Wild-Type Intraductal Papillary Mucinous Neoplasms of the Pancreas. Annals of surgery 2021 4 277 (2): e384-e395. Omori Yuko, Ono Yusuke, Morikawa Takanori, Motoi Fuyuhiko, Higuchi Ryota, Yamamoto Masakazu, Hayakawa Yuko, Karasaki Hidenori, Mizukami Yusuke, Unno Michiaki, Furukawa To |
| Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. American journal of medical genetics. Part A 2021 12 188 (3): 959-964. Balachandar Srimmitha, Graves Tamara J, Shimonty Anika, Kerr Katie, Kilner Jill, Xiao Sihao, Slade Richard, Sroya Manveer, Alikian Mary, Curetean Emanuel, Thomas Ellen, McConnell Vivienne P M, McKee Shane, Boardman-Pretty Freya, Devereau Andrew, Fowler Tom A, Caulfield Mark J, Alton Eric W, Ferguson Teena, Redhead Julian, McKnight Amy J, Thomas Geraldine A, , Aldred Micheala A, Shovlin Claire |
| The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer. Cancers 2021 10 13 (20): . Frostberg Erik, Petersen Annabeth Høgh, Bojesen Anders, Rahr Hans Bjarke, Lindebjerg Jan, Rønlund Kari |
| 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 |
| An Unexpected Anemia Hiding a Rare Syndrome With Overlapping Phenotypes. ACG case reports journal 2022 11 9 (11): e00926. Dal Buono Arianna, Poliani Laura, Repici Alessandro, Hassan Cesare, Bianchi Pao |
| Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. JAMA oncology 2022 11 9 (1): 95-101. Holowatyj Andreana N, Washington Mary K, Tavtigian Sean V, Eng Cathy, Horton Carol |
| Pancreatoblastoma in Elderly Adults: Report of Two Patients. International journal of surgical pathology 2022 10 10668969221133347. Kulak Ozlem, Osipov Arsen, Hendifar Andrew E, Nissen Nicholas N, Cox Brian K, Hruban Ralph H, Hutchings Danielle |
| 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 |
| A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression. International journal of surgical pathology 2022 1 30 (6): 606-615. Anderson William J, Tsai Harrison K, Sholl Lynette M, Hirsch Michelle |
| Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases. British journal of cancer 2024 5 . Thomas Aparicio, Julie Henriques, Magali Svrcek, Aziz Zaanan, Sylvain Manfredi, Andrea Casadei-Gardini, David Tougeron, Jean-Marc Gornet, Marine Jary, Eric Terrebonne, Guillaume Piessen, Pauline Afchain, Cédric Lecaille, Marc Pocard, Thierry Lecomte, Margherita Rimini, Frédéric Di Fiore, Valérie Le Brun Ly, Stefano Cascinu, Dewi Vernerey, Pierre Laurent Pu |
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