HuGE Literature Finder
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| 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 |
| Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A. Clinical and translational gastroenterology 2019 Jul . Lieberman Sari, Beeri Rachel, Walsh Tom, Schechter Menachem, Keret Dan, Half Elizabet, Gulsuner Suleyman, Tomer Ariela, Jacob Harold, Cohen Shlomi, Basel-Salmon Lina, Mansur Mahmud, Berger Rachel, Katz Lior H, Golomb Eliahu, Peretz Tamar, Levy Zohar, Kedar Inbal, King Mary-Claire, Levy-Lahad Ephrat, Goldberg Ya |
| Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. American journal of medical genetics. Part A 2019 May . Golas Monika M, Auber Bernd, Ripperger Tim, Pabst Brigitte, Schmidt Gunnar, Morlot Michel, Diebold Uta, Steinemann Doris, Schlegelberger Brigitte, Morlot Susan |
| Genomic imbalances in syndromic congenital heart disease. Jornal de pediatria 2017 Mar . Molck Miriam C, Simioni Milena, Vieira Társis P, Sgardioli Ilária C, Monteiro Fabíola P, Souza Josiane, Fett-Conte Agnes C, Félix Têmis M, Monlléo Isabella L, Gil-da-Silva-Lopes Vera Lúc |
| 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 |
| Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. Genetics in medicine : official journal of the American College of Medical Genetics 2015 May . D'Alessandro Lisa C A, Al Turki Saeed, Manickaraj Ashok Kumar, Manase Dorin, Mulder Barbara J M, Bergin Lynn, Rosenberg Herschel C, Mondal Tapas, Gordon Elaine, Lougheed Jane, Smythe John, Devriendt Koen, Bhattacharya Shoumo, Watkins Hugh, Bentham Jamie, Bowdin Sarah, Hurles Matthew E, Mital See |
| 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 |
| 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 |
| 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 |
| Mutation screening in juvenile polyposis syndrome. The Journal of molecular diagnostics : JMD 2006 Feb 8 (1): 84-8. Pyatt Robert E, Pilarski Robert, Prior Thomas |
| The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. Journal of medical genetics 2004 Jul 41 (7): 484-91. Howe J R, Sayed M G, Ahmed A F, Ringold J, Larsen-Haidle J, Merg A, Mitros F A, Vaccaro C A, Petersen G M, Giardiello F M, Tinley S T, Aaltonen L A, Lynch H |
| Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Human genetics 2002 Jul 111 (1): 108-11. Friedl Waltraut, Uhlhaas Siegfried, Schulmann Karsten, Stolte Manfred, Loff Steffan, Back Walter, Mangold Elisabeth, Stern Martin, Knaebel Hanns-Peter, Sutter Christian, Weber Ruthild G, Pistorius Steffen, Burger Bettina, Propping Pet |
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- Page last updated:Jun 28, 2022
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