HuGE Literature Finder
Records 1-10
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 27, 2021
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