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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Li J, et al. Among authors: olschwang s. Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087319 Free PMC article.
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D. Kaurah P, et al. Among authors: olschwang s. JAMA. 2007 Jun 6;297(21):2360-72. doi: 10.1001/jama.297.21.2360. Epub 2007 Jun 3. JAMA. 2007. PMID: 17545690
Genomic variations integrated database for MUTYH-associated adenomatous polyposis.
Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Blayau M, Buisine MP, Coulet F, Maugard C, Pinson S, Remenieras A, Rouleau E, Uhrhammer N, Beroud C, Olschwang S. Grandval P, et al. Among authors: olschwang s. J Med Genet. 2015 Jan;52(1):25-7. doi: 10.1136/jmedgenet-2014-102752. Epub 2014 Nov 3. J Med Genet. 2015. PMID: 25368107 No abstract available.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: olschwang s. Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26. Hum Mutat. 2016. PMID: 27600092
Alleles of the APC gene: an attenuated form of familial polyposis.
Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, et al. Spirio L, et al. Among authors: olschwang s. Cell. 1993 Dec 3;75(5):951-7. doi: 10.1016/0092-8674(93)90538-2. Cell. 1993. PMID: 8252630
217 results