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8. Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients. Tanskanen T; Gylfe AE; Katainen R; Taipale M; Renkonen-Sinisalo L; Mecklin JP; Järvinen H; Tuupanen S; Kilpivaara O; Vahteristo P; Aaltonen LA Scand J Gastroenterol; 2013 Jun; 48(6):672-8. PubMed ID: 23544471 [TBL] [Abstract][Full Text] [Related]
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10. Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations. Sherman SK; Maxwell JE; Qian Q; Bellizzi AM; Braun TA; Iannettoni MD; Darbro BW; Howe JR Cancer Genet; 2015; 208(1-2):41-6. PubMed ID: 25554686 [TBL] [Abstract][Full Text] [Related]
11. Considerations for the development of a reference method for sequencing of haploid DNA--an opinion paper on behalf of the IFCC Committee on Molecular Diagnostics, International Federation of Clinical Chemistry and Laboratory Medicine. Rousseau F; Gancberg D; Schimmel H; Neumaier M; Bureau A; Mamotte C; van Schaik R; Payne D; Pazzagli M; Young I Clin Chem Lab Med; 2009; 47(11):1343-50. PubMed ID: 19817648 [TBL] [Abstract][Full Text] [Related]
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14. Detecting laboratory DNA contamination using polyester-rayon wipes: a method validation study. Remillard EM; Taylor LK; Layshock J; Van Cuyk S; Omberg KM J Microbiol Methods; 2013 Mar; 92(3):358-65. PubMed ID: 23318551 [TBL] [Abstract][Full Text] [Related]
15. Verification of performance specifications of a molecular test: cystic fibrosis carrier testing using the Luminex liquid bead array. Lacbawan FL; Weck KE; Kant JA; Feldman GL; Schrijver I; Arch Pathol Lab Med; 2012 Jan; 136(1):14-9. PubMed ID: 22208482 [TBL] [Abstract][Full Text] [Related]
16. [Cowden syndrome can be a challenging diagnosis]. Skytte AB; Gerdes AM; Bygum A Ugeskr Laeger; 2014 Jan; 176(2):162-5. PubMed ID: 24629684 [TBL] [Abstract][Full Text] [Related]
17. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. van Hattem WA; Brosens LA; de Leng WW; Morsink FH; Lens S; Carvalho R; Giardiello FM; Offerhaus GJ Gut; 2008 May; 57(5):623-7. PubMed ID: 18178612 [TBL] [Abstract][Full Text] [Related]
18. Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. Al-Daraji WI; Ramsay HM; Ali RB J Clin Pathol; 2007 Jul; 60(7):840-2. PubMed ID: 17513505 [No Abstract] [Full Text] [Related]
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