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Items: 6


Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

Stuppia L, Antonucci I, Palka G, Gatta V.

Int J Mol Sci. 2012;13(3):3245-76. doi: 10.3390/ijms13033245. Epub 2012 Mar 8. Review.


Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases.

Rumilla K, Schowalter KV, Lindor NM, Thomas BC, Mensink KA, Gallinger S, Holter S, Newcomb PA, Potter JD, Jenkins MA, Hopper JL, Long TI, Weisenberger DJ, Haile RW, Casey G, Laird PW, Le Marchand L, Thibodeau SN.

J Mol Diagn. 2011 Jan;13(1):93-9. doi: 10.1016/j.jmoldx.2010.11.011. Epub 2010 Dec 23.


Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma.

Obermair A, Youlden DR, Young JP, Lindor NM, Baron JA, Newcomb P, Parry S, Hopper JL, Haile R, Jenkins MA.

Int J Cancer. 2010 Dec 1;127(11):2678-84. doi: 10.1002/ijc.25501.


Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, Vriends AH; Dutch Lynch Syndrome Study Group, Cartwright NR, Barnetson RA, Farrington SM, Tenesa A, Hampel H, Buchanan D, Arnold S, Young J, Walsh MD, Jass J, Macrae F, Antill Y, Winship IM, Giles GG, Goldblatt J, Parry S, Suthers G, Leggett B, Butz M, Aronson M, Poynter JN, Baron JA, Le Marchand L, Haile R, Gallinger S, Hopper JL, Potter J, de la Chapelle A, Vasen HF, Dunlop MG, Thibodeau SN, Jenkins MA.

J Natl Cancer Inst. 2010 Feb 3;102(3):193-201. doi: 10.1093/jnci/djp473. Epub 2009 Dec 22.


Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction.

Vaughn CP, Lyon E, Samowitz WS.

J Mol Diagn. 2008 Jul;10(4):355-60. doi: 10.2353/jmoldx.2008.080021. Epub 2008 Jun 13.


Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Casey G, Lindor NM, Papadopoulos N, Thibodeau SN, Moskow J, Steelman S, Buzin CH, Sommer SS, Collins CE, Butz M, Aronson M, Gallinger S, Barker MA, Young JP, Jass JR, Hopper JL, Diep A, Bapat B, Salem M, Seminara D, Haile R; Colon Cancer Family Registry.

JAMA. 2005 Feb 16;293(7):799-809.

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