Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review-Reference-Cited by-同舟云学术

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Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review

Published:2007-06-13 Issue:10 Volume:15 Page:1034-1042
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nielsen Maartje,Bik Elsa,Hes Frederik J,Breuning Martijn H,Vasen Hans F A,Bakker Egbert,Tops Carli M J,Weiss Marjan M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201871.pdf

Reference40 articles.

1. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J : Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3: 121–125.

2. Friedl W, Caspari R, Sengteller M et al: Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48: 515–521.

3. Knudsen AL, Bisgaard ML, Bulow S : Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003; 2: 43–55.

4. Al Tassan N, Chmiel NH, Maynard J et al: Inherited variants of MYH associated with somatic G:C–>T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227–232.

5. Nielsen M, Franken PF, Reinards TH et al: Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005; 42: e54.

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