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Pharmacogenetics|January 5, 2002
Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposisChristof Lamberti, Matthias Jungck, Michael Laarmann, et al.
Human Mutation|October 2, 2004
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC geneStefan Aretz, Siegfried Uhlhaas, Yuli Sun, et al.
International Journal of Cancer|March 25, 2006
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotypeStefan Aretz, Siegfried Uhlhaas, Heike Goergens, et al.
Acta Oncologica (Stockholm, Sweden)|July 27, 2007
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndromeNils Rahner, Nicolaus Friedrichs, Maria Wehner, et al.
The Journal of Molecular Diagnostics : JMD|January 26, 2007
A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplificationConstanze Pagenstecher, Dorothea Gadzicki, Dietlinde Stienen, et al.
Human Genetics|December 13, 2005
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variantsConstanze Pagenstecher, Maria Wehner, Waltraut Friedl, et al.
American Journal of Medical Genetics. Part A|April 15, 2008
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosusNils Rahner, Gerald Höefler, Christoph Högenauer, et al.
Human Molecular Genetics|April 4, 2002
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Pascal H G Duijf, Kaate R J Vanmolkot, Peter Propping, et al.
The Journal of Pathology|October 11, 2005
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 stainingElisabeth Mangold, Constanze Pagenstecher, Waltraut Friedl, et al.
The Journal of Molecular Diagnostics : JMD|February 7, 2009
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewAstrid Kaufmann, Stefanie Vogt, Siegfried Uhlhaas, et al.
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