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A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
- Published in:
- Familial Cancer, 2014, v. 13, n. 3, p. 401, doi. 10.1007/s10689-014-9726-3
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- Article
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 154, doi. 10.1038/ejhg.2012.150
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- Article
Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2011, v. 103, n. 2, p. 105, doi. 10.1093/jnci/djq494
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- Article
Juvenile Vertebrobasilar Ischaemic Stroke in a Patient with Camurati-Engelmann Disease.
- Published in:
- Cerebrovascular Diseases, 2005, v. 20, n. 4, p. 283, doi. 10.1159/000087712
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- Article
TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.
- Published in:
- Human Genetics, 2001, v. 108, n. 2, p. 156, doi. 10.1007/s004390100460
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- Article