Heinimann K - Search Results

1

Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).

Plasilova M, Chattopadhyay C, Ghosh A, Wenzel F, Demougin P, Noppen C, Schaub N, Szinnai G, Terracciano L, Heinimann K. Plasilova M, et al. Among authors: heinimann k. PLoS One. 2011;6(6):e21433. doi: 10.1371/journal.pone.0021433. Epub 2011 Jun 27. PLoS One. 2011. PMID: 21738662 Free PMC article.

2

Genetic predisposition as a basis for chemoprevention, surgical and other interventions in colorectal cancer.

Müller H, Plasilova M, Russell AM, Heinimann K. Müller H, et al. Among authors: heinimann k. Recent Results Cancer Res. 2003;163:235-47; discussion 264-6. doi: 10.1007/978-3-642-55647-0_21. Recent Results Cancer Res. 2003. PMID: 12903858 Review.

3

Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred.

Plasilova M, Russell AM, Wanner A, Wolf A, Dobbie Z, Müller HJ, Heinimann K. Plasilova M, et al. Among authors: heinimann k. Eur J Hum Genet. 2004 May;12(5):365-71. doi: 10.1038/sj.ejhg.5201157. Eur J Hum Genet. 2004. PMID: 14735163

4

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.

Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K. Plasilova M, et al. Among authors: heinimann k. J Med Genet. 2004 Aug;41(8):609-14. doi: 10.1136/jmg.2004.019661. J Med Genet. 2004. PMID: 15286156 Free PMC article. No abstract available.

5

Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer.

Westphalen AA, Russell AM, Buser M, Berthod CR, Hutter P, Plasilova M, Mueller H, Heinimann K. Westphalen AA, et al. Among authors: heinimann k. Hum Genet. 2005 May;116(6):461-5. doi: 10.1007/s00439-005-1272-5. Epub 2005 Mar 17. Hum Genet. 2005. PMID: 15772852

6

Prognostic and predictive relevance of microsatellite instability in colorectal cancer.

Storojeva I, Boulay JL, Heinimann K, Ballabeni P, Terracciano L, Laffer U, Mild G, Herrmann R, Rochlitz C. Storojeva I, et al. Among authors: heinimann k. Oncol Rep. 2005 Jul;14(1):241-9. Oncol Rep. 2005. PMID: 15944796

7

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.

Zhang J, Lindroos A, Ollila S, Russell A, Marra G, Mueller H, Peltomaki P, Plasilova M, Heinimann K. Zhang J, et al. Among authors: heinimann k. Cancer Res. 2006 Jan 15;66(2):659-64. doi: 10.1158/0008-5472.CAN-05-4043. Cancer Res. 2006. PMID: 16423994 Free article.

8

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.

Gürtler N, Plasilova M, Podvinec M, Boesch N, Müller H, Heinimann K. Gürtler N, et al. Among authors: heinimann k. Laryngoscope. 2006 Jan;116(1):111-4. doi: 10.1097/01.mlg.0000185602.86655.b5. Laryngoscope. 2006. PMID: 16481821

9

A de novo MLH1 germ line mutation in a 31-year-old colorectal cancer patient.

Plasilova M, Zhang J, Okhowat R, Marra G, Mettler M, Mueller H, Heinimann K. Plasilova M, et al. Among authors: heinimann k. Genes Chromosomes Cancer. 2006 Dec;45(12):1106-10. doi: 10.1002/gcc.20374. Genes Chromosomes Cancer. 2006. PMID: 16955466

10

Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8.

Filges I, Röthlisberger B, Wenzel F, Heinimann K, Huber AR, Miny P. Filges I, et al. Among authors: heinimann k. Am J Med Genet A. 2008 Nov 1;146A(21):2837-41. doi: 10.1002/ajmg.a.32520. Am J Med Genet A. 2008. PMID: 18924172 No abstract available.

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