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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Among authors: hisama fm. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
Positional cloning of the Werner's syndrome gene.
Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD. Yu CE, et al. Science. 1996 Apr 12;272(5259):258-62. doi: 10.1126/science.272.5259.258. Science. 1996. PMID: 8602509
WRN's tenth anniversary.
Hisama FM, Bohr VA, Oshima J. Hisama FM, et al. Sci Aging Knowledge Environ. 2006 Jun 28;2006(10):pe18. doi: 10.1126/sageke.2006.10.pe18. Sci Aging Knowledge Environ. 2006. PMID: 16807482 Review.
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J. Friedrich K, et al. Among authors: hisama fm. Hum Genet. 2010 Jul;128(1):103-11. doi: 10.1007/s00439-010-0832-5. Epub 2010 May 5. Hum Genet. 2010. PMID: 20443122 Free PMC article.
Clinical utility gene card for: Werner syndrome.
Hisama FM, Kubisch C, Martin GM, Oshima J. Hisama FM, et al. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.265. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258520 Free PMC article. No abstract available.
171 results