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501 results

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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: martin gm. 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. Among authors: martin gm. 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.
Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?
Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Lessel D, et al. Among authors: martin gm. Am J Med Genet A. 2014 Oct;164A(10):2510-3. doi: 10.1002/ajmg.a.36664. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989684 Free PMC article.
Clinical utility gene card for: Werner Syndrome--Update 2014.
Hisama FM, Kubisch C, Martin GM, Oshima J. Hisama FM, et al. Among authors: martin gm. Eur J Hum Genet. 2015 Jun;23(6):891-. doi: 10.1038/ejhg.2014.171. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182132 Free PMC article. No abstract available.
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: martin gm. 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.
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. Sargolzaeiaval F, et al. Among authors: martin gm. Mol Genet Genomic Med. 2018 Nov;6(6):1148-1156. doi: 10.1002/mgg3.495. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393977 Free PMC article.
Lessons for aging from Werner syndrome epigenetics.
Martin GM, Poot M, Haaf T. Martin GM, et al. Aging (Albany NY). 2020 Feb 5;12(3):2022-2023. doi: 10.18632/aging.102829. Epub 2020 Feb 5. Aging (Albany NY). 2020. PMID: 32023552 Free PMC article. No abstract available.
The spectrum of WRN mutations in Werner syndrome patients.
Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch H, Dorn T, Spiegel R, Oral EA, Abid M, Battisti C, Lucci-Cordisco E, Neri G, Steed EH, Kidd A, Isley W, Showalter D, Vittone JL, Konstantinow A, Ring J, Meyer P, Wenger SL, von Herbay A, Wollina U, Schuelke M, Huizenga CR, Leistritz DF, Martin GM, Mian IS, Oshima J. Huang S, et al. Among authors: martin gm. Hum Mutat. 2006 Jun;27(6):558-67. doi: 10.1002/humu.20337. Hum Mutat. 2006. PMID: 16673358 Free PMC article.
501 results