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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: lee l. 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.
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: lee l. Hum Mutat. 2006 Jun;27(6):558-67. doi: 10.1002/humu.20337. Hum Mutat. 2006. PMID: 16673358 Free PMC article.
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: lee l. 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.
LMNA mutations in atypical Werner's syndrome.
Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J. Chen L, et al. Among authors: lee l. Lancet. 2003 Aug 9;362(9382):440-5. doi: 10.1016/S0140-6736(03)14069-X. Lancet. 2003. PMID: 12927431
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Niedernhofer LJ, Oshima J. Mori T, et al. Among authors: lee l. Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17. Hum Mutat. 2018. PMID: 29105242 Free PMC article.
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Miller DE, Lee L, Galey M, Kandhaya-Pillai R, Tischkowitz M, Amalnath D, Vithlani A, Yokote K, Kato H, Maezawa Y, Takada-Watanabe A, Takemoto M, Martin GM, Eichler EE, Hisama FM, Oshima J. Miller DE, et al. Among authors: lee l. J Med Genet. 2022 May 9;59(11):1087-94. doi: 10.1136/jmedgenet-2022-108485. Online ahead of print. J Med Genet. 2022. PMID: 35534204 Free PMC article.
9,961 results