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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Lessel D, et al. Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28. Nat Genet. 2014. PMID: 25261934 Free PMC article.
Runs of homozygosity and testicular cancer risk.
Loveday C, Sud A, Litchfield K, Levy M, Holroyd A, Broderick P, Kote-Jarai Z, Dunning AM, Muir K, Peto J, Eeles R, Easton DF, Dudakia D, Orr N, Pashayan N; UK Testicular Cancer Collaboration; PRACTICAL Consortium; Reid A, Huddart RA, Houlston RS, Turnbull C. Loveday C, et al. Andrology. 2019 Jul;7(4):555-564. doi: 10.1111/andr.12667. Andrology. 2019. PMID: 31310061 Free article.
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: lessel d. 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.
Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits.
Utrobičić I, Novak I, Marinović-Terzić I, Matić K, Lessel D, Salamunić I, Babić MS, Kunac N, Mešin AK, Kubisch C, Maček B, Terzić J. Utrobičić I, et al. Among authors: lessel d. Neurosurgery. 2014 Sep;75(3):276-85; discussion 285. doi: 10.1227/NEU.0000000000000422. Neurosurgery. 2014. PMID: 24867207
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. 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.
114 results