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Page 1
Mutations of the BRAF gene in human cancer.
Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA. Davies H, et al. Among authors: woffendin h. Nature. 2002 Jun 27;417(6892):949-54. doi: 10.1038/nature00766. Epub 2002 Jun 9. Nature. 2002. PMID: 12068308 Free article.
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL. Tarpey P, et al. Among authors: woffendin h. Am J Hum Genet. 2004 Aug;75(2):318-24. doi: 10.1086/422703. Epub 2004 Jun 7. Am J Hum Genet. 2004. PMID: 15185169 Free PMC article.
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Smahi A, et al. Among authors: woffendin h. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.
Aradhya S, Nelson DL, Heiss NS, Poustka A, Woffendin H, Kenwrick S, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Smahi A, Munnich A, Herman GE, Lewis RA. Aradhya S, et al. Among authors: woffendin h. Am J Med Genet. 2000 Mar 20;91(3):241-4. doi: 10.1002/(sici)1096-8628(20000320)91:3<241::aid-ajmg19>3.0.co;2-j. Am J Med Genet. 2000. PMID: 10756353 No abstract available.
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson DL, Levy M, Lewis RA; International IP Consortium. Kenwrick S, et al. Among authors: woffendin h. Am J Hum Genet. 2001 Dec;69(6):1210-7. doi: 10.1086/324591. Epub 2001 Oct 22. Am J Hum Genet. 2001. PMID: 11673821 Free PMC article.
16 results