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Gonadal mosaicism for incontinentia pigmenti in a healthy male.
Kirchman TT, Levy ML, Lewis RA, Kanzler MH, Nelson DL, Scheuerle AE. Kirchman TT, et al. Among authors: lewis ra. J Med Genet. 1995 Nov;32(11):887-90. doi: 10.1136/jmg.32.11.887. J Med Genet. 1995. PMID: 8592334 Free PMC article.
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: lewis ra. 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.
Mutation analysis of the DKC1 gene in incontinentia pigmenti.
Heiss NS, Poustka A, Knight SW, Aradhya S, Nelson DL, Lewis RA, Esposito T, Ciccodicola A, D'Urso M, Smahi A, Heuertz S, Munnich A, Vabres P, Woffendin H, Kenwrick S. Heiss NS, et al. Among authors: lewis ra. J Med Genet. 1999 Nov;36(11):860-2. J Med Genet. 1999. PMID: 10636732 Free PMC article. No abstract available.
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: lewis ra. 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.
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.
Aradhya S, Ahobila P, Lewis RA, Nelson DL, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Woffendin H, Kenwrick S, Smahi A, Heuertz S, Munnich A, Heiss NS, Poustka A, Chishti AH. Aradhya S, et al. Among authors: lewis ra. Am J Med Genet. 2000 Sep 4;94(1):79-84. doi: 10.1002/1096-8628(20000904)94:1<79::aid-ajmg17>3.0.co;2-m. Am J Med Genet. 2000. PMID: 10982489 No abstract available.
1,076 results