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Journal Abstract Search

187 related items for PubMed ID: 8592334

  • 1. Gonadal mosaicism for incontinentia pigmenti in a healthy male.
    Kirchman TT, Levy ML, Lewis RA, Kanzler MH, Nelson DL, Scheuerle AE.
    J Med Genet; 1995 Nov; 32(11):887-90. PubMed ID: 8592334
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  • 2. 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.
    Am J Hum Genet; 2001 Dec; 69(6):1210-7. PubMed ID: 11673821
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  • 3. X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.
    Woffendin H, Jakins T, Jouet M, Stewart H, Landy S, Haan E, Harris A, Donnai D, Read A, Kenwrick S.
    Clin Genet; 1999 Jan; 55(1):55-60. PubMed ID: 10066033
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  • 4. Incontinentia pigmenti in a boy with Klinefelter's syndrome.
    Ormerod AD, White MI, McKay E, Johnston AW.
    J Med Genet; 1987 Jul; 24(7):439-41. PubMed ID: 3612722
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  • 5. Linkage analysis in 16 families with incontinentia pigmenti.
    Jouet M, Stewart H, Landy S, Yates J, Yong SL, Harris A, Garret C, Hatchwell E, Read A, Donnai D, Kenwrick S.
    Eur J Hum Genet; 1997 Jul; 5(3):168-70. PubMed ID: 9272741
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  • 6. Incontinentia pigmenti: transmission from father to daughter.
    Emery MM, Siegfried EC, Stone MS, Stone EM, Patil SR.
    J Am Acad Dermatol; 1993 Aug; 29(2 Pt 2):368-72. PubMed ID: 8340517
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  • 14. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.
    Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL.
    Hum Mol Genet; 1996 Nov; 5(11):1777-83. PubMed ID: 8923006
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  • 15. Incontinentia pigmenti in a newborn male infant with DNA confirmation.
    Roberts JL, Morrow B, Vega-Rich C, Salafia CM, Nitowsky HM.
    Am J Med Genet; 1998 Jan 13; 75(2):159-63. PubMed ID: 9450877
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  • 17. Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males.
    Traupe H, Vehring KH.
    Am J Med Genet; 1994 Feb 15; 49(4):397-8. PubMed ID: 8160732
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  • 18. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
    Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM.
    Am J Hum Genet; 2000 Dec 15; 67(6):1555-62. PubMed ID: 11047757
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  • 20. Incontinentia pigmenti in male patients.
    Pacheco TR, Levy M, Collyer JC, de Parra NP, Parra CA, Garay M, Aprea G, Moreno S, Mancini AJ, Paller AS.
    J Am Acad Dermatol; 2006 Aug 15; 55(2):251-5. PubMed ID: 16844507
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