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Journal Abstract Search


182 related items for PubMed ID: 3163892

  • 21. Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.
    Greer WL, Mahtani MM, Kwong PC, Rubin LA, Peacocke M, Willard HF, Siminovitch KA.
    Hum Genet; 1989 Oct; 83(3):227-30. PubMed ID: 2571560
    [Abstract] [Full Text] [Related]

  • 22. Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.
    Hodgson SV, Robertson ME, Fear CN, Goodship J, Malcolm S, Jay B, Bobrow M, Pembrey ME.
    Hum Genet; 1987 Mar; 75(3):286-90. PubMed ID: 3030927
    [Abstract] [Full Text] [Related]

  • 23. The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.
    Greer WL, Peacocke M, Siminovitch KA.
    Hum Genet; 1992 Feb; 88(4):453-6. PubMed ID: 1346773
    [Abstract] [Full Text] [Related]

  • 24. Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.
    Biancalana V, Briard ML, David A, Gilgenkrantz S, Kaplan J, Mathieu M, Piussan C, Poncin J, Schinzel A, Oudet C.
    Am J Hum Genet; 1992 May; 50(5):981-7. PubMed ID: 1349200
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  • 26. Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.
    Gilgenkrantz S, Blanchet-Bardon C, Nazzaro V, Formiga L, Mujica P, Alembik Y.
    Hum Genet; 1989 Jan; 81(2):120-2. PubMed ID: 2912882
    [Abstract] [Full Text] [Related]

  • 27. Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome.
    Kloos DU, Jakubiczka S, Wienker T, Wolff G, Wieacker P.
    Hum Genet; 1997 Sep; 100(3-4):426-30. PubMed ID: 9272167
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  • 29. Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.
    Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L, Mikkelsen M, Puissant H, Piet LL, Mandel JL.
    Am J Med Genet; 1988 Sep; 30(1-2):473-83. PubMed ID: 3177465
    [Abstract] [Full Text] [Related]

  • 30. Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.
    Nussbaum RL, Lewis RA, Lesko JG, Ferrell R.
    Am J Hum Genet; 1985 May; 37(3):473-81. PubMed ID: 2988333
    [Abstract] [Full Text] [Related]

  • 31. A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia.
    Spfaer JA.
    J Med Genet; 1981 Dec; 18(6):459-60. PubMed ID: 7334506
    [Abstract] [Full Text] [Related]

  • 32. Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.
    MacDermot KD, Hultén M.
    Hum Genet; 1990 May; 84(6):577-9. PubMed ID: 2338345
    [Abstract] [Full Text] [Related]

  • 33. Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.
    Le Guern E, Ravise N, Gugenheim M, Vignal A, Penet C, Bouche P, Weissenbach J, Agid Y, Brice A.
    Neuromuscul Disord; 1994 May; 4(5-6):463-9. PubMed ID: 7881290
    [Abstract] [Full Text] [Related]

  • 34. Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.
    Kupke KG, Graeber MB, Müller U.
    Am J Hum Genet; 1992 Apr; 50(4):808-15. PubMed ID: 1550125
    [Abstract] [Full Text] [Related]

  • 35. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
    Ferguson BM, Thomas NS, Munoz F, Morgan D, Clarke A, Zonana J.
    J Med Genet; 1998 Feb; 35(2):112-5. PubMed ID: 9507389
    [Abstract] [Full Text] [Related]

  • 36. Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.
    Zonana J, Gault J, Davies KJ, Jones M, Browne D, Litt M, Brockdorff N, Rastan S, Clarke A, Thomas NS.
    Am J Hum Genet; 1993 Jan; 52(1):78-84. PubMed ID: 8434608
    [Abstract] [Full Text] [Related]

  • 37. A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia.
    Nakata M, Koshiba H, Eto K, Nance WE.
    Am J Hum Genet; 1980 Nov; 32(6):908-19. PubMed ID: 7446529
    [Abstract] [Full Text] [Related]

  • 38. Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.
    Cambiaghi S, Restano L, Pääkkönen K, Caputo R, Kere J.
    Arch Dermatol; 2000 Feb; 136(2):217-24. PubMed ID: 10677098
    [Abstract] [Full Text] [Related]

  • 39. Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.
    Kølvraa S, Kruse TA, Jensen PK, Linde KH, Vestergaard SR, Bolund L.
    Hum Genet; 1986 Nov; 74(3):284-7. PubMed ID: 2877938
    [Abstract] [Full Text] [Related]

  • 40. Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.
    Schwartz M, Yang HM, Niebuhr E, Rosenberg T, Page DC.
    Hum Genet; 1988 Feb; 78(2):156-60. PubMed ID: 3422216
    [Abstract] [Full Text] [Related]


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