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Journal Abstract Search

149 related items for PubMed ID: 3482910

  • 1. The use of a DNA marker for carrier diagnosis in an X-linked disorder: Norrie's disease.
    Hill DF, Chapman CJ, Gardner RJ.
    N Z Med J; 1987 Mar 25; 100(820):166-8. PubMed ID: 3482910
    [Abstract] [Full Text] [Related]

  • 2. Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis.
    Warburg M, Friedrich U, Bleeker-Wagemakers L, Wienker TF, Gal A, Ropers HH.
    Trans Ophthalmol Soc U K (1962); 1986 Mar 25; 105 ( Pt 1)():88-93. PubMed ID: 3459299
    [Abstract] [Full Text] [Related]

  • 3. Norrie's disease.
    Johnston SS, Hanna JE, Nevin NC, Bryars JH.
    Birth Defects Orig Artic Ser; 1982 Mar 25; 18(6):729-38. PubMed ID: 6890861
    [No Abstract] [Full Text] [Related]

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  • 5. Unusual presentation of Norrie's disease with hypomagnesemia.
    Kumar MS, Shenoi A, Mukta Jain M, Ashok J, Chidananda SC, Sameera P, Maseeuddin S.
    Indian Pediatr; 1998 Aug 25; 35(8):783-6. PubMed ID: 10216575
    [No Abstract] [Full Text] [Related]

  • 6. A genetic linkage study of a family with Norrie's disease.
    Esakowitz L, Clark C, Haites N, Kelly K, Johnston AW.
    Eye (Lond); 1988 Aug 25; 2 ( Pt 4)():443-7. PubMed ID: 3253138
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  • 7. Norrie's disease.
    Warburg M.
    Birth Defects Orig Artic Ser; 1971 Mar 25; 7(3):117-24. PubMed ID: 5006136
    [Abstract] [Full Text] [Related]

  • 8. Audiometric tests in gene carriers of Norrie's disease.
    Parving A, Schwartz M.
    Int J Pediatr Otorhinolaryngol; 1991 Apr 25; 21(2):103-11. PubMed ID: 1679755
    [Abstract] [Full Text] [Related]

  • 9. Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.
    Phillips CI, Newton M, Duvall J, Holloway S, Levy AM.
    Br J Ophthalmol; 1986 Apr 25; 70(4):305-13. PubMed ID: 3964631
    [Abstract] [Full Text] [Related]

  • 10. Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration.
    Warburg M.
    Acta Ophthalmol (Copenh); 1966 Apr 25; ():Suppl 89:1-47. PubMed ID: 6013082
    [No Abstract] [Full Text] [Related]

  • 11. Norrie's disease--an x-linked syndrome of retinal malformation, mental retardation and deafness.
    Holmes LB.
    N Engl J Med; 1971 Feb 18; 284(7):367-8. PubMed ID: 4992907
    [No Abstract] [Full Text] [Related]

  • 12. Prenatal exclusion of Norrie disease with flanking DNA markers.
    Gal A, Uhlhaas S, Glaser D, Grimm T.
    Am J Med Genet; 1988 Oct 18; 31(2):449-53. PubMed ID: 3068991
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  • 13. The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
    Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P.
    Genet Couns; 1994 Oct 18; 5(1):1-10. PubMed ID: 8031529
    [Abstract] [Full Text] [Related]

  • 14. A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.
    Hamel BC, Wesseling P, Renier WO, van den Helm B, Ropers HH, Kremer H, Mariman EC.
    J Med Genet; 1999 Feb 18; 36(2):140-3. PubMed ID: 10051014
    [Abstract] [Full Text] [Related]

  • 15. Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33).
    Holinski-Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A.
    Am J Med Genet; 1996 Jul 12; 64(1):125-30. PubMed ID: 8826462
    [Abstract] [Full Text] [Related]

  • 16. Norrie's disease vs. PHPV: one family's dilemma.
    LaRussa F, Wesson MD.
    J Am Optom Assoc; 1992 Jun 12; 63(6):404-8. PubMed ID: 1634741
    [Abstract] [Full Text] [Related]

  • 17. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
    Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D.
    Nat Genet; 1996 Oct 12; 14(2):177-80. PubMed ID: 8841189
    [Abstract] [Full Text] [Related]

  • 18. Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.
    Gal A, Stolzenberger C, Wienker T, Wieacker P, Ropers HH, Friedrich U, Bleeker-Wagemakers L, Pearson P, Warburg M.
    Clin Genet; 1985 Mar 12; 27(3):282-3. PubMed ID: 3857130
    [No Abstract] [Full Text] [Related]

  • 19. Linkage analysis in three families with nonspecific X-linked mental retardation.
    Claes S, Gu XX, Legius E, Lorenzetti E, Marynen P, Fryns JP, Cassiman JJ, Raeymaekers P.
    Am J Med Genet; 1996 Jul 12; 64(1):137-46. PubMed ID: 8826464
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