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Journal Abstract Search

158 related items for PubMed ID: 3857130

  • 1. 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; 27(3):282-3. PubMed ID: 3857130
    [No Abstract] [Full Text] [Related]

  • 2. 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; 70(4):305-13. PubMed ID: 3964631
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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 Apr 25; 105 ( Pt 1)():88-93. PubMed ID: 3459299
    [Abstract] [Full Text] [Related]

  • 6. Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa.
    Aldred MA, Dry KL, Knight-Jones EB, Hardwick LJ, Teague PW, Lester DH, Brown J, Spowart G, Carothers AD, Raeburn JA.
    Am J Hum Genet; 1994 Nov 25; 55(5):916-22. PubMed ID: 7977353
    [Abstract] [Full Text] [Related]

  • 7. Norrie's disease in an Asian family.
    Harendra de Silva DG, de Silva DB.
    Br J Ophthalmol; 1988 Jan 25; 72(1):62-4. PubMed ID: 3342220
    [Abstract] [Full Text] [Related]

  • 8. Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.
    Wright AF, Bhattacharya SS, Clayton JF, Dempster M, Tippett P, McKeown CM, Jay M, Jay B, Bird AC.
    Am J Hum Genet; 1987 Oct 25; 41(4):635-44. PubMed ID: 3477957
    [Abstract] [Full Text] [Related]

  • 9. Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
    Fuchs S, van de Pol D, Beudt U, Kellner U, Meire F, Berger W, Gal A.
    Hum Mutat; 1996 Oct 25; 8(1):85-8. PubMed ID: 8807344
    [No Abstract] [Full Text] [Related]

  • 10. A progress report on the localization of Usher syndrome type II to chromosome 1q.
    Weston MD, Kimberling WJ, Möller CG, Pieke Dahl S, Smith RJ, Martini A, Milani M.
    Ann N Y Acad Sci; 1991 Oct 25; 630():284-7. PubMed ID: 1952607
    [No Abstract] [Full Text] [Related]

  • 11. No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity.
    Inglehearn CF, Jay M, Lester DH, Bashir R, Jay B, Bird AC, Wright AF, Evans HJ, Papiha SS, Bhattacharya SS.
    Genomics; 1990 Jan 25; 6(1):168-73. PubMed ID: 2303257
    [Abstract] [Full Text] [Related]

  • 12. X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome.
    Friedrich U, Warburg M, Wieacker P, Wienker TF, Gal A, Ropers HH.
    Hum Genet; 1985 Jan 25; 71(2):93-9. PubMed ID: 2995237
    [Abstract] [Full Text] [Related]

  • 13. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
    Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D.
    J Med Genet; 1995 Apr 25; 32(4):257-63. PubMed ID: 7643352
    [Abstract] [Full Text] [Related]

  • 14. [Molecular genetic diagnosis in X chromosome-linked retinitis pigmentosa].
    Hogenkamp T, Wienker TF, Majewski F, Gal A.
    Klin Monbl Augenheilkd; 1987 Oct 25; 191(4):307-9. PubMed ID: 2891868
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey.
    Vernon M.
    J Chronic Dis; 1969 Aug 25; 22(3):133-51. PubMed ID: 4897966
    [No Abstract] [Full Text] [Related]

  • 17. Non-allelic mutations in X-linked retinitis pigmentosa.
    Chen JD, Dickinson P, Gray R, Constable I, Sheffield L, Denton MJ.
    Clin Genet; 1989 May 25; 35(5):338-42. PubMed ID: 2569369
    [Abstract] [Full Text] [Related]

  • 18. Ultrastructural study of Norrie's disease.
    Van Nouhuys CE.
    Am J Ophthalmol; 1991 Oct 15; 112(4):475-7. PubMed ID: 1928264
    [No Abstract] [Full Text] [Related]

  • 19. Prenatal exclusion of Norrie's disease.
    Redmond RM, Graham CA, Kelly ED, Coleman M, Nevin NC.
    Br J Ophthalmol; 1992 Aug 15; 76(8):491-3. PubMed ID: 1390533
    [Abstract] [Full Text] [Related]

  • 20. Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
    Wright AF, Bhattacharya SS, Aldred MA, Jay M, Carothers AD, Thomas NS, Bird AC, Jay B, Evans HJ.
    J Med Genet; 1991 Jul 15; 28(7):453-7. PubMed ID: 1895315
    [Abstract] [Full Text] [Related]

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