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Journal Abstract Search

127 related items for PubMed ID: 3947601

  • 1. Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.
    Ohba N, Yamashita T.
    Br J Ophthalmol; 1986 Jan; 70(1):64-71. PubMed ID: 3947601
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  • 2. Falciform fold, retinal detachment, and Norrie's disease.
    Jacklin HN.
    Am J Ophthalmol; 1980 Jul; 90(1):76-80. PubMed ID: 7395960
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  • 3. The molecular biology of Norrie's disease.
    Black G, Redmond RM.
    Eye (Lond); 1994 Jul; 8 ( Pt 5)():491-6. PubMed ID: 7835440
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  • 4. Ultrastructural study of Norrie's disease.
    Enyedi LB, de Juan E, Gaitan A.
    Am J Ophthalmol; 1991 Apr 15; 111(4):439-45. PubMed ID: 1781818
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  • 5. Primary vitreoretinal dysplasia transmitted as an autosomal recessive disorder.
    Ohba N, Watanabe S, Fujita S.
    Br J Ophthalmol; 1981 Sep 15; 65(9):631-5. PubMed ID: 7295630
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  • 6. Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
    Mossman J, Blunt S, Stephens R, Jones EE, Pembrey M.
    Arch Dis Child; 1983 Nov 15; 58(11):911-5. PubMed ID: 6418082
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  • 10. Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.
    Leisti JT, Kaback MM, Rimoin DL.
    Am J Hum Genet; 1975 Jul 15; 27(4):441-53. PubMed ID: 1155455
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  • 12. Bilateral Norrie's disease in identical twins.
    Sukumaran K.
    Br J Ophthalmol; 1991 Mar 15; 75(3):179-80. PubMed ID: 2012789
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  • 13. A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.
    Hodgson SV, Heckmatt JZ, Hughes E, Crolla JA, Dubowitz V, Bobrow M.
    Am J Med Genet; 1986 Mar 15; 23(3):837-47. PubMed ID: 3953680
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  • 14. 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 15; 35(8):783-6. PubMed ID: 10216575
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  • 15. Chromosome banding patterns of four species of bats, with special reference to a case of X-autosome translocation.
    Kasahara S, Dutrillaux B.
    Ann Genet; 1983 Aug 15; 26(4):197-201. PubMed ID: 6607698
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  • 16. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
    Panasiuk B, Usinskiené R, Kostyk E, Rybałko A, Stasiewicz-Jarocka B, Krzykwa B, Pieńkowska-Grela B, Kucinskas V, Michalova K, Midro AT.
    Ann Genet; 2004 Aug 15; 47(1):11-28. PubMed ID: 15050871
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  • 17. H-Y antigen in human X-autosome translocations.
    Mayerova A, Zuffardi O, Maraschio P, Muller U, Sperling K, Ropers HH, Fraccaro M, Wolf U.
    Acta Anthropogenet; 1983 Aug 15; 7(2):119-31. PubMed ID: 6611162
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  • 20. X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.
    Limon J, Filipiuk J, Nedoszytko B, Mrózek K, Castrén M, Larramendy M, Roszkiewicz J.
    Hum Genet; 1991 Jul 15; 87(3):338-40. PubMed ID: 1864610
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