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Journal Abstract Search

166 related items for PubMed ID: 2220819

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  • 3. Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
    Pillers DA, Weleber RG, Powell BR, Hanna CE, Magenis RE, Buist NR.
    Am J Med Genet; 1990 May; 36(1):23-8. PubMed ID: 2159212
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  • 4. Fluorescence in situ hybridization establishes the order cen-DXS28(C7)-DXS67(B24)-DXS68(L1)-tel in human chromosome Xp21.3.
    Trask BJ, Massa HF, Burmeister M.
    Genomics; 1992 Jun; 13(2):455-7. PubMed ID: 1612605
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  • 5. Identification of new markers in Xp21 between DXS28 (C7) and DMD.
    Worley KC, Towbin JA, Zhu XM, Barker DF, Ballabio A, Chamberlain J, Biesecker LG, Blethen SL, Brosnan P, Fox JE.
    Genomics; 1992 Aug; 13(4):957-61. PubMed ID: 1505987
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  • 7. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
    McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK.
    J Clin Invest; 1989 Jan; 83(1):95-9. PubMed ID: 2536049
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  • 8. Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
    Pillers DA, Seltzer WK, Powell BR, Ray PN, Tremblay F, La Roche GR, Lewis RA, McCabe ER, Eriksson AW, Weleber RG.
    Arch Ophthalmol; 1993 Nov; 111(11):1558-63. PubMed ID: 8240114
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  • 9. Mental retardation locus in Xp21 chromosome microdeletion.
    Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS.
    Am J Med Genet; 1993 Jun 01; 46(4):363-8. PubMed ID: 8357005
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  • 10. Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
    Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J.
    Hum Genet; 1991 Feb 01; 86(4):414-5. PubMed ID: 1999345
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  • 11. Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.
    Towbin JA, Wu DR, Chamberlain J, Larsen PD, Seltzer WK, McCabe ER.
    Hum Genet; 1989 Sep 01; 83(2):122-6. PubMed ID: 2550352
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  • 12. Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
    Jensen H, Warburg M, Sjö O, Schwartz M.
    J Med Genet; 1995 May 01; 32(5):348-51. PubMed ID: 7616540
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  • 13. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
    Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP.
    Am J Hum Genet; 1987 Mar 01; 40(3):212-27. PubMed ID: 2883886
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  • 14. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.
    Chelly J, Marlhens F, Dutrillaux B, Van Ommen GJ, Lambert M, Haioun B, Boissinot G, Fardeau M, Kaplan JC.
    Hum Genet; 1988 Mar 01; 78(3):222-7. PubMed ID: 2894344
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  • 15. DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
    Greenberg CR, Hamerton JL, Nigli M, Wrogemann K.
    Am J Hum Genet; 1987 Aug 01; 41(2):128-37. PubMed ID: 3475976
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  • 16. Assignment of the locus order DXS28-DXS67-DMD as a spin-off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy.
    Nørby S, Schwartz M.
    Clin Genet; 1987 Mar 01; 31(3):192-7. PubMed ID: 2882882
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  • 19. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
    Kenwrick S, Patterson M, Speer A, Fischbeck K, Davies K.
    Cell; 1987 Jan 30; 48(2):351-7. PubMed ID: 3026644
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  • 20. Physical mapping distal to the DMD locus.
    Love DR, Bloomfield JF, Kenwrick SJ, Yates JR, Davies KE.
    Genomics; 1990 Sep 30; 8(1):106-12. PubMed ID: 2081587
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