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Journal Abstract Search

176 related items for PubMed ID: 2550352

  • 1. 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; 83(2):122-6. PubMed ID: 2550352
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  • 2. 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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  • 6. Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
    Davies KE, Patterson MN, Kenwrick SJ, Bell MV, Sloan HR, Westman JA, Elsas LJ, Mahan J.
    Am J Med Genet; 1988 Mar; 29(3):557-64. PubMed ID: 2837087
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  • 8. Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
    Marlhens F, Chelly J, Kaplan JC, Lefrancois D, Harpey JP, Dutrillaux B.
    Hum Genet; 1987 Dec; 77(4):379-83. PubMed ID: 2891606
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  • 9. Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
    Bartley JA, Patil S, Davenport S, Goldstein D, Pickens J.
    J Pediatr; 1986 Feb; 108(2):189-92. PubMed ID: 3003318
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  • 10. Isolated and contiguous glycerol kinase gene disorders: a review.
    Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT.
    J Inherit Metab Dis; 2000 Sep; 23(6):529-47. PubMed ID: 11032329
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  • 11. Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
    Matsumoto T, Kondoh T, Yoshimoto M, Fujieda K, Matsuura N, Matsuda I, Miike T, Yano K, Okuno A, Aoki Y.
    Am J Med Genet; 1988 Nov; 31(3):603-16. PubMed ID: 2852474
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  • 13. Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
    Cole DE, Clarke LA, Riddell DC, Samson KA, Seltzer WK, Salisbury S.
    Clin Chem; 1994 Nov; 40(11 Pt 1):2099-103. PubMed ID: 7955386
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  • 14. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
    Clarke A, Roberts SH, Thomas NS, Whitfield A, Williams J, Harper PS.
    J Med Genet; 1986 Dec; 23(6):501-8. PubMed ID: 3027343
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  • 15. Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
    Pillers DA, Towbin JA, Chamberlain JS, Wu D, Ranier J, Powell BR, McCabe ER.
    Am J Hum Genet; 1990 Nov; 47(5):795-801. PubMed ID: 2220819
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  • 16. DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.
    Towbin JA, Chamberlain JS, Wu DR, Pillers DA, Seltzer WK, McCabe ER.
    Genomics; 1990 Jul; 7(3):442-4. PubMed ID: 2163974
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  • 17. 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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  • 18. 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 01; 13(4):957-61. PubMed ID: 1505987
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  • 19. 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 01; 36(1):23-8. PubMed ID: 2159212
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  • 20. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
    Worley KC, Ellison KA, Zhang YH, Wang DF, Mason J, Roth EJ, Adams V, Fogt DD, Zhu XM, Towbin JA.
    Genomics; 1993 May 01; 16(2):407-16. PubMed ID: 8314578
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