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Journal Abstract Search

135 related items for PubMed ID: 1549574

  • 21. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
    Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4096-104. PubMed ID: 18487380
    [Abstract] [Full Text] [Related]

  • 22. Rapid preparation of diagnostic probes for the fragile X syndrome by direct PCR amplification of human chromosomal DNA.
    Yamauchi M, Seki N, Hori T.
    Jpn J Hum Genet; 1992 Sep; 37(3):195-203. PubMed ID: 1472701
    [Abstract] [Full Text] [Related]

  • 23. Aberrant splicing of the CHM gene is a significant cause of choroideremia.
    Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP, de la Chapelle A.
    Nat Genet; 1992 May; 1(2):109-13. PubMed ID: 1302003
    [Abstract] [Full Text] [Related]

  • 24. Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation.
    Maeda M, Bawle EV, Kulkarni R, Beutler E, Yoshida A.
    Blood; 1992 May 15; 79(10):2759-62. PubMed ID: 1586722
    [Abstract] [Full Text] [Related]

  • 25. Prenatal diagnosis of choroideremia.
    Schwartz M, Rosenberg T.
    Acta Ophthalmol Scand Suppl; 1996 May 15; (219):33-6. PubMed ID: 8741114
    [Abstract] [Full Text] [Related]

  • 26. A new (old) deletion in the choroideremia gene.
    Pascal O, Donnelly P, Fouanon C, Herbert O, Le Roux MG, Moisan JP.
    Hum Mol Genet; 1993 Sep 15; 2(9):1489. PubMed ID: 8242078
    [No Abstract] [Full Text] [Related]

  • 27. Organization of human T-cell receptor beta-chain genes: clusters of V beta genes are present on chromosomes 7 and 9.
    Robinson MA, Mitchell MP, Wei S, Day CE, Zhao TM, Concannon P.
    Proc Natl Acad Sci U S A; 1993 Mar 15; 90(6):2433-7. PubMed ID: 8384723
    [Abstract] [Full Text] [Related]

  • 28. New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation.
    García-Hoyos M, Sanz R, Diego-Alvarez D, Lorda-Sánchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Ramos C, Ayuso C.
    Am J Med Genet A; 2005 Nov 01; 138(4):365-8. PubMed ID: 16222660
    [Abstract] [Full Text] [Related]

  • 29. Identification of mutations in Danish choroideremia families.
    Schwartz M, Rosenberg T, van den Hurk JA, van de Pol DJ, Cremers FP.
    Hum Mutat; 1993 Nov 01; 2(1):43-7. PubMed ID: 8477262
    [Abstract] [Full Text] [Related]

  • 30. Molecular cloning and characterization of a cDNA showing negative regulation in v-src-transformed 3Y1 rat fibroblasts.
    Ozaki T, Sakiyama S.
    Proc Natl Acad Sci U S A; 1993 Apr 01; 90(7):2593-7. PubMed ID: 8385338
    [Abstract] [Full Text] [Related]

  • 31. Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II.
    von Bokhoven H, von Genderen C, Molloy CM, van de Pol DJ, Cremers CW, von Aarem A, Schwartz M, Rosenberg T, Geurts van Kessel AH, Ropers HH.
    Genomics; 1994 Jan 15; 19(2):385-7. PubMed ID: 8188272
    [Abstract] [Full Text] [Related]

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  • 35. Molecular cloning and characterization of the human cardiac Na+/Ca2+ exchanger cDNA.
    Komuro I, Wenninger KE, Philipson KD, Izumo S.
    Proc Natl Acad Sci U S A; 1992 May 15; 89(10):4769-73. PubMed ID: 1374913
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  • 37. Chromosomal localization of angiotensin II type 1 receptor isoforms in the rat.
    Lewis JL, Serikawa T, Warnock DG.
    Biochem Biophys Res Commun; 1993 Jul 30; 194(2):677-82. PubMed ID: 8343153
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  • 39. Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse.
    Bowes C, Danciger M, Kozak CA, Farber DB.
    Proc Natl Acad Sci U S A; 1989 Dec 30; 86(24):9722-6. PubMed ID: 2481314
    [Abstract] [Full Text] [Related]

  • 40. The human aminopeptidase N gene: isolation, chromosome localization, and DNA polymorphism analysis.
    Watt VM, Willard HF.
    Hum Genet; 1990 Oct 30; 85(6):651-4. PubMed ID: 1977688
    [Abstract] [Full Text] [Related]

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