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173 related items for PubMed ID: 15957001

  • 1. Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.
    Ars E, Tazón-Vega B, Ruiz P, Nogués C, Arnedo N, Rajmil O, Torra R.
    Eur J Hum Genet; 2005 Sep; 13(9):1040-6. PubMed ID: 15957001
    [Abstract] [Full Text] [Related]

  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 3. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
    Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.
    Eur J Med Genet; 2005 Aug; 48(2):159-66. PubMed ID: 16053907
    [Abstract] [Full Text] [Related]

  • 4. Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome.
    Shimizu Y, Nagata M, Usui J, Hirayama K, Yoh K, Yamagata K, Kobayashi M, Koyama A.
    Nephrol Dial Transplant; 2006 Jun; 21(6):1582-7. PubMed ID: 16517570
    [Abstract] [Full Text] [Related]

  • 5. Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y.
    Arnedo N, Templado C, Sánchez-Blanque Y, Rajmil O, Nogués C.
    Hum Reprod; 2006 Feb; 21(2):524-8. PubMed ID: 16199425
    [Abstract] [Full Text] [Related]

  • 6. Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients.
    Iitsuka Y, Bock A, Nguyen DD, Samango-Sprouse CA, Simpson JL, Bischoff FZ.
    Am J Med Genet; 2001 Jan 01; 98(1):25-31. PubMed ID: 11426451
    [Abstract] [Full Text] [Related]

  • 7. Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.
    Zaki MS, Kamel AA, El-Ruby M.
    Genet Couns; 2005 Jan 01; 16(4):393-402. PubMed ID: 16440882
    [Abstract] [Full Text] [Related]

  • 8. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
    Nagel M, Nagorka S, Gross O.
    Hum Mutat; 2005 Jul 01; 26(1):60. PubMed ID: 15954103
    [Abstract] [Full Text] [Related]

  • 9. A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.
    Mark HF, Bai H, Sotomayor E, Mark S, Zolnierz K, Airall E, Sigman M.
    Exp Mol Pathol; 1999 Sep 01; 67(1):50-6. PubMed ID: 10493892
    [Abstract] [Full Text] [Related]

  • 10. Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome.
    Lenz P, Luetjens CM, Kamischke A, Kühnert B, Kennerknecht I, Nieschlag E.
    Hum Reprod; 2005 May 01; 20(5):1248-55. PubMed ID: 15665007
    [Abstract] [Full Text] [Related]

  • 11. Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.
    Shaw EA, Colville D, Wang YY, Zhang KW, Dagher H, Fassett R, Guymer R, Savige J.
    Nephrol Dial Transplant; 2007 Jan 01; 22(1):104-8. PubMed ID: 17071739
    [Abstract] [Full Text] [Related]

  • 12. [Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome].
    Peng CL, Liang H, Z ou QL, Wang J, Liu CS, Zhang XF, Chen J, Hu SN.
    Yi Chuan Xue Bao; 2004 Nov 01; 31(11):1190-5. PubMed ID: 15651669
    [Abstract] [Full Text] [Related]

  • 13. Autosomal dominant nephritis with renal failure of non-Alport type: clinical and molecular studies.
    Ilan T, Shohat T, Tobar A, Magal N, Yahav M, Halpern GJ, Rechavi G, Shohat M.
    Isr Med Assoc J; 2001 Jul 01; 3(7):488-91. PubMed ID: 11791413
    [Abstract] [Full Text] [Related]

  • 14. [Segregation of sex chromosomes in the spermatozoa of 46, XY/47, XXY patients with oligozoospermia by dual fluorescence in-situ hybridization].
    Cui Y, Ge Y, Wang Y, Zhou Q, Wang Y, Zhu P, Shang X, Huang Y.
    Zhonghua Nan Ke Xue; 2004 Nov 01; 10(11):841-3. PubMed ID: 15595687
    [Abstract] [Full Text] [Related]

  • 15. Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
    King K, Flinter FA, Nihalani V, Green PM.
    Hum Genet; 2002 Dec 01; 111(6):548-54. PubMed ID: 12436246
    [Abstract] [Full Text] [Related]

  • 16. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
    Tazón-Vega B, Ars E, Burset M, Santín S, Ruíz P, Fernández-Llama P, Ballarín J, Torra R.
    Am J Kidney Dis; 2007 Aug 01; 50(2):257.e1-14. PubMed ID: 17660027
    [Abstract] [Full Text] [Related]

  • 17. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.
    Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E.
    Mol Hum Reprod; 2007 Oct 01; 13(10):745-50. PubMed ID: 17720778
    [Abstract] [Full Text] [Related]

  • 18. Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.
    Tug E, Percin FE, Pala E, Baysoy G.
    Genet Couns; 2011 Oct 01; 22(2):143-53. PubMed ID: 21848006
    [Abstract] [Full Text] [Related]

  • 19. Klinefelter variant mosaic with a reciprocal translocation t(1;7).
    Vasu V, Chandra N, Jayashankar M, Santhiya ST.
    Fertil Steril; 2008 Nov 01; 90(5):2017.e15-7. PubMed ID: 18304545
    [Abstract] [Full Text] [Related]

  • 20. A boy with small supernumerary marker chromosome X identified by FISH.
    Koç A, Yirmibeş Karaoğuz M, Pala E, Kan D, Karaer K, Gücüyener K, Perçin EF.
    Genet Couns; 2007 Nov 01; 18(4):393-9. PubMed ID: 18286820
    [Abstract] [Full Text] [Related]

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