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Journal Abstract Search

388 related items for PubMed ID: 15579186

  • 1. Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred.
    Elphinstone MS, Gordon RD, So A, Jeske YW, Stratakis CA, Stowasser M.
    Clin Endocrinol (Oxf); 2004 Dec; 61(6):716-23. PubMed ID: 15579186
    [Abstract] [Full Text] [Related]

  • 2. Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families.
    Sukor N, Mulatero P, Gordon RD, So A, Duffy D, Bertello C, Kelemen L, Jeske Y, Veglio F, Stowasser M.
    J Hypertens; 2008 Aug; 26(8):1577-82. PubMed ID: 18622235
    [Abstract] [Full Text] [Related]

  • 3. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
    [Abstract] [Full Text] [Related]

  • 4. Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity.
    So A, Duffy DL, Gordon RD, Jeske YW, Lin-Su K, New MI, Stowasser M.
    J Hypertens; 2005 Aug; 23(8):1477-84. PubMed ID: 16003173
    [Abstract] [Full Text] [Related]

  • 5. Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II.
    Carss KJ, Stowasser M, Gordon RD, O'Shaughnessy KM.
    J Hum Hypertens; 2011 Sep; 25(9):560-4. PubMed ID: 20927129
    [Abstract] [Full Text] [Related]

  • 6. Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.
    Nicod J, Dick B, Frey FJ, Ferrari P.
    Mol Cell Endocrinol; 2004 Feb 12; 214(1-2):167-74. PubMed ID: 15062555
    [Abstract] [Full Text] [Related]

  • 7. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II.
    Jeske YW, So A, Kelemen L, Sukor N, Willys C, Bulmer B, Gordon RD, Duffy D, Stowasser M.
    Clin Exp Pharmacol Physiol; 2008 Apr 12; 35(4):380-5. PubMed ID: 18307725
    [Abstract] [Full Text] [Related]

  • 8. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 12; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 9. Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter.
    Hansen JJ, Bross P, Westergaard M, Nielsen MN, Eiberg H, Børglum AD, Mogensen J, Kristiansen K, Bolund L, Gregersen N.
    Hum Genet; 2003 Jan 12; 112(1):71-7. PubMed ID: 12483302
    [Abstract] [Full Text] [Related]

  • 10. Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes.
    Gloyn AL, Desai M, Clark A, Levy JC, Holman RR, Frayling TM, Hattersley AT, Ashcroft SJ.
    Diabetologia; 2002 Apr 12; 45(4):580-3. PubMed ID: 12032636
    [Abstract] [Full Text] [Related]

  • 11. Exon/intron boundaries, novel polymorphisms, and association analysis with schizophrenia of the human synaptic vesicle monoamine transporter (SVMT) gene.
    Kunugi H, Ishida S, Akahane A, Nanko S.
    Mol Psychiatry; 2001 Jul 12; 6(4):456-60. PubMed ID: 11443533
    [Abstract] [Full Text] [Related]

  • 12. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
    Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J.
    BMC Cancer; 2006 Sep 29; 6():230. PubMed ID: 17010193
    [Abstract] [Full Text] [Related]

  • 13. Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
    Amsellem S, Briffaut D, Carrié A, Rabès JP, Girardet JP, Fredenrich A, Moulin P, Krempf M, Reznik Y, Vialettes B, de Gennes JL, Brukert E, Benlian P.
    Hum Genet; 2002 Dec 29; 111(6):501-10. PubMed ID: 12436241
    [Abstract] [Full Text] [Related]

  • 14. 5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene.
    Li W, Detter JC, Weiss HJ, Cramer EM, Zhang Q, Novak EK, Favier R, Kingsmore SF, Swank RT.
    Mol Genet Metab; 2000 Dec 29; 71(4):599-608. PubMed ID: 11136552
    [Abstract] [Full Text] [Related]

  • 15. The angiotensin II receptor (Agtr1a): functional regulatory polymorphisms in a locus genetically linked to blood pressure variation in the mouse.
    Wong C, Mahapatra NR, Chitbangonsyn S, Mahboubi P, Mahata M, Mahata SK, O'Connor DT.
    Physiol Genomics; 2003 Jun 24; 14(1):83-93. PubMed ID: 12697907
    [Abstract] [Full Text] [Related]

  • 16. Organization and alternative splicing of the Caenorhabditis elegans cAMP-dependent protein kinase catalytic-subunit gene (kin-1).
    Tabish M, Clegg RA, Rees HH, Fisher MJ.
    Biochem J; 1999 Apr 01; 339 ( Pt 1)(Pt 1):209-16. PubMed ID: 10085246
    [Abstract] [Full Text] [Related]

  • 17. Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).
    Makita N, Sloan-Brown K, Weghuis DO, Ropers HH, George AL.
    Genomics; 1994 Oct 01; 23(3):628-34. PubMed ID: 7851891
    [Abstract] [Full Text] [Related]

  • 18. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia].
    Lin J, Wang LY, Liu S, Pan XD, Du LP, Shi FR, Qin YW, Zhao Q, Guo HY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb 01; 21(1):14-8. PubMed ID: 14767901
    [Abstract] [Full Text] [Related]

  • 19. The gene for human protein Z is localized to chromosome 13 at band q34 and is coded by eight regular exons and one alternative exon.
    Fujimaki K, Yamazaki T, Taniwaki M, Ichinose A.
    Biochemistry; 1998 May 12; 37(19):6838-46. PubMed ID: 9578570
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis of coding sequences of the entire transforming growth factor beta type II receptor gene in sporadic human colon cancer using genomic DNA and intron primers.
    Takenoshita S, Tani M, Nagashima M, Hagiwara K, Bennett WP, Yokota J, Harris CC.
    Oncogene; 1997 Mar 13; 14(10):1255-8. PubMed ID: 9121777
    [Abstract] [Full Text] [Related]

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