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Journal Abstract Search

120 related items for PubMed ID: 15808425

  • 1. [Adrenal hypoplasia congenita: four new cases in children].
    Pélissier P, Merlin E, Prieur F, David M, Malpuech G, Forest MG, Morel Y, Nicolino M, Richard O, Stéphan JL.
    Arch Pediatr; 2005 Apr; 12(4):380-4. PubMed ID: 15808425
    [Abstract] [Full Text] [Related]

  • 2. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
    Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, Gillis D, Sagi M, Shomrat R, Kosinovsky EB, Anikster Y.
    Clin Endocrinol (Oxf); 2010 Apr; 72(4):448-54. PubMed ID: 19508677
    [Abstract] [Full Text] [Related]

  • 3. A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
    Loke KY, Poh LK, Lee WW, Lai PS.
    Horm Res; 2009 Apr; 71(5):298-304. PubMed ID: 19339795
    [Abstract] [Full Text] [Related]

  • 4. A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
    Calliari LE, Longui CA, Rocha MN, Faria CD, Kochi C, Melo MR, Melo MB, Monte O.
    Genet Mol Res; 2007 May 10; 6(2):277-83. PubMed ID: 17573657
    [Abstract] [Full Text] [Related]

  • 5. Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
    Krone N, Riepe FG, Dörr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, Sippell WG.
    Hum Mutat; 2005 May 10; 25(5):502-3. PubMed ID: 15841486
    [Abstract] [Full Text] [Related]

  • 6. Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
    Laissue P, Copelli S, Bergada I, Bergada C, Barrio G, Karaboga S, Wurtz JM, Fellous M, Lalli E, Veitia RA.
    Clin Endocrinol (Oxf); 2006 Nov 10; 65(5):681-6. PubMed ID: 17054473
    [Abstract] [Full Text] [Related]

  • 7. Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
    Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M.
    Pediatrics; 2006 Feb 10; 117(2):e322-7. PubMed ID: 16390921
    [Abstract] [Full Text] [Related]

  • 8. Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
    Burke BA, Wick MR, King R, Thompson T, Hansen J, Darrae BT, Francke U, Seltzer WK, McCabe ER, Scheithauer BW.
    Am J Med Genet; 1988 Sep 10; 31(1):75-97. PubMed ID: 2906226
    [Abstract] [Full Text] [Related]

  • 9. [Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].
    Malpuech G, Dastugue B, Giraud G, Jouanel P, Vanlieferinghen P, Carla H.
    J Genet Hum; 1989 Jun 10; 37(2):155-62. PubMed ID: 2545811
    [Abstract] [Full Text] [Related]

  • 10. [Complex glycerol kinase deficiency in three children].
    Li XZ, Liu L, Mei HF.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct 10; 9(5):441-4. PubMed ID: 17937854
    [Abstract] [Full Text] [Related]

  • 11. Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.
    Achermann JC, Silverman BL, Habiby RL, Jameson JL.
    J Pediatr; 2000 Dec 10; 137(6):878-81. PubMed ID: 11113848
    [Abstract] [Full Text] [Related]

  • 12. [Acute adrenal insufficiency in the newborn].
    Limal JM, Bouhours-Nouet N, Rouleau S, Gatelais F, Coutant R.
    Arch Pediatr; 2006 Oct 10; 13(10):1358-63. PubMed ID: 16962294
    [Abstract] [Full Text] [Related]

  • 13. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
    Goto M, Katsumata N.
    Horm Res; 2009 Oct 10; 71(2):120-4. PubMed ID: 19129717
    [Abstract] [Full Text] [Related]

  • 14. Micropenis and congenital adrenal hypoplasia.
    Bourgeois MJ, Jones B, Waagner DC, Dunn D.
    Am J Perinatol; 1989 Jan 10; 6(1):69-71. PubMed ID: 2910322
    [Abstract] [Full Text] [Related]

  • 15. X-linked congenital adrenal hypoplasia: proposal pathogenesis.
    Preeyasombat C, Sriphrapradang A, Chaubtam L.
    J Med Assoc Thai; 1989 Jan 10; 72 Suppl 1():164-73. PubMed ID: 2732638
    [Abstract] [Full Text] [Related]

  • 16. Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report.
    Durković J, Milenković T, Krone N, Parajes S, Mandić B.
    Srp Arh Celok Lek; 2014 Jan 10; 142(11-12):728-31. PubMed ID: 25731006
    [Abstract] [Full Text] [Related]

  • 17. [Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy].
    Pantoja-Martínez J, Martínez-Castellano F, Tarazona-Casany I, Buesa-Ibáñez E, Ardid-Encinar M, Esparza-Sánchez MA, Bonet-Arzo J.
    Rev Neurol; 2014 Jan 10; 44(10):606-9. PubMed ID: 17523119
    [Abstract] [Full Text] [Related]

  • 18. DAX1 origin, function, and novel role.
    Niakan KK, McCabe ER.
    Mol Genet Metab; 2005 Jan 10; 86(1-2):70-83. PubMed ID: 16146703
    [Abstract] [Full Text] [Related]

  • 19. Adrenal gland development and defects.
    Kempná P, Flück CE.
    Best Pract Res Clin Endocrinol Metab; 2008 Feb 10; 22(1):77-93. PubMed ID: 18279781
    [Abstract] [Full Text] [Related]

  • 20. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 10; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

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