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Journal Abstract Search

131 related items for PubMed ID: 2906226

  • 1. 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; 31(1):75-97. PubMed ID: 2906226
    [Abstract] [Full Text] [Related]

  • 2. 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; 36(1):23-8. PubMed ID: 2159212
    [Abstract] [Full Text] [Related]

  • 3. [Congenital adrenal hypoplasia of cytomegalic type. Recessive, sex-linked form. Apropos of 3 cases].
    Mamelle JC, David M, Riou D, Gilly J, Trouillas J, Dutruge J, Gilly R.
    Arch Fr Pediatr; 1975 Feb; 32(2):139-59. PubMed ID: 1217948
    [Abstract] [Full Text] [Related]

  • 4. [Gonadotropic insufficiency associated with the cytomegalic type of congenital adrenal hypoplasia (author's transl)].
    Chaussain JL, Roger M, Job JC.
    Arch Fr Pediatr; 1982 Feb; 39(2):109-10. PubMed ID: 6803733
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. [Complex glycerol kinase deficiency in three children].
    Li XZ, Liu L, Mei HF.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct 01; 9(5):441-4. PubMed ID: 17937854
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 77(4):379-83. PubMed ID: 2891606
    [Abstract] [Full Text] [Related]

  • 8. [Congenital adrenal gland insufficiency and myopathy].
    Pietschnig B, Kohlhauser C, Bittner RE, Amann G, Dobner M, Gratzl R.
    Wien Klin Wochenschr; 1995 Dec 01; 107(4):149-52. PubMed ID: 7709632
    [Abstract] [Full Text] [Related]

  • 9. Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci.
    Goonewardena P, Dahl N, Ritzén M, van Ommen GJ, Pettersson U.
    Clin Genet; 1989 Jan 01; 35(1):5-12. PubMed ID: 2564327
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 29(3):557-64. PubMed ID: 2837087
    [Abstract] [Full Text] [Related]

  • 11. Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.
    Malpuech G, Vanlieferinghen P, Dechelotte P, Gaulme J, Labbé A, Guiot F.
    Am J Med Genet; 1988 Jan 01; 29(1):125-30. PubMed ID: 2830787
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 117(2):e322-7. PubMed ID: 16390921
    [Abstract] [Full Text] [Related]

  • 13. Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
    Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.
    Hum Mutat; 2001 Oct 01; 18(4):308-18. PubMed ID: 11668614
    [Abstract] [Full Text] [Related]

  • 14. Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers.
    Stratakis CA, Lin JP, Pras E, Rennert OM, Bourdony CJ, Chan WY.
    Proc Assoc Am Physicians; 1997 Sep 01; 109(5):478-82. PubMed ID: 9285947
    [Abstract] [Full Text] [Related]

  • 15. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
    Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP.
    Am J Hum Genet; 1987 Mar 01; 40(3):212-27. PubMed ID: 2883886
    [Abstract] [Full Text] [Related]

  • 16. Micropenis and congenital adrenal hypoplasia.
    Bourgeois MJ, Jones B, Waagner DC, Dunn D.
    Am J Perinatol; 1989 Jan 01; 6(1):69-71. PubMed ID: 2910322
    [Abstract] [Full Text] [Related]

  • 17. X-linked congenital adrenal hypoplasia: proposal pathogenesis.
    Preeyasombat C, Sriphrapradang A, Chaubtam L.
    J Med Assoc Thai; 1989 Jan 01; 72 Suppl 1():164-73. PubMed ID: 2732638
    [Abstract] [Full Text] [Related]

  • 18. [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 01; 37(2):155-62. PubMed ID: 2545811
    [Abstract] [Full Text] [Related]

  • 19. IMAGe association: additional clinical features and evidence for recessive autosomal inheritance.
    Lienhardt A, Mas JC, Kalifa G, Chaussain JL, Tauber M.
    Horm Res; 2002 Jun 01; 57 Suppl 2():71-8. PubMed ID: 12065932
    [Abstract] [Full Text] [Related]

  • 20. Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus.
    Langley JM, Balfe JW, Selander T, Ray PN, Clarke JT.
    Am J Med Genet; 1991 Jan 01; 38(1):90-4. PubMed ID: 1672792
    [Abstract] [Full Text] [Related]

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