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Journal Abstract Search

161 related items for PubMed ID: 9817592

  • 1. Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia.
    Wu SM, Hallermeier KM, Laue L, Brain C, Berry AC, Grant DB, Griffin JE, Wilson JD, Cutler GB, Chan WY.
    Mol Endocrinol; 1998 Nov; 12(11):1651-60. PubMed ID: 9817592
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  • 2. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
    Laue LL, Wu SM, Kudo M, Bourdony CJ, Cutler GB, Hsueh AJ, Chan WY.
    Mol Endocrinol; 1996 Aug; 10(8):987-97. PubMed ID: 8843415
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  • 3. A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.
    Laue L, Wu SM, Kudo M, Hsueh AJ, Cutler GB, Griffin JE, Wilson JD, Brain C, Berry AC, Grant DB.
    Hum Mol Genet; 1995 Aug; 4(8):1429-33. PubMed ID: 7581384
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  • 4. Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.
    Martens JW, Lumbroso S, Verhoef-Post M, Georget V, Richter-Unruh A, Szarras-Czapnik M, Romer TE, Brunner HG, Themmen AP, Sultan Ch.
    J Clin Endocrinol Metab; 2002 Jun; 87(6):2506-13. PubMed ID: 12050206
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  • 5. A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.
    Leung MY, Al-Muslim O, Wu SM, Aziz A, Inam S, Awadh M, Rennert OM, Chan WY.
    Am J Med Genet A; 2004 Oct 01; 130A(2):146-53. PubMed ID: 15372531
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  • 6. A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.
    Latronico AC, Chai Y, Arnhold IJ, Liu X, Mendonca BB, Segaloff DL.
    Mol Endocrinol; 1998 Mar 01; 12(3):442-50. PubMed ID: 9514160
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  • 7. Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.
    Latronico AC, Shinozaki H, Guerra G, Pereira MA, Lemos Marini SH, Baptista MT, Arnhold IJ, Fanelli F, Mendonca BB, Segaloff DL.
    J Clin Endocrinol Metab; 2000 Dec 01; 85(12):4799-805. PubMed ID: 11134146
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  • 8. Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene.
    Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP.
    Clin Endocrinol (Oxf); 2002 Jan 01; 56(1):103-12. PubMed ID: 11849253
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  • 10. A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity.
    Wu SM, Leschek EW, Brain C, Chan WY.
    Mol Genet Metab; 1999 Jan 01; 66(1):68-73. PubMed ID: 9973550
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  • 11. Biological effect of a novel mutation in the third leucine-rich repeat of human luteinizing hormone receptor.
    Leung MY, Steinbach PJ, Bear D, Baxendale V, Fechner PY, Rennert OM, Chan WY.
    Mol Endocrinol; 2006 Oct 01; 20(10):2493-503. PubMed ID: 16709601
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  • 14. Mutation of a highly conserved acidic residue present in the second intracellular loop of G-protein-coupled receptors does not impair hormone binding or signal transduction of the luteinizing hormone/chorionic gonadotropin receptor.
    Wang Z, Wang H, Ascoli M.
    Mol Endocrinol; 1993 Jan 01; 7(1):85-93. PubMed ID: 8383288
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  • 17. Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.
    Richter-Unruh A, Verhoef-Post M, Malak S, Homoki J, Hauffa BP, Themmen AP.
    J Clin Endocrinol Metab; 2004 Oct 01; 89(10):5161-7. PubMed ID: 15472221
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