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Journal Abstract Search

289 related items for PubMed ID: 9185526

  • 1.
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  • 2. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
    Tonacchera M, Agretti P, Pinchera A, Rosellini V, Perri A, Collecchi P, Vitti P, Chiovato L.
    J Clin Endocrinol Metab; 2000 Mar; 85(3):1001-8. PubMed ID: 10720030
    [Abstract] [Full Text] [Related]

  • 3. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
    Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P.
    Thyroid; 2001 Oct; 11(10):977-80. PubMed ID: 11716047
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  • 4. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).
    Fricke-Otto S, Pfarr N, Mühlenberg R, Pohlenz J.
    Exp Clin Endocrinol Diabetes; 2005 Dec; 113(10):582-5. PubMed ID: 16320156
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  • 6. The gene for the thyrotropin receptor (TSHR) as a candidate gene for congenital hypothyroidism with thyroid dysgenesis.
    Krude H, Biebermann H, Göpel W, Grüters A.
    Exp Clin Endocrinol Diabetes; 1996 Dec; 104 Suppl 4():117-20. PubMed ID: 8981017
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  • 7. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
    Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A.
    J Clin Endocrinol Metab; 1997 Oct; 82(10):3471-80. PubMed ID: 9329388
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  • 8. Identification of TSH receptor mutations in three families with resistance to TSH.
    Tonacchera M, Di Cosmo C, De Marco G, Agretti P, Banco M, Perri A, Gianetti E, Montanelli L, Vitti P, Pinchera A.
    Clin Endocrinol (Oxf); 2007 Nov; 67(5):712-8. PubMed ID: 17697008
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  • 9. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
    Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P.
    J Clin Endocrinol Metab; 2001 Aug; 86(8):3962-7. PubMed ID: 11502839
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  • 10. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
    Nogueira CR, Nguyen LQ, Coelho-Neto JR, Arseven OK, Jameson JL, Kopp P, Medeiros-Neto GA.
    Thyroid; 1999 Jun; 9(6):523-9. PubMed ID: 10411113
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  • 11. Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
    De Marco G, Agretti P, Camilot M, Teofoli F, Tatò L, Vitti P, Pinchera A, Tonacchera M.
    Clin Endocrinol (Oxf); 2009 Feb; 70(2):335-8. PubMed ID: 18727713
    [Abstract] [Full Text] [Related]

  • 12. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study.
    Gaudino R, Garel C, Czernichow P, Léger J.
    Clin Endocrinol (Oxf); 2005 Apr; 62(4):444-8. PubMed ID: 15807875
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.
    Russo D, Betterle C, Arturi F, Chiefari E, Girelli ME, Filetti S.
    J Clin Endocrinol Metab; 2000 Nov; 85(11):4238-42. PubMed ID: 11095460
    [Abstract] [Full Text] [Related]

  • 14. Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene.
    Biebermann H, Grüters A, Schöneberg T, Gudermann T.
    N Engl J Med; 1997 May 08; 336(19):1390-1. PubMed ID: 9139226
    [No Abstract] [Full Text] [Related]

  • 15. Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
    Richter-Unruh A, Hauffa BP, Pfarr N, Pohlenz J.
    Thyroid; 2004 Nov 08; 14(11):971-4. PubMed ID: 15671778
    [Abstract] [Full Text] [Related]

  • 16. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
    Camilot M, Teofoli F, Gandini A, Franceschi R, Rapa A, Corrias A, Bona G, Radetti G, Tatò L.
    Clin Endocrinol (Oxf); 2005 Aug 08; 63(2):146-51. PubMed ID: 16060907
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  • 17. [Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].
    Matsushita A, Nakamura H.
    Nihon Rinsho; 2002 Feb 08; 60(2):284-90. PubMed ID: 11857915
    [Abstract] [Full Text] [Related]

  • 18. Genetics of congenital hypothyroidism.
    Park SM, Chatterjee VK.
    J Med Genet; 2005 May 08; 42(5):379-89. PubMed ID: 15863666
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  • 20. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?
    Gagné N, Parma J, Deal C, Vassart G, Van Vliet G.
    J Clin Endocrinol Metab; 1998 May 08; 83(5):1771-5. PubMed ID: 9589691
    [Abstract] [Full Text] [Related]

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