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Journal Abstract Search

740 related items for PubMed ID: 10720030

  • 1. 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]

  • 2. 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; 83(5):1771-5. PubMed ID: 9589691
    [Abstract] [Full Text] [Related]

  • 3. Familial unresponsiveness to thyrotropin by autosomal recessive inheritance.
    Takamatsu J, Nishikawa M, Horimoto M, Ohsawa N.
    J Clin Endocrinol Metab; 1993 Dec; 77(6):1569-73. PubMed ID: 8263143
    [Abstract] [Full Text] [Related]

  • 4. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
    Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C.
    J Clin Invest; 1997 Jun 15; 99(12):3018-24. PubMed ID: 9185526
    [Abstract] [Full Text] [Related]

  • 5. Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.
    Tonacchera M, Perri A, De Marco G, Agretti P, Banco ME, Di Cosmo C, Grasso L, Vitti P, Chiovato L, Pinchera A.
    J Clin Endocrinol Metab; 2004 Nov 15; 89(11):5787-93. PubMed ID: 15531543
    [Abstract] [Full Text] [Related]

  • 6. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
    Park SM, Clifton-Bligh RJ, Betts P, Chatterjee VK.
    Clin Endocrinol (Oxf); 2004 Feb 15; 60(2):220-7. PubMed ID: 14725684
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 86(8):3962-7. PubMed ID: 11502839
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 9(6):523-9. PubMed ID: 10411113
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 85(11):4238-42. PubMed ID: 11095460
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 67(5):712-8. PubMed ID: 17697008
    [Abstract] [Full Text] [Related]

  • 11. The site of the molecular defect in the thyroid gland of the hyt/hyt mouse: abnormalities in the TSH receptor-G protein complex.
    Stein SA, Zakarija M, McKenzie JM, Shanklin DR, Palnitkar MB, Adams PM.
    Thyroid; 1991 Nov 15; 1(3):257-66. PubMed ID: 1668617
    [Abstract] [Full Text] [Related]

  • 12. Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness.
    Takeshita A, Nagayama Y, Yamashita S, Takamatsu J, Ohsawa N, Maesaka H, Tachibana K, Tokuhiro E, Ashizawa K, Yokoyama N.
    Thyroid; 1994 Nov 15; 4(3):255-9. PubMed ID: 7833660
    [Abstract] [Full Text] [Related]

  • 13. Evaluation and characterization of the hyt/hyt hypothyroid mouse. II. Abnormalities of TSH and the thyroid gland.
    Stein SA, Shanklin DR, Krulich L, Roth MG, Chubb CM, Adams PM.
    Neuroendocrinology; 1989 May 15; 49(5):509-19. PubMed ID: 2725843
    [Abstract] [Full Text] [Related]

  • 14. A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.
    Lado-Abeal J, Castro-Piedras I, Palos-Paz F, Labarta-Aizpún JI, Albero-Gamboa R.
    Thyroid; 2011 Feb 15; 21(2):103-9. PubMed ID: 21186955
    [Abstract] [Full Text] [Related]

  • 15. Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas.
    Castro I, Lima L, Seoane R, Lado-Abeal J.
    Thyroid; 2009 Jun 15; 19(6):645-9. PubMed ID: 19499991
    [Abstract] [Full Text] [Related]

  • 16. Imparied cyclic-AMP response to thyrotrophin in congenital hypothyroidism with thyroglobulin deficiency.
    Medeiros-Neto GA, Knobel M, Bronstein MD, Simonetti J, Filho FF, Mattar E.
    Acta Endocrinol (Copenh); 1979 Sep 15; 92(1):62-72. PubMed ID: 227208
    [Abstract] [Full Text] [Related]

  • 17. The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism.
    Fisher DA, Schoen EJ, La Franchi S, Mandel SH, Nelson JC, Carlton EI, Goshi JH.
    J Clin Endocrinol Metab; 2000 Aug 15; 85(8):2722-7. PubMed ID: 10946871
    [Abstract] [Full Text] [Related]

  • 18. Pituitary-thyroid feedback in a patient with a sporadic activating thyrotropin (TSH) receptor mutation: implication that thyroid-secreted factors other than thyroid hormones contribute to serum TSH levels.
    Gelwane G, de Roux N, Chevenne D, Carel JC, Léger J.
    J Clin Endocrinol Metab; 2009 Aug 15; 94(8):2787-91. PubMed ID: 19454581
    [Abstract] [Full Text] [Related]

  • 19. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.
    Bonomi M, Proverbio MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L.
    J Clin Endocrinol Metab; 2001 Apr 15; 86(4):1600-4. PubMed ID: 11297590
    [Abstract] [Full Text] [Related]

  • 20. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
    Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L.
    J Clin Endocrinol Metab; 2002 Jun 15; 87(6):2549-55. PubMed ID: 12050212
    [Abstract] [Full Text] [Related]

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