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Journal Abstract Search

291 related items for PubMed ID: 8981017

  • 1. 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; 104 Suppl 4():117-20. PubMed ID: 8981017
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Genetics and phenomics of hypothyroidism due to TSH resistance.
    Persani L, Calebiro D, Cordella D, Weber G, Gelmini G, Libri D, de Filippis T, Bonomi M.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):72-82. PubMed ID: 20083154
    [Abstract] [Full Text] [Related]

  • 5. Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.
    Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, Biebermann H.
    Exp Clin Endocrinol Diabetes; 1996 Jun 30; 104 Suppl 4():121-3. PubMed ID: 8981018
    [Abstract] [Full Text] [Related]

  • 6. 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 30; 63(2):146-51. PubMed ID: 16060907
    [Abstract] [Full Text] [Related]

  • 7. [Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].
    Matsushita A, Nakamura H.
    Nihon Rinsho; 2002 Feb 30; 60(2):284-90. PubMed ID: 11857915
    [Abstract] [Full Text] [Related]

  • 8. 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 30; 60(2):220-7. PubMed ID: 14725684
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 15; 70(2):335-8. PubMed ID: 18727713
    [Abstract] [Full Text] [Related]

  • 11. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
    Tenenbaum-Rakover Y, Almashanu S, Hess O, Admoni O, Hag-Dahood Mahameed A, Schwartz N, Allon-Shalev S, Bercovich D, Refetoff S.
    Thyroid; 2015 Mar 15; 25(3):292-9. PubMed ID: 25557138
    [Abstract] [Full Text] [Related]

  • 12. Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
    Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S.
    Clin Endocrinol (Oxf); 2004 Jun 15; 60(6):711-8. PubMed ID: 15163335
    [Abstract] [Full Text] [Related]

  • 13. Pathology of the TSH receptor.
    Duprez L, Parma J, Van Sande J, Rodien P, Sabine C, Abramowicz M, Dumont JE, Vassart G.
    J Pediatr Endocrinol Metab; 1999 Apr 15; 12 Suppl 1():295-302. PubMed ID: 10698593
    [Abstract] [Full Text] [Related]

  • 14. [Disorders caused by mutations of the thyrotropin receptor].
    Kosugi S.
    Nihon Rinsho; 1998 Jul 15; 56(7):1856-60. PubMed ID: 9702065
    [Abstract] [Full Text] [Related]

  • 15. Genetics of congenital hypothyroidism.
    Park SM, Chatterjee VK.
    J Med Genet; 2005 May 15; 42(5):379-89. PubMed ID: 15863666
    [Abstract] [Full Text] [Related]

  • 16. [The thyroid as a model for molecular mechanisms in genetic diseases].
    Rivolta CM, Moya CM, Esperante SA, Gutnisky VJ, Varela V, Targovnik HM.
    Medicina (B Aires); 2005 May 15; 65(3):257-67. PubMed ID: 16042141
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
    Baş VN, Cangul H, Agladioglu SY, Kendall M, Cetinkaya S, Maher ER, Aycan Z.
    J Pediatr Endocrinol Metab; 2012 Jun 15; 25(11-12):1153-6. PubMed ID: 23329763
    [Abstract] [Full Text] [Related]

  • 19. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
    Cerqueira TL, Carré A, Chevrier L, Szinnai G, Tron E, Léger J, Cabrol S, Queinnec C, De Roux N, Castanet M, Polak M, Ramos HE.
    J Pediatr Endocrinol Metab; 2015 Jul 15; 28(7-8):777-84. PubMed ID: 25153578
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 85(3):1001-8. PubMed ID: 10720030
    [Abstract] [Full Text] [Related]

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