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Journal Abstract Search

306 related items for PubMed ID: 16060907

  • 1. 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; 63(2):146-51. PubMed ID: 16060907
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 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. 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; 87(6):2549-55. PubMed ID: 12050212
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  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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; 25(3):292-9. PubMed ID: 25557138
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  • 7. 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; 89(11):5787-93. PubMed ID: 15531543
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  • 8. 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; 60(6):711-8. PubMed ID: 15163335
    [Abstract] [Full Text] [Related]

  • 9. 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; 21(2):103-9. PubMed ID: 21186955
    [Abstract] [Full Text] [Related]

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

  • 11. 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]

  • 12. Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.
    Calebiro D, de Filippis T, Lucchi S, Covino C, Panigone S, Beck-Peccoz P, Dunlap D, Persani L.
    Hum Mol Genet; 2005 Oct 15; 14(20):2991-3002. PubMed ID: 16135555
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 82(10):3471-80. PubMed ID: 9329388
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  • 15. Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.
    Nicoletti A, Bal M, De Marco G, Baldazzi L, Agretti P, Menabò S, Ballarini E, Cicognani A, Tonacchera M, Cassio A.
    J Clin Endocrinol Metab; 2009 Nov 15; 94(11):4187-94. PubMed ID: 19820021
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  • 18. 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
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  • 19. Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
    Calebiro D, Gelmini G, Cordella D, Bonomi M, Winkler F, Biebermann H, de Marco A, Marelli F, Libri DV, Antonica F, Vigone MC, Cappa M, Mian C, Sartorio A, Beck-Peccoz P, Radetti G, Weber G, Persani L.
    J Clin Endocrinol Metab; 2012 Jan 15; 97(1):E156-60. PubMed ID: 22049173
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