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402 related items for PubMed ID: 25557138

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
    Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, Barkoff MS, Dahood AM, Refetoff S.
    J Clin Endocrinol Metab; 2009 May; 94(5):1706-12. PubMed ID: 19240155
    [Abstract] [Full Text] [Related]

  • 3. Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
    Vigone MC, Di Frenna M, Guizzardi F, Gelmini G, de Filippis T, Mora S, Caiulo S, Sonnino M, Bonomi M, Persani L, Weber G.
    Clin Endocrinol (Oxf); 2017 Nov; 87(5):587-596. PubMed ID: 28561265
    [Abstract] [Full Text] [Related]

  • 4. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
    Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S.
    J Clin Endocrinol Metab; 2011 Jun; 96(6):E1001-6. PubMed ID: 21490078
    [Abstract] [Full Text] [Related]

  • 5. 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; 60(2):220-7. PubMed ID: 14725684
    [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; 63(2):146-51. PubMed ID: 16060907
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
    Fu C, Wang J, Luo S, Yang Q, Li Q, Zheng H, Hu X, Su J, Zhang S, Chen R, Luo J, Zhang Y, Shen Y, Wei H, Meng D, Gui B, Zeng Z, Fan X, Chen S.
    Clin Chim Acta; 2016 Nov 01; 462():127-132. PubMed ID: 27637299
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 82(10):3471-80. PubMed ID: 9329388
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 113(10):582-5. PubMed ID: 16320156
    [Abstract] [Full Text] [Related]

  • 12. R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
    Chang WC, Liao CY, Chen WC, Fan YC, Chiu SJ, Kuo HC, Woon PY, Chao MC.
    Clin Chim Acta; 2012 Jun 14; 413(11-12):1004-7. PubMed ID: 22405933
    [Abstract] [Full Text] [Related]

  • 13. [Pathogenic TSHR variants in children with thyroid dysgenesis].
    Shreder EV, Vadina TA, Solodovnikova EN, Zakharova VV, Degtyarev MV, Konyukhova MB, Sergeeva NV, Bezlepkina OB.
    Probl Endokrinol (Mosk); 2023 Feb 25; 69(1):76-85. PubMed ID: 36842079
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 89(11):5787-93. PubMed ID: 15531543
    [Abstract] [Full Text] [Related]

  • 15. Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene.
    Satoh M, Aso K, Ogikubo S, Yoshizawa-Ogasawara A, Saji T.
    J Pediatr Endocrinol Metab; 2015 May 25; 28(5-6):657-61. PubMed ID: 25928756
    [Abstract] [Full Text] [Related]

  • 16. 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 May 25; 104 Suppl 4():117-20. PubMed ID: 8981017
    [Abstract] [Full Text] [Related]

  • 17. TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
    Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T.
    J Clin Endocrinol Metab; 2009 Apr 25; 94(4):1317-23. PubMed ID: 19158199
    [Abstract] [Full Text] [Related]

  • 18. Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
    Xie J, Pannain S, Pohlenz J, Weiss RE, Moltz K, Morlot M, Asteria C, Persani L, Beck-Peccoz P, Parma J, Vassart G, Refetoff S.
    J Clin Endocrinol Metab; 1997 Dec 25; 82(12):3933-40. PubMed ID: 9398691
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 94(11):4187-94. PubMed ID: 19820021
    [Abstract] [Full Text] [Related]

  • 20. Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.
    Kanda K, Mizuno H, Sugiyama Y, Imamine H, Togari H, Onigata K.
    Endocrine; 2006 Dec 25; 30(3):383-8. PubMed ID: 17526952
    [Abstract] [Full Text] [Related]

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