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Journal Abstract Search

240 related items for PubMed ID: 19158199

  • 1. 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; 94(4):1317-23. PubMed ID: 19158199
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
    Ma SG, Fang PH, Hong B, Yu WN.
    J Pediatr Endocrinol Metab; 2010 Dec 01; 23(12):1339-44. PubMed ID: 21714469
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
    Narumi S, Nagasaki K, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T.
    J Clin Endocrinol Metab; 2011 Aug 14; 96(8):E1340-5. PubMed ID: 21677043
    [Abstract] [Full Text] [Related]

  • 6. Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
    Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, Hong YH, Lee YW, Ki CS.
    Clin Endocrinol (Oxf); 2011 Nov 14; 75(5):715-21. PubMed ID: 21707688
    [Abstract] [Full Text] [Related]

  • 7. 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 14; 70(2):335-8. PubMed ID: 18727713
    [Abstract] [Full Text] [Related]

  • 8. 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 14; 25(3):292-9. PubMed ID: 25557138
    [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 14; 21(2):103-9. PubMed ID: 21186955
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 113(10):582-5. PubMed ID: 16320156
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 82(10):3471-80. PubMed ID: 9329388
    [Abstract] [Full Text] [Related]

  • 12. [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]

  • 13. 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]

  • 14. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
    Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K, Abe T, Hasegawa T.
    Eur J Endocrinol; 2018 Feb 25; 178(2):137-144. PubMed ID: 29092890
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 87(6):2549-55. PubMed ID: 12050212
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 28(7-8):777-84. PubMed ID: 25153578
    [Abstract] [Full Text] [Related]

  • 17. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.
    Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T.
    J Clin Endocrinol Metab; 2010 Apr 25; 95(4):1981-5. PubMed ID: 20157192
    [Abstract] [Full Text] [Related]

  • 18. Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
    Lábadi Á, Grassi ES, Gellén B, Kleinau G, Biebermann H, Ruzsa B, Gelmini G, Rideg O, Miseta A, Kovács GL, Patócs A, Felszeghy E, Nagy EV, Mezősi E, Persani L.
    J Clin Endocrinol Metab; 2015 Jul 25; 100(7):E1039-45. PubMed ID: 25978107
    [Abstract] [Full Text] [Related]

  • 19. High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.
    Jin HY, Heo SH, Kim YM, Kim GH, Choi JH, Lee BH, Yoo HW.
    Horm Res Paediatr; 2014 Jul 25; 82(4):252-60. PubMed ID: 25248169
    [Abstract] [Full Text] [Related]

  • 20. 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 Jul 25; 25(11-12):1153-6. PubMed ID: 23329763
    [Abstract] [Full Text] [Related]

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