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184 related items for PubMed ID: 21490078

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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; 75(5):715-21. PubMed ID: 21707688
    [Abstract] [Full Text] [Related]

  • 5. Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
    Sriphrapradang C, German A, Dumitrescu AM, Refetoff S.
    Thyroid; 2012 Mar; 22(3):252-7. PubMed ID: 22313426
    [Abstract] [Full Text] [Related]

  • 6. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
    Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S.
    Clin Endocrinol (Oxf); 2007 May; 66(5):695-702. PubMed ID: 17381485
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
    Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N.
    J Clin Endocrinol Metab; 2016 Dec; 101(12):4521-4531. PubMed ID: 27525530
    [Abstract] [Full Text] [Related]

  • 11. Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.
    Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Lee SM, Kwak MJ.
    Ann Clin Lab Sci; 2021 Jan; 51(1):73-81. PubMed ID: 33653783
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.
    Deeb A, Elkadry I, Attia S, Al Suwaidi H, Obaid L, Schoenmakers NA.
    J Pediatr Endocrinol Metab; 2016 Jul 01; 29(7):801-6. PubMed ID: 27060741
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 94(4):1317-23. PubMed ID: 19158199
    [Abstract] [Full Text] [Related]

  • 15. Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism.
    Kollati Y, Akella RRD, Naushad SM, Borkar D, Thalla M, Nagalingam S, Lingappa L, Patel RK, Reddy GB, Dirisala VR.
    Mol Biol Rep; 2020 Oct 01; 47(10):7467-7475. PubMed ID: 32930933
    [Abstract] [Full Text] [Related]

  • 16. Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
    Yeste D, Baz-Redón N, Antolín M, Garcia-Arumí E, Mogas E, Campos-Martorell A, González-Llorens N, Aguilar-Riera C, Soler-Colomer L, Clemente M, Fernández-Cancio M, Camats-Tarruella N.
    Int J Mol Sci; 2024 Sep 18; 25(18):. PubMed ID: 39337518
    [Abstract] [Full Text] [Related]

  • 17. 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 18; 63(2):146-51. PubMed ID: 16060907
    [Abstract] [Full Text] [Related]

  • 18. 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 18; 87(6):2549-55. PubMed ID: 12050212
    [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 Jun 18; 82(4):252-60. PubMed ID: 25248169
    [Abstract] [Full Text] [Related]

  • 20. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism.
    Tanaka T, Aoyama K, Suzuki A, Saitoh S, Mizuno H.
    J Pediatr Endocrinol Metab; 2020 May 29; 33(6):691-701. PubMed ID: 32469330
    [Abstract] [Full Text] [Related]

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