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Journal Abstract Search

319 related items for PubMed ID: 12566717

  • 1. Neonatal thyroid disorders.
    Grüters A, Biebermann H, Krude H.
    Horm Res; 2003; 59 Suppl 1():24-9. PubMed ID: 12566717
    [Abstract] [Full Text] [Related]

  • 2. Molecular pathogenesis of neonatal hypothyroidism.
    Krude H, Biebermann H, Schnabel D, Ambrugger P, Grüters A.
    Horm Res; 2000; 53 Suppl 1():12-8. PubMed ID: 10895037
    [Abstract] [Full Text] [Related]

  • 3. Long-term consequences of congenital hypothyroidism in the era of screening programmes.
    Grüters A, Jenner A, Krude H.
    Best Pract Res Clin Endocrinol Metab; 2002 Jun; 16(2):369-82. PubMed ID: 12064898
    [Abstract] [Full Text] [Related]

  • 4. Congenital hypothyroidism: etiologies, diagnosis, and management.
    LaFranchi S.
    Thyroid; 1999 Jul; 9(7):735-40. PubMed ID: 10447022
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 Oct; 104 Suppl 4():121-3. PubMed ID: 8981018
    [Abstract] [Full Text] [Related]

  • 7. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
    Nogueira CR, Nguyen LQ, Coelho-Neto JR, Arseven OK, Jameson JL, Kopp P, Medeiros-Neto GA.
    Thyroid; 1999 Jun; 9(6):523-9. PubMed ID: 10411113
    [Abstract] [Full Text] [Related]

  • 8. [Molecular-genetic aspects of congenital hypothyroidism].
    Lacka K, Ogrodowicz A.
    Med Wieku Rozwoj; 2004 Jun; 8(3 Pt 2):678-89. PubMed ID: 15858240
    [Abstract] [Full Text] [Related]

  • 9. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
    Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P.
    J Clin Endocrinol Metab; 2001 Aug; 86(8):3962-7. PubMed ID: 11502839
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
    Bretones P, Duprez L, Parma J, David M, Vassart G, Rodien P.
    Thyroid; 2001 Oct; 11(10):977-80. PubMed ID: 11716047
    [Abstract] [Full Text] [Related]

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

  • 13. Molecular genetic defects in congenital hypothyroidism.
    Grüters A, Krude H, Biebermann H.
    Eur J Endocrinol; 2004 Nov; 151 Suppl 3():U39-44. PubMed ID: 15554885
    [Abstract] [Full Text] [Related]

  • 14. [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 Nov; 65(3):257-67. PubMed ID: 16042141
    [Abstract] [Full Text] [Related]

  • 15. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study.
    Gaudino R, Garel C, Czernichow P, Léger J.
    Clin Endocrinol (Oxf); 2005 Apr; 62(4):444-8. PubMed ID: 15807875
    [Abstract] [Full Text] [Related]

  • 16. [Molecular endocrinology of thyroid diseases].
    Meier CA.
    Schweiz Med Wochenschr; 1995 Dec 09; 125(49):2367-78. PubMed ID: 8848697
    [Abstract] [Full Text] [Related]

  • 17. 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 09; 25(3):292-9. PubMed ID: 25557138
    [Abstract] [Full Text] [Related]

  • 18. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
    Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y.
    J Clin Endocrinol Metab; 2008 Nov 09; 93(11):4261-7. PubMed ID: 18765513
    [Abstract] [Full Text] [Related]

  • 19. [Genetic aspects in congenital hypothyrodism].
    Perone D, Teixeira SS, Clara SA, Santos DC, Nogueira CR.
    Arq Bras Endocrinol Metabol; 2004 Feb 09; 48(1):62-9. PubMed ID: 15611819
    [Abstract] [Full Text] [Related]

  • 20. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?
    Gagné N, Parma J, Deal C, Vassart G, Van Vliet G.
    J Clin Endocrinol Metab; 1998 May 09; 83(5):1771-5. PubMed ID: 9589691
    [Abstract] [Full Text] [Related]

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