BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

265 related articles for article (PubMed ID: 9486973)

  • 1. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
    Pohlenz J; Rosenthal IM; Weiss RE; Jhiang SM; Burant C; Refetoff S
    J Clin Invest; 1998 Mar; 101(5):1028-35. PubMed ID: 9486973
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
    Pohlenz J; Medeiros-Neto G; Gross JL; Silveiro SP; Knobel M; Refetoff S
    Biochem Biophys Res Commun; 1997 Nov; 240(2):488-91. PubMed ID: 9388506
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.
    Kosugi S; Bhayana S; Dean HJ
    J Clin Endocrinol Metab; 1999 Sep; 84(9):3248-53. PubMed ID: 10487695
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
    Kosugi S; Inoue S; Matsuda A; Jhiang SM
    J Clin Endocrinol Metab; 1998 Sep; 83(9):3373-6. PubMed ID: 9745458
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
    Tonacchera M; Agretti P; de Marco G; Elisei R; Perri A; Ambrogini E; De Servi M; Ceccarelli C; Viacava P; Refetoff S; Panunzi C; Bitti ML; Vitti P; Chiovato L; Pinchera A
    Clin Endocrinol (Oxf); 2003 Oct; 59(4):500-6. PubMed ID: 14510914
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members.
    Montanelli L; Agretti P; Marco Gd; Bagattini B; Ceccarelli C; Brozzi F; Lettiero T; Cerbone M; Vitti P; Salerno M; Pinchera A; Tonacchera M
    Thyroid; 2009 Dec; 19(12):1419-25. PubMed ID: 19916865
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
    Szinnai G; Kosugi S; Derrien C; Lucidarme N; David V; Czernichow P; Polak M
    J Clin Endocrinol Metab; 2006 Apr; 91(4):1199-204. PubMed ID: 16418213
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.
    Watanabe Y; Ebrhim RS; Abdullah MA; Weiss RE
    Thyroid; 2018 Aug; 28(8):1068-1070. PubMed ID: 29759035
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.
    Belforte FS; Citterio CE; Testa G; Olcese MC; Sobrero G; Miras MB; Targovnik HM; Rivolta CM
    Mol Cell Endocrinol; 2016 Jan; 419():172-84. PubMed ID: 26506010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
    Pfarr N; Korsch E; Kaspers S; Herbst A; Stach A; Zimmer C; Pohlenz J
    Clin Endocrinol (Oxf); 2006 Dec; 65(6):810-5. PubMed ID: 17121535
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
    Pohlenz J; Refetoff S
    Biochimie; 1999 May; 81(5):469-76. PubMed ID: 10403177
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
    Bernal Barquero CE; Martín M; Geysels RC; Peyret V; Papendieck P; Masini-Repiso AM; Chiesa AE; Nicola JP
    Thyroid; 2022 Jan; 32(1):19-27. PubMed ID: 34726525
    [No Abstract]   [Full Text] [Related]  

  • 13. A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
    Matsuda A; Kosugi S
    J Clin Endocrinol Metab; 1997 Dec; 82(12):3966-71. PubMed ID: 9398697
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 85(3):1001-8. PubMed ID: 10720030
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.
    Targovnik HM; Frechtel GD; Mendive FM; Vono J; Cochaux P; Vassart G; Medeiros-Neto G
    Thyroid; 1998 Apr; 8(4):291-7. PubMed ID: 9588493
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
    Martín M; Bernal Barquero CE; Geysels RC; Papendieck P; Peyret V; Masini-Repiso AM; Chiesa AE; Nicola JP
    Thyroid; 2019 Jul; 29(7):1023-1026. PubMed ID: 31115276
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
    Citterio CE; Morales CM; Bouhours-Nouet N; Machiavelli GA; Bueno E; Gatelais F; Coutant R; González-Sarmiento R; Rivolta CM; Targovnik HM
    Mol Cell Endocrinol; 2015 Mar; 404():102-12. PubMed ID: 25633667
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs.
    Soler Arias EA; Castillo VA; Garcia JD; Fyfe JC
    Domest Anim Endocrinol; 2018 Oct; 65():1-8. PubMed ID: 29777899
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene.
    Tatsumi K; Miyai K; Amino N
    Clin Chem Lab Med; 1998 Aug; 36(8):659-62. PubMed ID: 9806481
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.
    Fujiwara H; Tatsumi K; Miki K; Harada T; Okada S; Nose O; Kodama S; Amino N
    J Clin Endocrinol Metab; 1998 Aug; 83(8):2940-3. PubMed ID: 9709973
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.