BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 12930599)

  • 21. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.
    Bonomi M; Proverbio MC; Weber G; Chiumello G; Beck-Peccoz P; Persani L
    J Clin Endocrinol Metab; 2001 Apr; 86(4):1600-4. PubMed ID: 11297590
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Gene symbol: TSH B. Disease: congenital hypothyroidism.
    Sertedaki A; Papadimitriou A; Voutetakis A; Dracopoulou A; Maniati-Christidi M; Dacou-Voutetakis C
    Hum Genet; 2004 Jul; 115(2):174. PubMed ID: 15300985
    [No Abstract]   [Full Text] [Related]  

  • 24. Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
    Richter-Unruh A; Hauffa BP; Pfarr N; Pohlenz J
    Thyroid; 2004 Nov; 14(11):971-4. PubMed ID: 15671778
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
    Pappa T; Johannesen J; Scherberg N; Torrent M; Dumitrescu A; Refetoff S
    Thyroid; 2015 Aug; 25(8):869-76. PubMed ID: 25950606
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.
    Biebermann H; Liesenkötter KP; Emeis M; Oblanden M; Grüters A
    Pediatr Res; 1999 Aug; 46(2):170-3. PubMed ID: 10447110
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.
    Medeiros-Neto G; Herodotou DT; Rajan S; Kommareddi S; de Lacerda L; Sandrini R; Boguszewski MC; Hollenberg AN; Radovick S; Wondisford FE
    J Clin Invest; 1996 Mar; 97(5):1250-6. PubMed ID: 8636437
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Thyroid-stimulating hormone, prolactin, and growth hormone response to thyrotropin-releasing hormone in treated children with congenital hypothyroidism.
    Sack J; Shafrir Y; Urbach D; Amado O
    Pediatr Res; 1985 Oct; 19(10):1037-9. PubMed ID: 3932951
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
    Nicholas AK; Jaleel S; Lyons G; Schoenmakers E; Dattani MT; Crowne E; Bernhard B; Kirk J; Roche EF; Chatterjee VK; Schoenmakers N
    Clin Endocrinol (Oxf); 2017 Mar; 86(3):410-418. PubMed ID: 27362444
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey.
    Hermanns P; Couch R; Leonard N; Klotz C; Pohlenz J
    Horm Res Paediatr; 2014; 82(3):201-5. PubMed ID: 25012771
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
    Caputo M; Rivolta CM; Gutnisky VJ; Gruñeiro-Papendieck L; Chiesa A; Medeiros-Neto G; González-Sarmiento R; Targovnik HM
    J Endocrinol; 2007 Oct; 195(1):167-77. PubMed ID: 17911408
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
    Dacou-Voutetakis C; Feltquate DM; Drakopoulou M; Kourides IA; Dracopoli NC
    Am J Hum Genet; 1990 May; 46(5):988-93. PubMed ID: 1971148
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness.
    Takeshita A; Nagayama Y; Yamashita S; Takamatsu J; Ohsawa N; Maesaka H; Tachibana K; Tokuhiro E; Ashizawa K; Yokoyama N
    Thyroid; 1994; 4(3):255-9. PubMed ID: 7833660
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of TSH receptor mutations in three families with resistance to TSH.
    Tonacchera M; Di Cosmo C; De Marco G; Agretti P; Banco M; Perri A; Gianetti E; Montanelli L; Vitti P; Pinchera A
    Clin Endocrinol (Oxf); 2007 Nov; 67(5):712-8. PubMed ID: 17697008
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.
    Özhan B; Boz Anlaş Ö; Sarıkepe B; Albuz B; Semerci Gündüz N
    J Clin Res Pediatr Endocrinol; 2017 Sep; 9(3):278-282. PubMed ID: 28515030
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
    Cangul H; Morgan NV; Forman JR; Saglam H; Aycan Z; Yakut T; Gulten T; Tarim O; Bober E; Cesur Y; Kirby GA; Pasha S; Karkucak M; Eren E; Cetinkaya S; Bas V; Demir K; Yuca SA; Meyer E; Kendall M; Hogler W; Barrett TG; Maher ER
    Clin Endocrinol (Oxf); 2010 Nov; 73(5):671-7. PubMed ID: 20718767
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.