BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

409 related articles for article (PubMed ID: 14725684)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 83(5):1771-5. PubMed ID: 9589691
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Novel heterozygous thyrotropin receptor mutation presenting with neonatal hyperthyrotropinaemia, mild thyroid hypoplasia and absent uptake on radioisotope scan.
    Lucas-Herald A; Bradley T; Hermanns P; Jones J; Attaie M; Thompson E; Pohlenz J; Donaldson M
    J Pediatr Endocrinol Metab; 2013; 26(5-6):583-6. PubMed ID: 23412867
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
    Abramowicz MJ; Duprez L; Parma J; Vassart G; Heinrichs C
    J Clin Invest; 1997 Jun; 99(12):3018-24. PubMed ID: 9185526
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 104 Suppl 4():117-20. PubMed ID: 8981017
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism.
    McGrath N; Hawkes CP; Ryan S; Mayne P; Murphy N
    Horm Res Paediatr; 2021; 94(1-2):36-43. PubMed ID: 34044405
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia.
    Calaciura F; Motta RM; Miscio G; Fichera G; Leonardi D; Carta A; Trischitta V; Tassi V; Sava L; Vigneri R
    J Clin Endocrinol Metab; 2002 Jul; 87(7):3209-14. PubMed ID: 12107226
    [TBL] [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; 87(6):2549-55. PubMed ID: 12050212
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
    Vigone MC; Di Frenna M; Guizzardi F; Gelmini G; de Filippis T; Mora S; Caiulo S; Sonnino M; Bonomi M; Persani L; Weber G
    Clin Endocrinol (Oxf); 2017 Nov; 87(5):587-596. PubMed ID: 28561265
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.
    Jordan N; Williams N; Gregory JW; Evans C; Owen M; Ludgate M
    J Clin Endocrinol Metab; 2003 Mar; 88(3):1002-5. PubMed ID: 12629076
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism.
    Fisher DA; Schoen EJ; La Franchi S; Mandel SH; Nelson JC; Carlton EI; Goshi JH
    J Clin Endocrinol Metab; 2000 Aug; 85(8):2722-7. PubMed ID: 10946871
    [TBL] [Abstract][Full Text] [Related]  

  • 20. TSH resistance revisited.
    Narumi S; Hasegawa T
    Endocr J; 2015; 62(5):393-8. PubMed ID: 25797365
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.