BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 21714469)

  • 1. The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
    Ma SG; Fang PH; Hong B; Yu WN
    J Pediatr Endocrinol Metab; 2010 Dec; 23(12):1339-44. PubMed ID: 21714469
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 94(4):1317-23. PubMed ID: 19158199
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].
    Yuan ZF; Luo YF; Wu YD; Shen Z; Zhao ZY
    Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):508-12. PubMed ID: 17953807
    [TBL] [Abstract][Full Text] [Related]  

  • 4. R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
    Chang WC; Liao CY; Chen WC; Fan YC; Chiu SJ; Kuo HC; Woon PY; Chao MC
    Clin Chim Acta; 2012 Jun; 413(11-12):1004-7. PubMed ID: 22405933
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
    Fu C; Wang J; Luo S; Yang Q; Li Q; Zheng H; Hu X; Su J; Zhang S; Chen R; Luo J; Zhang Y; Shen Y; Wei H; Meng D; Gui B; Zeng Z; Fan X; Chen S
    Clin Chim Acta; 2016 Nov; 462():127-132. PubMed ID: 27637299
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.
    Yuan ZF; Mao HQ; Luo YF; Wu YD; Shen Z; Zhao ZY
    Endocr J; 2008 May; 55(2):415-23. PubMed ID: 18379122
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Pathogenic
    Shreder EV; Vadina TA; Solodovnikova EN; Zakharova VV; Degtyarev MV; Konyukhova MB; Sergeeva NV; Bezlepkina OB
    Probl Endokrinol (Mosk); 2023 Feb; 69(1):76-85. PubMed ID: 36842079
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism.
    Alves EA; Cruz CM; Pimentel CP; Ribeiro RC; Santos AK; Caldato MC; Santana-da-silva LC
    J Pediatr Endocrinol Metab; 2010 Dec; 23(12):1321-8. PubMed ID: 21714466
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.
    Kanda K; Mizuno H; Sugiyama Y; Imamine H; Togari H; Onigata K
    Endocrine; 2006 Dec; 30(3):383-8. PubMed ID: 17526952
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
    Narumi S; Nagasaki K; Ishii T; Muroya K; Asakura Y; Adachi M; Hasegawa T
    J Clin Endocrinol Metab; 2011 Aug; 96(8):E1340-5. PubMed ID: 21677043
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.
    Da DZ; Wang Y; Wang M; Long Z; Wang Q; Liu J
    Inquiry; 2021; 58():469580211067943. PubMed ID: 34919466
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
    Cerqueira TL; Carré A; Chevrier L; Szinnai G; Tron E; Léger J; Cabrol S; Queinnec C; De Roux N; Castanet M; Polak M; Ramos HE
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):777-84. PubMed ID: 25153578
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
    Wang F; Liu C; Jia X; Liu X; Xu Y; Yan S; Jia X; Huang Z; Liu S; Gu M
    Clin Chim Acta; 2017 Jul; 470():36-41. PubMed ID: 28455095
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism.
    Cortinhas Alves EA; Andrade RC; de Melo Amaral CE; Fernandes Caldato MC; Rocha Bastos AM; da Silva LC
    J Pediatr Endocrinol Metab; 2016 Jan; 29(1):71-6. PubMed ID: 26356361
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene.
    Satoh M; Aso K; Ogikubo S; Yoshizawa-Ogasawara A; Saji T
    J Pediatr Endocrinol Metab; 2015 May; 28(5-6):657-61. PubMed ID: 25928756
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.