BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 23292166)

  • 1. A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.
    Yi RH; Zhu WB; Yang LY; Lan L; Chen Y; Zhou JF; Wang J; Su YQ
    Int J Mol Med; 2013 Feb; 31(2):467-70. PubMed ID: 23292166
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.
    Liu S; Liu L; Niu X; Lu D; Xia H; Yan S
    J Clin Endocrinol Metab; 2015 Apr; 100(4):1225-9. PubMed ID: 25675383
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
    Zheng X; Ma SG; Guo ML; Qiu YL; Yang LX
    Yonsei Med J; 2017 Jul; 58(4):888-890. PubMed ID: 28541007
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel genetic variants in the TPO gene cause congenital hypothyroidism.
    Ma SG; Qiu YL; Zhu H; Liu H; Li Q; Ji CM
    Scand J Clin Lab Invest; 2015; 75(8):633-7. PubMed ID: 26174974
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
    Zamproni I; Grasberger H; Cortinovis F; Vigone MC; Chiumello G; Mora S; Onigata K; Fugazzola L; Refetoff S; Persani L; Weber G
    J Clin Endocrinol Metab; 2008 Feb; 93(2):605-10. PubMed ID: 18042646
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.
    Zheng X; Ma SG; Qiu YL; Guo ML; Shao XJ
    J Clin Res Pediatr Endocrinol; 2016 Jun; 8(2):224-7. PubMed ID: 26758695
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.
    Yang LX; Ma SG; Qiu YL; Zheng X
    Clin Lab; 2016; 62(5):849-54. PubMed ID: 27349010
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism].
    Tan MY; Huang YL; Li B; Jiang X; Chen QY; Jia XF; Tang CF; Liu L
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Jan; 19(1):59-63. PubMed ID: 28100324
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
    Rivolta CM; Louis-Tisserand M; Varela V; Gruñeiro-Papendieck L; Chiesa A; González-Sarmiento R; Targovnik HM
    Clin Endocrinol (Oxf); 2007 Aug; 67(2):238-46. PubMed ID: 17547680
    [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. Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.
    Hoste C; Rigutto S; Van Vliet G; Miot F; De Deken X
    Hum Mutat; 2010 Apr; 31(4):E1304-19. PubMed ID: 20187165
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations.
    Tanase-Nakao K; Miyata I; Terauchi A; Saito M; Wada S; Hasegawa T; Narumi S
    Horm Res Paediatr; 2018; 90(2):132-137. PubMed ID: 30110704
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.
    Ma SG; Zheng X; Qiu YL; Guo ML; Shao XJ
    J Pediatr Endocrinol Metab; 2016 May; 29(5):567-70. PubMed ID: 27135621
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
    Hulur I; Hermanns P; Nestoris C; Heger S; Refetoff S; Pohlenz J; Grasberger H
    J Clin Endocrinol Metab; 2011 May; 96(5):E841-5. PubMed ID: 21367925
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.
    De Marco G; Agretti P; Montanelli L; Di Cosmo C; Bagattini B; De Servi M; Ferrarini E; Dimida A; Freitas Ferreira AC; Molinaro A; Ceccarelli C; Brozzi F; Pinchera A; Vitti P; Tonacchera M
    J Clin Endocrinol Metab; 2011 Aug; 96(8):E1335-9. PubMed ID: 21565790
    [TBL] [Abstract][Full Text] [Related]  

  • 16.
    Peters C; Nicholas AK; Schoenmakers E; Lyons G; Langham S; Serra EG; Sebire NJ; Muzza M; Fugazzola L; Schoenmakers N
    Thyroid; 2019 Jun; 29(6):790-801. PubMed ID: 31044655
    [No Abstract]   [Full Text] [Related]  

  • 17.
    Wang F; Zang Y; Li M; Liu W; Wang Y; Yu X; Li H; Wang F; Liu S
    Front Endocrinol (Lausanne); 2020; 11():237. PubMed ID: 32425884
    [No Abstract]   [Full Text] [Related]  

  • 18. [Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis].
    Huang YL; Tan MY; Jiang X; Li B; Chen QY; Jia XF; Tang CF; Liu JL; Liu L
    Zhonghua Er Ke Za Zhi; 2017 Mar; 55(3):210-214. PubMed ID: 28273705
    [No Abstract]   [Full Text] [Related]  

  • 19. Homozygous DUOXA2 mutation (p.Tyr138
    Sugisawa C; Higuchi S; Takagi M; Hasegawa Y; Taniyama M; Abe K; Hasegawa T; Narumi S
    Endocr J; 2017 Aug; 64(8):807-812. PubMed ID: 28626131
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
    Li HF; Liu YX; Xie JS; Chen B; Li SL
    Zhonghua Er Ke Za Zhi; 2011 Aug; 49(8):626-30. PubMed ID: 22093430
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.