234 related articles for article (PubMed ID: 28541007)
1. 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]
2. 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]
3. 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]
4. 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]
5. [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]
6. 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]
7. 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]
8.
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]
9. 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]
10. 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]
11. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F; Zhang JX; Yang CY; Gao GQ; Zhu WB; Han B; Zhang LL; Wan YY; Ye XP; Ma YR; Zhang MM; Yang L; Zhang QY; Liu W; Guo CC; Chen G; Zhao SX; Song KY; Song HD
Eur J Endocrinol; 2018 Jun; 178(6):623-633. PubMed ID: 29650690
[TBL] [Abstract][Full Text] [Related]
12. [Genetic analysis for 5 congenital hypothyroidism patients due to dyshormonogenesis].
Fu CY; Zhang SJ; Luo SY; Wang J; Yang Q; Xie BB; Chen SK
Zhonghua Er Ke Za Zhi; 2016 Jun; 54(6):433-6. PubMed ID: 27256230
[TBL] [Abstract][Full Text] [Related]
13. Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.
Yoshizawa-Ogasawara A; Abe K; Ogikubo S; Narumi S; Hasegawa T; Satoh M
J Pediatr Endocrinol Metab; 2016 Mar; 29(3):363-71. PubMed ID: 26565538
[TBL] [Abstract][Full Text] [Related]
14.
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]
15. DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
Park KJ; Park HK; Kim YJ; Lee KR; Park JH; Park JH; Park HD; Lee SY; Kim JW
Ann Lab Med; 2016 Mar; 36(2):145-53. PubMed ID: 26709262
[TBL] [Abstract][Full Text] [Related]
16. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
Maruo Y; Takahashi H; Soeda I; Nishikura N; Matsui K; Ota Y; Mimura Y; Mori A; Sato H; Takeuchi Y
J Clin Endocrinol Metab; 2008 Nov; 93(11):4261-7. PubMed ID: 18765513
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.
Varela V; Rivolta CM; Esperante SA; Gruñeiro-Papendieck L; Chiesa A; Targovnik HM
Clin Chem; 2006 Feb; 52(2):182-91. PubMed ID: 16322276
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
Moreno JC; Visser TJ
Endocr Dev; 2007; 10():99-117. PubMed ID: 17684392
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
