285 related articles for article (PubMed ID: 21565790)
1. 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]
2. Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland.
Tonacchera M; De Marco G; Agretti P; Montanelli L; Di Cosmo C; Freitas Ferreira AC; Dimida A; Ferrarini E; Ramos HE; Ceccarelli C; Brozzi F; Pinchera A; Vitti P
J Clin Endocrinol Metab; 2009 Nov; 94(11):4309-14. PubMed ID: 19789206
[TBL] [Abstract][Full Text] [Related]
3. High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.
Jin HY; Heo SH; Kim YM; Kim GH; Choi JH; Lee BH; Yoo HW
Horm Res Paediatr; 2014; 82(4):252-60. PubMed ID: 25248169
[TBL] [Abstract][Full Text] [Related]
4. A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter.
Ohye H; Fukata S; Hishinuma A; Kudo T; Nishihara E; Ito M; Kubota S; Amino N; Ieiri T; Kuma K; Miyauchi A
Thyroid; 2008 May; 18(5):561-6. PubMed ID: 18426362
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
Matsuo K; Tanahashi Y; Mukai T; Suzuki S; Tajima T; Azuma H; Fujieda K
J Pediatr Endocrinol Metab; 2016 Jul; 29(7):807-12. PubMed ID: 27166716
[TBL] [Abstract][Full Text] [Related]
9. Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.
Wang F; Lu K; Yang Z; Zhang S; Lu W; Zhang L; Liu S; Yan S
Clin Endocrinol (Oxf); 2014 Sep; 81(3):452-7. PubMed ID: 24735383
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.
Fu C; Luo S; Zhang S; Wang J; Zheng H; Yang Q; Xie B; Hu X; Fan X; Luo J; Chen R; Su J; Shen Y; Gu X; Chen S
Clin Chim Acta; 2016 Jul; 458():30-4. PubMed ID: 27108200
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
Vigone MC; Fugazzola L; Zamproni I; Passoni A; Di Candia S; Chiumello G; Persani L; Weber G
Hum Mutat; 2005 Oct; 26(4):395. PubMed ID: 16134168
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.
Maruo Y; Nagasaki K; Matsui K; Mimura Y; Mori A; Fukami M; Takeuchi Y
Eur J Endocrinol; 2016 Apr; 174(4):453-63. PubMed ID: 26742565
[TBL] [Abstract][Full Text] [Related]
17. Genetic Evaluation of Congenital Hypothyroidism with Gland
Shin JH; Kim HY; Kim YM; Lee H; Bae MH; Park KH; Lee SM; Kwak MJ
Ann Clin Lab Sci; 2021 Jan; 51(1):73-81. PubMed ID: 33653783
[TBL] [Abstract][Full Text] [Related]
18. Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation.
Rabbiosi S; Vigone MC; Cortinovis F; Zamproni I; Fugazzola L; Persani L; Corbetta C; Chiumello G; Weber G
J Clin Endocrinol Metab; 2013 Apr; 98(4):1395-402. PubMed ID: 23426615
[TBL] [Abstract][Full Text] [Related]
19. High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
Jiang H; Wu J; Ke S; Hu Y; Fei A; Zhen Y; Yu J; Zhu K
Eur J Med Genet; 2016 Oct; 59(10):526-31. PubMed ID: 27498126
[TBL] [Abstract][Full Text] [Related]
20. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
Nascimento AC; Guedes DR; Santos CS; Knobel M; Rubio IG; Medeiros-Neto G
Thyroid; 2003 Dec; 13(12):1145-51. PubMed ID: 14751036
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]