129 related articles for article (PubMed ID: 14671405)
1. Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression.
Moreno JC
Horm Res; 2003; 60 Suppl 3():96-102. PubMed ID: 14671405
[TBL] [Abstract][Full Text] [Related]
2. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
Moreno JC; Bikker H; Kempers MJ; van Trotsenburg AS; Baas F; de Vijlder JJ; Vulsma T; Ris-Stalpers C
N Engl J Med; 2002 Jul; 347(2):95-102. PubMed ID: 12110737
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Neonatal thyroid disorders.
Grüters A; Biebermann H; Krude H
Horm Res; 2003; 59 Suppl 1():24-9. PubMed ID: 12566717
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Serial analysis of gene expression as a tool to assess the human thyroid expression profile and to identify novel thyroidal genes.
Pauws E; Moreno JC; Tijssen M; Baas F; de Vijlder JJ; Ris-Stalpers C
J Clin Endocrinol Metab; 2000 May; 85(5):1923-7. PubMed ID: 10843176
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Perspective: genetic defects in the etiology of congenital hypothyroidism.
Kopp P
Endocrinology; 2002 Jun; 143(6):2019-24. PubMed ID: 12021164
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study.
Gaudino R; Garel C; Czernichow P; Léger J
Clin Endocrinol (Oxf); 2005 Apr; 62(4):444-8. PubMed ID: 15807875
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
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. Recent advances in understanding the molecular basis of primary congenital hypothyroidism.
Macchia PE
Mol Med Today; 2000 Jan; 6(1):36-42. PubMed ID: 10637573
[TBL] [Abstract][Full Text] [Related]
17. Epidemiology of congenital hypothyroidism.
Klett M
Exp Clin Endocrinol Diabetes; 1997; 105 Suppl 4():19-23. PubMed ID: 9439909
[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. Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.
Tonacchera M; Banco ME; Montanelli L; Di Cosmo C; Agretti P; De Marco G; Ferrarini E; Ordookhani A; Perri A; Chiovato L; Santini F; Vitti P; Pinchera A
Clin Endocrinol (Oxf); 2007 Jul; 67(1):34-40. PubMed ID: 17437516
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
