227 related articles for article (PubMed ID: 20972728)
21. Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
Rodrigues TMB; Silva MMDC; Freitas MM; Duarte ZMC; Frutuoso VS; Rodrigues MT; Rubio IGS
Front Endocrinol (Lausanne); 2021; 12():671659. PubMed ID: 34220711
[TBL] [Abstract][Full Text] [Related]
22. [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]
23. 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]
24. Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Oliver-Petit I; Edouard T; Jacques V; Bournez M; Cartault A; Grunenwald S; Savagner F
Front Endocrinol (Lausanne); 2021; 12():657913. PubMed ID: 34248839
[TBL] [Abstract][Full Text] [Related]
25. Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
Machiavelli GA; Caputo M; Rivolta CM; Olcese MC; Gruñeiro-Papendieck L; Chiesa A; González-Sarmiento R; Targovnik HM
Clin Endocrinol (Oxf); 2010 Jan; 72(1):112-21. PubMed ID: 19438905
[TBL] [Abstract][Full Text] [Related]
26. Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
Tajima T; Tsubaki J; Fujieda K
Endocr J; 2005 Oct; 52(5):643-5. PubMed ID: 16284446
[TBL] [Abstract][Full Text] [Related]
27. Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
Caputo M; Rivolta CM; Esperante SA; Gruñeiro-Papendieck L; Chiesa A; Pellizas CG; González-Sarmiento R; Targovnik HM
Clin Endocrinol (Oxf); 2007 Sep; 67(3):351-7. PubMed ID: 17532758
[TBL] [Abstract][Full Text] [Related]
28. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
Caputo M; Rivolta CM; Gutnisky VJ; Gruñeiro-Papendieck L; Chiesa A; Medeiros-Neto G; González-Sarmiento R; Targovnik HM
J Endocrinol; 2007 Oct; 195(1):167-77. PubMed ID: 17911408
[TBL] [Abstract][Full Text] [Related]
29. Genetic defects of hydrogen peroxide generation in the thyroid gland.
Weber G; Rabbiosi S; Zamproni I; Fugazzola L
J Endocrinol Invest; 2013 Apr; 36(4):261-6. PubMed ID: 23404134
[TBL] [Abstract][Full Text] [Related]
30. Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
Targovnik H; Propato F; Varela V; Wajchenberg B; Knobel M; D'Abronzo HF; Medeiros-Neto G
J Clin Endocrinol Metab; 1989 Dec; 69(6):1137-47. PubMed ID: 2584351
[TBL] [Abstract][Full Text] [Related]
31. Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil.
Ramos JC; Lacerda Filho Ld; DeMartini Ade A; Silveira RB; Pereira RM; Sandrini Neto R; França SN
Arq Bras Endocrinol Metabol; 2012 Apr; 56(3):201-8. PubMed ID: 22666737
[TBL] [Abstract][Full Text] [Related]
32. Thyroid iodine organification defects: a case with lack of thyroglobulin iodination and a case without any peroxidase activity.
Pommier J; Tourniaire J; Rahmoun B; Déme D; Pallo D; Bornet H; Nunez J
J Clin Endocrinol Metab; 1976 Feb; 42(2):319-29. PubMed ID: 1262432
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Liu S; Wang X; Zou H; Ge Y; Wang F; Wang Y; Yan S; Xia H; Xing M
Oncotarget; 2017 Jan; 8(5):8707-8716. PubMed ID: 28060725
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis.
Targovnik HM; Varela V; Juvenal GJ; Propato F; Chester HA; Krawiec L; Frechtel G; Moran DH; Perinetti HA; Pisarev MA
J Endocrinol Invest; 1990 Nov; 13(10):797-806. PubMed ID: 2096156
[TBL] [Abstract][Full Text] [Related]
38. Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
Long W; Lu G; Zhou W; Yang Y; Zhang B; Zhou H; Jiang L; Yu B
Endocr J; 2018 Oct; 65(10):1019-1028. PubMed ID: 30022773
[TBL] [Abstract][Full Text] [Related]
39. Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
Citterio CE; Morales CM; Bouhours-Nouet N; Machiavelli GA; Bueno E; Gatelais F; Coutant R; González-Sarmiento R; Rivolta CM; Targovnik HM
Mol Cell Endocrinol; 2015 Mar; 404():102-12. PubMed ID: 25633667
[TBL] [Abstract][Full Text] [Related]
40. Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H; Refetoff S
Curr Opin Pediatr; 2011 Aug; 23(4):421-8. PubMed ID: 21543982
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
