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3. A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. Targovnik HM; Vono J; Billerbeck AE; Cerrone GE; Varela V; Mendive F; Wajchenberg BL; Medeiros-Neto G J Clin Endocrinol Metab; 1995 Nov; 80(11):3356-60. PubMed ID: 7593451 [TBL] [Abstract][Full Text] [Related]
4. Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis. Targovnik HM; Varela V; Abatangelo C; Wajchenberg BL; Medeiros-Neto G Thyroid; 1991; 1(4):339-45. PubMed ID: 1726786 [TBL] [Abstract][Full Text] [Related]
5. Qualitative and quantitative defects of thyroglobulin resulting in congenital goiter. Absence of gross gene deletion of coding sequences in the TG gene structure. Medeiros-Neto G; Targovnik H; Knobel M; Propato F; Varela V; Alkmin M; Barbosa S; Wajchenberg BL J Endocrinol Invest; 1989 Dec; 12(11):805-13. PubMed ID: 2614017 [TBL] [Abstract][Full Text] [Related]
6. The effect of oral administration of iodine to patients with goiter and hypothyroidism due to defective synthesis of thyroglobulin. Vono J; Lima N; Knobel M; Medeiros-Neto G Thyroid; 1996 Feb; 6(1):11-5. PubMed ID: 8777378 [TBL] [Abstract][Full Text] [Related]
7. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Medeiros-Neto G; Targovnik HM; Vassart G Endocr Rev; 1993 Apr; 14(2):165-83. PubMed ID: 8325250 [TBL] [Abstract][Full Text] [Related]
8. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. Targovnik HM; Medeiros-Neto G; Varela V; Cochaux P; Wajchenberg BL; Vassart G J Clin Endocrinol Metab; 1993 Jul; 77(1):210-5. PubMed ID: 8325944 [TBL] [Abstract][Full Text] [Related]
9. Normal level of thyroglobulin messenger ribonucleic acid in a human congenital goiter with thyroglobulin deficiency. Cabrer B; Brocas H; Perez-Castillo A; Pohl V; Navas JJ; Targovnik H; Centenera JA; Vassart G J Clin Endocrinol Metab; 1986 Oct; 63(4):931-40. PubMed ID: 3745406 [TBL] [Abstract][Full Text] [Related]
11. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Targovnik HM; Frechtel GD; Mendive FM; Vono J; Cochaux P; Vassart G; Medeiros-Neto G Thyroid; 1998 Apr; 8(4):291-7. PubMed ID: 9588493 [TBL] [Abstract][Full Text] [Related]
12. Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. Raef H; Al-Rijjal R; Al-Shehri S; Zou M; Al-Mana H; Baitei EY; Parhar RS; Al-Mohanna FA; Shi Y J Clin Endocrinol Metab; 2010 Mar; 95(3):1000-6. PubMed ID: 20089614 [TBL] [Abstract][Full Text] [Related]
13. A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. van de Graaf SA; Ris-Stalpers C; Veenboer GJ; Cammenga M; Santos C; Targovnik HM; de Vijlder JJ; Medeiros-Neto G J Clin Endocrinol Metab; 1999 Jul; 84(7):2537-42. PubMed ID: 10404833 [TBL] [Abstract][Full Text] [Related]
14. Nonfunctional thyroglobulin messenger RNA in goats with hereditary congenital goiter. de Vijlder JJ; van Ommen GJ; van Voorthuizen WF; Koch CA; Arnberg AC; Vassart G; Dinsart C; Flavell RA J Mol Appl Genet; 1981; 1(1):51-9. PubMed ID: 6125553 [TBL] [Abstract][Full Text] [Related]
15. Molecular basis of the thyroglobulin synthesis defect in Dutch goats. Veenboer GJ; de Vijlder JJ Endocrinology; 1993 Jan; 132(1):377-81. PubMed ID: 8380383 [TBL] [Abstract][Full Text] [Related]
16. Congenital goitre and hypothyroidism with impaired iodide organification and high thyroid peroxidase concentration. Medeiros-Neto GA; Nakashima T; Taurog A; Knobel M; Simonetti JP; Mattar E Clin Endocrinol (Oxf); 1979; 11(2):123-39. PubMed ID: 487612 [TBL] [Abstract][Full Text] [Related]
17. Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene. Targovnik HM; Rivolta CM; Mendive FM; Moya CM; Vono J; Medeiros-Neto G Thyroid; 2001 Jul; 11(7):685-90. PubMed ID: 11484898 [TBL] [Abstract][Full Text] [Related]
18. [Identification of a 3' splice site mutation in the thyroglobulin gene in a case of congenital familial goiter]. Ieiri T; Kuroda H; Emoto T; Masawa N; Hasegawa K; Shimoda S Nihon Naibunpi Gakkai Zasshi; 1992 Aug; 68(8):752-64. PubMed ID: 1397384 [TBL] [Abstract][Full Text] [Related]
19. Familial and sporadic thyroglobulin deficiency with goitre and hypothyroidism. Wägar G; Lamberg BA; Sivula A; Saarinen P; Mäkinen T Ann Clin Res; 1982 Feb; 14(1):37-45. PubMed ID: 7137876 [TBL] [Abstract][Full Text] [Related]
20. Hyposialylated thyroglobulin in a patient with congenital goiter and hypothyroidism. Grollman EF; Doi SQ; Weiss P; Ashwell G; Wajchenberg BL; Medeiros-Neto G J Clin Endocrinol Metab; 1992 Jan; 74(1):43-8. PubMed ID: 1727828 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]