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5. 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]
6. A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant. Stern E; Schoenmakers N; Nicholas AK; Kassif E; Hamiel OP; Yeshayahu Y J Clin Res Pediatr Endocrinol; 2022 Jun; 14(2):221-226. PubMed ID: 33832185 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
10. 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]
12. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Targovnik HM; Esperante SA; Rivolta CM Mol Cell Endocrinol; 2010 Jun; 322(1-2):44-55. PubMed ID: 20093166 [TBL] [Abstract][Full Text] [Related]
13. First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations. Stoupa A; Al Hage Chehade G; Kariyawasam D; Tohier C; Bole-Feysot C; Nitschke P; Thibault H; Jullie ML; Polak M; Carré A Eur J Endocrinol; 2020 Nov; 183(5):K1-K5. PubMed ID: 32805706 [TBL] [Abstract][Full Text] [Related]
14. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. Watanabe Y; Ebrhim RS; Abdullah MA; Weiss RE Thyroid; 2018 Aug; 28(8):1068-1070. PubMed ID: 29759035 [TBL] [Abstract][Full Text] [Related]
15. Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. Afink G; Kulik W; Overmars H; de Randamie J; Veenboer T; van Cruchten A; Craen M; Ris-Stalpers C J Clin Endocrinol Metab; 2008 Dec; 93(12):4894-901. PubMed ID: 18765512 [TBL] [Abstract][Full Text] [Related]
16. 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]
18. 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]
19. Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members. Montanelli L; Agretti P; Marco Gd; Bagattini B; Ceccarelli C; Brozzi F; Lettiero T; Cerbone M; Vitti P; Salerno M; Pinchera A; Tonacchera M Thyroid; 2009 Dec; 19(12):1419-25. PubMed ID: 19916865 [TBL] [Abstract][Full Text] [Related]
20. A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation. Rivolta CM; Moya CM; Gutnisky VJ; Varela V; Miralles-García JM; González-Sarmiento R; Targovnik HM J Clin Endocrinol Metab; 2005 Jun; 90(6):3766-70. PubMed ID: 15769978 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]