132 related articles for article (PubMed ID: 7549998)
1. Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis.
Targovnik HM; Varela V; Frechtel GD; Cerrone GE; Copelli SB; Propato FV; Mendive F
Braz J Med Biol Res; 1994 Dec; 27(12):2745-57. PubMed ID: 7549998
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
Gutnisky VJ; Moya CM; Rivolta CM; Domené S; Varela V; Toniolo JV; Medeiros-Neto G; Targovnik HM
J Clin Endocrinol Metab; 2004 Feb; 89(2):646-57. PubMed ID: 14764776
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. [Thyroglobulin (Tg) gene and familial Tg synthesis defect].
Ieiri T
Nihon Rinsho; 1994 Apr; 52(4):869-74. PubMed ID: 8196172
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
Ieiri T; Cochaux P; Targovnik HM; Suzuki M; Shimoda S; Perret J; Vassart G
J Clin Invest; 1991 Dec; 88(6):1901-5. PubMed ID: 1752952
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.
Ricketts MH; Simons MJ; Parma J; Mercken L; Dong Q; Vassart G
Proc Natl Acad Sci U S A; 1987 May; 84(10):3181-4. PubMed ID: 3472203
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.
Caron P; Moya CM; Malet D; Gutnisky VJ; Chabardes B; Rivolta CM; Targovnik HM
J Clin Endocrinol Metab; 2003 Aug; 88(8):3546-53. PubMed ID: 12915634
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.
Alzahrani AS; Baitei EY; Zou M; Shi Y
J Clin Endocrinol Metab; 2006 Mar; 91(3):740-6. PubMed ID: 16403815
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.
Sato A; Abe K; Yuzuriha M; Fujii S; Takahashi N; Hojo H; Teramoto S; Aoyama H
Mutat Res; 2014 Apr; 762():17-23. PubMed ID: 24582622
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]