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Items: 1 to 20 of 98

1.

Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.

Citterio CE, Rossetti LC, Souchon PF, Morales C, Thouvard-Viprey M, Salmon-Musial AS, Mauran PL, Doco-Fenzy M, González-Sarmiento R, Rivolta CM, De Brasi CD, Targovnik HM.

Mol Cell Endocrinol. 2013 Dec 5;381(1-2):220-9. doi: 10.1016/j.mce.2013.07.034. Epub 2013 Aug 7.

PMID:
23933148
2.

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 15;404:102-12. doi: 10.1016/j.mce.2015.01.032. Epub 2015 Jan 26.

PMID:
25633667
3.

Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.

Liu S, Zhang S, Li W, Zhang A, Qi F, Zheng G, Yan S, Ma X.

Twin Res Hum Genet. 2012 Feb;15(1):126-32. doi: 10.1375/twin.15.1.126.

PMID:
22784463
4.

Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene.

Agretti P, De Marco G, Di Cosmo C, Ferrarini E, Montanelli L, Bagattini B, Vitti P, Tonacchera M.

Eur J Pediatr. 2013 Jul;172(7):959-64. doi: 10.1007/s00431-013-1976-9. Epub 2013 Mar 3.

PMID:
23455760
5.

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. doi: 10.1111/j.1365-2265.2009.03621.x. Epub 2009 May 2.

PMID:
19438905
6.

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.

7.

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.

PMID:
14764776
8.

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

Citterio CE, Machiavelli GA, Miras MB, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte FS, González-Sarmiento R, Rivolta CM, Targovnik HM.

Mol Cell Endocrinol. 2013 Jan 30;365(2):277-91. doi: 10.1016/j.mce.2012.11.002. Epub 2012 Nov 16.

PMID:
23164529
9.

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.

PMID:
11484898
10.

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. Epub 2005 Mar 15.

PMID:
15769978
11.

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.

Targovnik HM, Edouard T, Varela V, Tauber M, Citterio CE, González-Sarmiento R, Rivolta CM.

Mol Cell Endocrinol. 2012 Jan 2;348(1):313-21. doi: 10.1016/j.mce.2011.09.024. Epub 2011 Sep 21.

PMID:
21958696
12.

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. Epub 2007 May 28.

PMID:
17532758
13.

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.

PMID:
12915634
14.

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.

PMID:
9588493
15.

New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.

Peteiro-Gonzalez D, Lee J, Rodriguez-Fontan J, Castro-Piedras I, Cameselle-Teijeiro J, Beiras A, Bravo SB, Alvarez CV, Hardy DM, Targovnik HM, Arvan P, Lado-Abeal J.

J Clin Endocrinol Metab. 2010 Jul;95(7):3522-6. doi: 10.1210/jc.2009-2109. Epub 2010 Apr 21.

16.

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.

Medeiros-Neto G, Targovnik HM, Vassart G.

Endocr Rev. 1993 Apr;14(2):165-83. Review. Erratum in: Endocr Rev 1994 Aug;15(4):438.

PMID:
8325250
17.

[Thyroglobulin (Tg) gene and familial Tg synthesis defect].

Ieiri T.

Nihon Rinsho. 1994 Apr;52(4):869-74. Review. Japanese.

PMID:
8196172
18.

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.

PMID:
8325944
19.

Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.

Targovnik HM, Souchon PF, Machiavelli GA, Salmon-Musial AS, Mauran PL, Sulmont V, Doco-Fenzy M, Rivolta CM.

Clin Endocrinol (Oxf). 2010 May;72(5):716-8. doi: 10.1111/j.1365-2265.2009.03702.x. No abstract available.

PMID:
20447071
20.

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.

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