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Items: 1 to 20 of 81

1.

Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, Murata Y, Ohyama Y, Matsuura N, Kasai K, Harada S, Kitanaka S, Takamatsu J, Kiwaki K, Ohye H, Uruno T, Tomoda C, Tajima T, Kuma K, Miyauchi A, Ieiri T.

J Clin Endocrinol Metab. 2006 Aug;91(8):3100-4. Epub 2006 May 23.

PMID:
16720658
2.

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.

3.

[Thyroglobulin gene abnormalities].

Hishinuma A.

Rinsho Byori. 2005 Oct;53(10):935-41. Review. Japanese.

PMID:
16296342
4.

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
5.

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
6.

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
7.

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
8.

Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

Brumm H, Pfeufer A, Biebermann H, Schnabel D, Deiss D, Grüters A.

J Clin Endocrinol Metab. 2002 Oct;87(10):4811-6.

PMID:
12364478
9.

Thyroglobulin gene mutations in congenital hypothyroidism.

Targovnik HM, Citterio CE, Rivolta CM.

Horm Res Paediatr. 2011;75(5):311-21. doi: 10.1159/000324882. Epub 2011 Mar 3. Review.

10.

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
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.

PMID:
9588493
12.

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
13.

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM, Esperante SA, Rivolta CM.

Mol Cell Endocrinol. 2010 Jun 30;322(1-2):44-55. doi: 10.1016/j.mce.2010.01.009. Epub 2010 Jan 20. Review.

PMID:
20093166
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.

PMID:
12915634
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.

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. doi: 10.1210/jc.2009-1823. Epub 2010 Jan 20.

PMID:
20089614
17.

Molecular advances in thyroglobulin disorders.

Rivolta CM, Targovnik HM.

Clin Chim Acta. 2006 Dec;374(1-2):8-24. Epub 2006 Jun 7. Review.

PMID:
16870170
18.

The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.

Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G.

J Clin Endocrinol Metab. 2009 Aug;94(8):2938-44. doi: 10.1210/jc.2009-0150. Epub 2009 Jun 9.

PMID:
19509106
19.

A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

Kitanaka S, Takeda A, Sato U, Miki Y, Hishinuma A, Ieiri T, Igarashi T.

J Hum Genet. 2006;51(4):379-82. Epub 2006 Feb 14.

PMID:
16477365
20.

Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T.

J Clin Endocrinol Metab. 1999 Apr;84(4):1438-44.

PMID:
10199792

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