Associated Papers
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
Ladsous M et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.
Niu DM et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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 et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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 et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Up to date with human thyroglobulin.
van de Graaf SA et al.
The Journal of Endocrinology, 2001
Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter.
González-Sarmiento R et al.
Thyroid : Official Journal of the American Thyroid Association, 2001
A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats.
Hishinuma A et al.
Endocrinology, 2000
Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter.
Pérez-Centeno C et al.
Thyroid : Official Journal of the American Thyroid Association, 1996
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