Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene-Reference-Cited by-同舟云学术

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

Published:2010-05 Issue:5 Volume:72 Page:716-718
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:

Author:

Targovnik Héctor M.,Souchon Pierre F.,Machiavelli Gloria A.,Salmon-Musial Anne S.,Mauran Pierre L.A.,Sulmont Véronique,Doco-Fenzy Martine,Rivolta Carina M.

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2009.03702.x/fullpdf

Reference5 articles.

1. Molecular advances in thyroglobulin disorders;Rivolta;Clinica Chimica Acta,2006

2. Two distinct compound heterozygous constellation (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;Journal of Clinical Endocrinology and Metabolism,2004

3. 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;Journal of Endocrinology,2007

4. The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation;Pardo;Journal of Clinical Endocrinology and Metabolism,2009

5. Molecular analysis of congenital goiters 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;Clinical Endocrinology,2009

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1. Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review;Maternal-Fetal Medicine;2023-05-18

2. Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms;Molecular and Cellular Endocrinology;2021-08

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4. A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis;Molecular and Cellular Endocrinology;2021-02

5. Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism;Molecular and Cellular Endocrinology;2018-09