Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. (Q47769492)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23949896%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23949896%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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Hakan Cangul

1

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7 March 2020

Kristien Boelaert

2

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7 March 2020

Murat Dogan

3

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7 March 2020

Yaman Saglam

4

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7 March 2020

Michaela Kendall

5

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7 March 2020

publication date

15 August 2013

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7 March 2020

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7 March 2020

volume

45

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7 March 2020

page(s)

206-212

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7 March 2020

issue

2

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https://scigraph.springernature.com/pub.10.1007/s12020-013-0027-7

7 March 2020

exact match

0 references

cites work

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

Genomic organization of the human thyroglobulin gene: the complete intron-exon structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

Thyroglobulin gene point mutation associated with non-endemic simple goitre.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-013-0027-7

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism

1 reference

12 December 2020

A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism

1 reference

12 December 2020

Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter

1 reference

12 December 2020

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger

1 reference

12 December 2020

Consensus sequences for early iodination and hormonogenesis in human thyroglobulin.

1 reference

12 December 2020

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S12020-013-0027-7

Identifiers

DOI

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7 March 2020

Fatcat ID

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Fatcat

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24 November 2022

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