(Q36661191)

15 August 2017

1 reference

title

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene (English)

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congenital hypothyroidism

15 August 2017

0 references

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Nicole Pfarr

1

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15 August 2017

Eckhard Korsch

2

1 reference

15 August 2017

Stefan Kaspers

3

1 reference

15 August 2017

Antje Herbst

4

1 reference

15 August 2017

Armin Stach

5

1 reference

15 August 2017

Claudia Zimmer

6

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15 August 2017

Joachim Pohlenz

7

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15 August 2017

publication date

1 December 2006

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15 August 2017

published in

Clinical Endocrinology

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15 August 2017

volume

65

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15 August 2017

issue

6

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15 August 2017

page(s)

810-815

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Thyroid Development and Its Disorders: Genetics and Molecular Mechanisms

15 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Genetics of congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Pendred's syndrome and genetic defects in thyroid hormone synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Naturally occurring mutations in the thyroglobulin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02672.X

10.1111/J.1365-2265.2006.02672.X

21 January 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference