(Q43874814)

27 November 2017

title

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities (English)

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27 November 2017

author name string

Hamilton Cabral de Menezes Filho

1

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27 November 2017

Suemi Marui

2

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27 November 2017

Thais Della Manna

3

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27 November 2017

Ester Saraiva Brust

4

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27 November 2017

Vanessa Radonsky

5

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27 November 2017

Hilton Kuperman

6

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27 November 2017

Vaê Dichtchekenian

7

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27 November 2017

Nuvarte Setian

8

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27 November 2017

Durval Damiani

9

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27 November 2017

publication date

1 February 2011

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Arquivos Brasileiros de Endocrinologia e Metabologia

27 November 2017

published in

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27 November 2017

volume

55

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27 November 2017

issue

1

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27 November 2017

page(s)

60-66

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Iodothyronine deiodinase enzyme activities in bone.

27 November 2017

cites work

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https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Genetics and phenomics of thyroid hormone transport by MCT8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

The nature of the compensatory response to low thyroid hormone in the developing brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302011000100008

10.1590/S0004-27302011000100008

21 January 2018

Identifiers

DOI

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27 November 2017

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