(Q39993879)

16 September 2017

title

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

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Allan-Herndon-Dudley syndrome

16 September 2017

main subject

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19

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5

Hilde Van Esch

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Martine Raynaud

object named as

Martine Raynaud

21

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Vincent des Portes

6

object named as

Vincent des Portes

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16 September 2017

13

Jean-Pierre Fryns

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15

Hans van Bokhoven

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16 September 2017

author name string

Suzanna Gerarda Maria Frints

1

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16 September 2017

Steffen Lenzner

2

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16 September 2017

Mareike Bauters

3

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16 September 2017

Lars Riff Jensen

4

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16 September 2017

Hilde Van Esch

5

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16 September 2017

Ute Moog

7

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16 September 2017

Merryn Victor Erik Macville

8

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16 September 2017

Kees van Roozendaal

9

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16 September 2017

Constance Theresia Rimbertha Maria Schrander-Stumpel

10

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Andreas Tzschach

11

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Peter Marynen

12

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Ben Hamel

14

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Jamel Chelly

16

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Chérif Beldjord

17

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Gillian Turner

18

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16 September 2017

Claude Moraine

20

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Hans Hilger Ropers

22

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Guy Froyen

23

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Andreas Walter Kuss

24

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16 September 2017

publication date

9 April 2008

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European Journal of Human Genetics

16 September 2017

published in

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16 September 2017

volume

16

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16 September 2017

issue

9

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16 September 2017

page(s)

1029-1037

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.66

16 September 2017

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Clinical application of FISH for sex determination of embryos in preimplantation diagnosis of X-linked diseases.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Prediction of deleterious human alleles

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

A novel transmembrane transporter encoded by the XPCT gene in Xq13.2

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.66

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.66

1 reference

16 September 2017

1 reference