(Q39916214)

15 September 2017

title

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation (English)

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15 September 2017

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Frédéric Laumonnier

11

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Jean-Marc Constans

object named as

Jean-Marc Constans

3

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Christian Andres

object named as

Christian R Andres

13

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Agnès Rötig

10

object named as

Agnès Rötig

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15 September 2017

12

Patrick Vourc'h

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15 September 2017

8

Sylviane Védrine

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15 September 2017

1

Hussein Daoud

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15 September 2017

6

Nadia Bayou

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15 September 2017

7

Maïté Amy

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15 September 2017

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Sylvain Briault

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15 September 2017

Nicolas Gruchy

2

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15 September 2017

Edgar Moussaoui

4

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Simone Saumureau

5

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15 September 2017

Phi Yen Vu

9

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Nathalie Leporrier

14

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15 September 2017

publication date

16 November 2008

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15 September 2017

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15 September 2017

volume

124

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15 September 2017

issue

6

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15 September 2017

page(s)

649-658

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A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

15 September 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-008-0588-3

Single-stranded conformational polymorphism analysis of the mitochondrial glycerol phosphate dehydrogenase gene in NIDDM.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-008-0588-3

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

21 January 2018

1 reference

12 December 2020

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

1 reference

12 December 2020

Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS)

1 reference

12 December 2020

Polyhydroxybenzoates inhibit ascorbic acid activation of mitochondrial glycerol-3-phosphate dehydrogenase: implications for glucose metabolism and insulin secretion

1 reference

12 December 2020

Germ cell nuclear factor relieves cAMP-response element modulator tau-mediated activation of the testis-specific promoter of human mitochondrial glycerol-3-phosphate dehydrogenase

1 reference

12 December 2020

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

12 December 2020

Genetics and pathophysiology of mental retardation

1 reference

12 December 2020

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

1 reference

12 December 2020

Neuronal uptake and metabolism of glycerol and the neuronal expression of mitochondrial glycerol‐3‐phosphate dehydrogenase

1 reference

12 December 2020

Mitochondrial dysfunction in bipolar disorder: evidence from magnetic resonance spectroscopy research

1 reference

12 December 2020

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism

1 reference

12 December 2020

Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome

1 reference

12 December 2020

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

1 reference

12 December 2020

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

1 reference

12 December 2020

Structural organization and mapping of the human mitochondrial glycerol phosphate dehydrogenase-encoding gene and pseudogene

1 reference

12 December 2020

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Mutation in the calcium-binding domain of the mitochondrial glycerophosphate dehydrogenase gene in a family of diabetic subjects

1 reference

12 December 2020

A genome-wide association study identifies novel risk loci for type 2 diabetes

1 reference

12 December 2020

Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 National Health Interview Survey Disability Supplements.

1 reference

12 December 2020

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

1 reference

12 December 2020

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

12 December 2020

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

1 reference

12 December 2020

Rat mitochondrial glycerol-3-phosphate dehydrogenase gene: multiple promoters, high levels in brown adipose tissue, and tissue-specific regulation by thyroid hormone

1 reference

12 December 2020

Normal thyroid thermogenesis but reduced viability and adiposity in mice lacking the mitochondrial glycerol phosphate dehydrogenase

1 reference

12 December 2020

Identification and functional analysis of mutations in FAD-binding domain of mitochondrial glycerophosphate dehydrogenase in caucasian patients with type 2 diabetes mellitus.

1 reference

12 December 2020

Developmental regression and mitochondrial dysfunction in a child with autism

1 reference

12 December 2020

10.1007/S00439-008-0588-3

Identifiers

DOI

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15 September 2017

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