(Q34529963)

2 August 2017

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title

Genetics and pathophysiology of mental retardation (English)

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2 August 2017

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Fiona Francis

3

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author name string

Jamel Chelly

1

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2 August 2017

Malik Khelfaoui

2

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2 August 2017

Beldjord Chérif

4

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2 August 2017

Thierry Bienvenu

5

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2 August 2017

1 June 2006

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European Journal of Human Genetics

2 August 2017

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2 August 2017

14

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2 August 2017

701-713

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2 August 2017

6

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201595

2 August 2017

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The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

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Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

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Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

21 January 2018

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Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features.

21 January 2018

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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

21 January 2018

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

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Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

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Molecular and comparative genetics of mental retardation

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Genes for intelligence on the X chromosome.

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X-linked genes and mental functioning

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A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?

21 January 2018

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Human disorders of cortical development: from past to present

21 January 2018

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IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis

21 January 2018

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From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome

21 January 2018

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Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome

21 January 2018

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CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

21 January 2018

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From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP.

21 January 2018

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Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3.

21 January 2018

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The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus

21 January 2018

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The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis.

21 January 2018

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Rho proteins, mental retardation and the cellular basis of cognition

21 January 2018

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

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X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

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Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

21 January 2018

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

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Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

21 January 2018

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Neurexin mediates the assembly of presynaptic terminals

21 January 2018

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Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons

21 January 2018

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The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion

21 January 2018

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Role of rab GDP dissociation inhibitor alpha in regulating plasticity of hippocampal neurotransmission

21 January 2018

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Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.

21 January 2018

1 reference

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The molecular biology of memory storage: a dialogue between genes and synapses

21 January 2018

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Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1

21 January 2018

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Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1

21 January 2018

1 reference

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Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

MECP2 mutations account for most cases of typical forms of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

DNA methylation and Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

MeCP2 in neurons: closing in on the causes of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

The transcriptional repressor Mecp2 regulates terminal neuronal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

The MAPK cascade is required for mammalian associative learning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Teaching mathematics to students with mild-to-moderate mental retardation: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Long-term consequences of congenital hypothyroidism in the era of screening programmes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Exploring new approaches to the treatment of asthma: potential roles for lipoxins and aspirin-triggered lipid mediators

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

Intelligence and the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

7 January 2021

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

7 January 2021

Increased histone acetyltransferase and lysine acetyltransferase activity and biphasic activation of the ERK/RSK cascade in insular cortex during novel taste learning.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

7 January 2021

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

7 January 2021

A longitudinal study of active treatment of adaptive skills of individuals with profound mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201595

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201595

1 reference

2 August 2017

1 reference