(Q35026980)

5 August 2017

1 reference

title

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms (English)

1 reference

5 August 2017

Frints SG

1

1 reference

5 August 2017

Froyen G

series ordinal

2

1 reference

5 August 2017

Marynen P

series ordinal

3

1 reference

5 August 2017

Fryns JP

series ordinal

4

1 reference

5 August 2017

1 December 2002

1 reference

5 August 2017

1 reference

5 August 2017

62

1 reference

5 August 2017

423-432

1 reference

5 August 2017

6

1 reference

Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell signalling

5 August 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

A Rett syndrome MECP2 mutation that causes mental retardation in men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

Monogenic causes of X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

The prevalence of mental retardation: a critical review of recent literature.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

The fragile X gene and its function

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Prevalence of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Syndromic XLMR genes (MRXS): update 2000.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Non-specific X linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Intelligence and the X chromosome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Identification of the gene FMR2, associated with FRAXE mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

PAK3 mutation in nonsyndromic X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

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/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

MECP2 is highly mutated in X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

XLMR genes: Update 1998

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Genes for cognitive function: developments on the X.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

XLMR genes: update 2000.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Nomenclature guidelines for X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

FMR2 expression in families with FRAXE mental retardation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Characterisation and expression of a large, 13.7 kb FMR2 isoform

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Small GTP-binding proteins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Rho proteins, mental retardation and the cellular basis of cognition

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

1 reference

7 January 2021

Rho GTPases in growth cone guidance

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

The role of Rho GTPases and associated kinases in regulating neurite outgrowth

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

p21-activated kinases: three more join the Pak.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Regulation of the Cool/Pix proteins: key binding partners of the Cdc42/Rac targets, the p21-activated kinases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Characterization of integrin-tetraspanin adhesion complexes: role of tetraspanins in integrin signaling

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Bidirectional signaling between the cytoskeleton and integrins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Transmembrane-4 superfamily proteins associate with activated protein kinase C (PKC) and link PKC to specific beta(1) integrins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Integrin-mediated regulation of synaptic morphology, transmission, and plasticity.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

In vivo fatty acid incorporation into brain phosholipids in relation to plasma availability, signal transduction and membrane remodeling

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Changing fatty acid content of growth cone lipids prior to synaptogenesis.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Splitting and lumping in the nosology of XLMR.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

A phosphoserine-regulated docking site in the protein kinase RSK2 that recruits and activates PDK1.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Rett syndrome: clinical correlates of the newly discovered gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Rett syndrome: clinical manifestations in males with MECP2 mutations.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

In-frame deletion inMECP2 causes mild nonspecific mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Low frequency of MECP2 mutations in mentally retarded males.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Methylated cytosine and the brain: a new base for neuroscience

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

DNA methylation in health and disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Detecting functional asymmetries through the dipole moment of magnetoencephalography.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Segregating the functions of human hippocampus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Expressing what's on your mind: DNA arrays and the brain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620601.X

7 January 2021

10.1034/J.1399-0004.2002.620601.X

Identifiers

DOI

1 reference

release_h5nkx2jhezehbh2fo2hyloiwry

5 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/h5nkx2jhezehbh2fo2hyloiwry

24 November 2022

mapped directly with Wikidata item

1 reference