(Q34354315)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

review article

1 reference

title

Monogenic causes of X-linked mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Chelly J

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

number of pages

12

1 reference

inferred from page(s)

published in

Nature Reviews Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

669-680

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/35088558

10 November 2019

exact match

0 references

cites work

Williams syndrome: from genotype through to the cognitive phenotype

1 reference

7 January 2021

Subtle chromosomal rearrangements in children with unexplained mental retardation

1 reference

7 January 2021

XLMR genes: update 2000.

1 reference

7 January 2021

FMR1 gene and fragile X syndrome

1 reference

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

7 January 2021

Molecular-clinical spectrum of the ATR-X syndrome

1 reference

7 January 2021

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

1 reference

7 January 2021

XNP mutation in a large family with Juberg-Marsidi syndrome

1 reference

7 January 2021

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

1 reference

7 January 2021

Splitting and lumping in the nosology of XLMR.

1 reference

7 January 2021

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

1 reference

7 January 2021

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

1 reference

7 January 2021

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

1 reference

7 January 2021

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association

1 reference

7 January 2021

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3

1 reference

7 January 2021

Mitogen-regulated RSK2-CBP interaction controls their kinase and acetylase activities

1 reference

7 January 2021

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

1 reference

7 January 2021

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

7 January 2021

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

1 reference

7 January 2021

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

1 reference

7 January 2021

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

1 reference

7 January 2021

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

1 reference

7 January 2021

MECP2 mutation in male patients with non-specific X-linked mental retardation.

1 reference

7 January 2021

MECP2 is highly mutated in X-linked mental retardation.

1 reference

7 January 2021

DNA methylation in health and disease

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

1 reference

7 January 2021

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

1 reference

7 January 2021

Identification of the gene FMR2, associated with FRAXE mental retardation

1 reference

7 January 2021

FRAXA and FRAXE: the results of a five year survey

1 reference

7 January 2021

Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators

1 reference

7 January 2021

Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain.

1 reference

7 January 2021

Rab proteins as membrane organizers

1 reference

7 January 2021

RAB3 and synaptotagmin: the yin and yang of synaptic membrane fusion

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

The role of Rab3A in neurotransmitter release.

1 reference

7 January 2021

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

1 reference

7 January 2021

Rho GTPases in growth cone guidance

1 reference

7 January 2021

Identification of a mouse p21Cdc42/Rac activated kinase

1 reference

7 January 2021

Molecular cloning of a new member of the p21-Cdc42/Rac-activated kinase (PAK) family

1 reference

7 January 2021

PAK3 mutation in nonsyndromic X-linked mental retardation

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

PAK kinases are directly coupled to the PIX family of nucleotide exchange factors

1 reference

7 January 2021

Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily

1 reference

7 January 2021

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

1 reference

7 January 2021

A neural tetraspanin, encoded by late bloomer, that facilitates synapse formation

1 reference

7 January 2021

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

1 reference

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

7 January 2021

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

1 reference

7 January 2021

Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA

1 reference

7 January 2021

Pathological gambling and DNA polymorphic markers at MAO-A and MAO-B genes

1 reference

7 January 2021

Different allele distribution of a regulatory MAOA gene promoter polymorphism in antisocial and anxious-depressive alcoholics.

1 reference

7 January 2021

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

1 reference

7 January 2021

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

1 reference

7 January 2021

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

1 reference

7 January 2021

Noninvasive test for fragile X syndrome, using hair root analysis

1 reference

7 January 2021

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome

1 reference

7 January 2021

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

1 reference

7 January 2021

Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation

1 reference

7 January 2021

Rho GTPases in neuronal morphogenesis

1 reference

7 January 2021

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

1 reference

7 January 2021

Mutational analysis using oligonucleotide microarrays

1 reference

7 January 2021

High-throughput tissue microarray analysis to evaluate genes uncovered by cDNA microarray screening in renal cell carcinoma

1 reference

7 January 2021

Genetics and general cognitive ability

1 reference

7 January 2021

FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations

1 reference

7 January 2021

Integrin signaling: specificity and control of cell survival and cell cycle progression

1 reference

7 January 2021

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

7 January 2021

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

1 reference

7 January 2021

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

7 January 2021

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

1 reference

7 January 2021

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

1 reference

7 January 2021

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

7 January 2021

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

1 reference

7 January 2021

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

1 reference

7 January 2021

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

1 reference

7 January 2021

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

7 January 2021

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

7 January 2021

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

1 reference

7 January 2021

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

1 reference

7 January 2021

A telomerase component is defective in the human disease dyskeratosis congenita

1 reference

7 January 2021

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

1 reference

7 January 2021

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

1 reference

7 January 2021

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

1 reference

7 January 2021

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

1 reference

7 January 2021

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

1 reference

7 January 2021

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

7 January 2021

Identifiers

DOI

10.1038/35088558

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11533716%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 November 2019

0 references

1 reference