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X linked mental retardation: a clinical guide
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
X linked mental retardation: a clinical guide
(English)
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
author name string
F L Raymond
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
language of work or name
English
0 references
publication date
23 August 2005
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
volume
43
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
page(s)
193-200
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
issue
3
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
cites work
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
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1 October 2017
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene
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1 October 2017
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
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1 October 2017
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
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PubMed Central
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1 October 2017
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
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1 October 2017
NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population
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1 October 2017
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)
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1 October 2017
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)
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PubMed Central
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1 October 2017
Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands
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1 October 2017
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
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PubMed Central
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1 October 2017
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
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PubMed Central
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1 October 2017
High prevalence of SLC6A8 deficiency in X-linked mental retardation
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PubMed Central
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1 October 2017
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
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PubMed Central
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1 October 2017
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
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PubMed Central
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1 October 2017
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
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PubMed Central
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1 October 2017
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
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PubMed Central
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1 October 2017
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
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PubMed Central
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1 October 2017
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
Nonsyndromic X-linked mental retardation: where are the missing mutations?
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.
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PubMed Central
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1 October 2017
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
1 reference
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PubMed Central
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1 October 2017
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
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PubMed Central
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1 October 2017
Coffin-Lowry syndrome: clinical and molecular features
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PubMed Central
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1 October 2017
Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies
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PubMed Central
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1 October 2017
AGTR2 mutations in X-linked mental retardation
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PubMed Central
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1 October 2017
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
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PubMed Central
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1 October 2017
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
1 reference
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PubMed Central
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1 October 2017
FMR1 and the fragile X syndrome: human genome epidemiology review
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1 October 2017
Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations
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PubMed Central
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1 October 2017
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
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PubMed Central
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1 October 2017
MRX review
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PubMed Central
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1 October 2017
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
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PubMed Central
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1 October 2017
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
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PubMed Central
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1 October 2017
Genes for cognitive function: developments on the X.
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1 October 2017
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
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1 October 2017
Subtle chromosomal rearrangements in children with unexplained mental retardation
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1 October 2017
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
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PubMed Central
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1 October 2017
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
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1 October 2017
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
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PubMed Central
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1 October 2017
PAK3 mutation in nonsyndromic X-linked mental retardation
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PubMed Central
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1 October 2017
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
1 reference
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PubMed Central
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1 October 2017
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
1 reference
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PubMed Central
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1 October 2017
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
1 reference
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PubMed Central
reference URL
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1 October 2017
Recurrence risks in mental retardation
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PubMed Central
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1 October 2017
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group
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PubMed Central
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1 October 2017
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
Identification of the gene FMR2, associated with FRAXE mental retardation
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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1 October 2017
The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers
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PubMed Central
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1 October 2017
A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology
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PubMed Central
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1 October 2017
Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology
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1 October 2017
The risk of having a second retarded child
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PubMed Central
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1 October 2017
Non-specific X linked mental retardation
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PubMed Central
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1 October 2017
Colchester revisited: a genetic study of mental defect
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1 October 2017
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
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PubMed Central
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29 June 2018
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
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29 June 2018
The incidence of mental and physical handicaps in school age children of very low birth weight. II.
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29 June 2018
Recurrence risks in severe undiagnosed mental deficiency
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PubMed Central
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29 June 2018
Mental retardation in over half-a-million consecutive livebirths: an epidemiological study
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29 June 2018
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
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PubMed Central
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29 June 2018
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
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PubMed Central
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22 September 2018
A population-based study of the recurrence of developmental disabilities--Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1991-94.
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PubMed Central
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22 September 2018
Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
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22 September 2018
Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry
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PubMed Central
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22 September 2018
Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.
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22 September 2018
Screening of the ARX gene in 682 retarded males.
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PubMed Central
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22 September 2018
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?
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22 September 2018
The assertion that a G21V mutation in AGTR2 causes mental retardation is not supported by other studies.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
retrieved
22 September 2018
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
retrieved
22 September 2018
Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
retrieved
22 September 2018
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
retrieved
22 September 2018
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
Recurrence risks in undiagnosed mental retardation
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
MECP2 mutation in male patients with non-specific X-linked mental retardation.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
Nonspecific X-linked mental retardation II: the frequency in British Columbia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
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22 September 2018
Sib risks for nonspecific mental retardation in British Columbia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563255
retrieved
22 September 2018
Recurrence risk of mental retardation in sibs
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/16118346
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.2005.033043
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
PMCID
2563255
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
PubMed ID
16118346
1 reference
stated in
Europe PubMed Central
PMCID
2563255
retrieved
13 August 2017
ResearchGate publication ID
7643096
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