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X-linked mental retardation
scientific article published on 01 January 1999
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
review article
1 reference
stated in
Europe PubMed Central
title
X-linked mental retardation
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
author name string
Neri G
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
Chiurazzi P
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
publication date
1 January 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
published in
Advances in Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
volume
41
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
page(s)
55-94
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
cites work
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.
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PAK3 mutation in nonsyndromic X-linked mental retardation
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Aarskog syndrome: full male and female expression associated with an X-autosome translocation
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A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?
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Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene
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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
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Transcriptional organization of a 450-kb region of the human X chromosome in Xq28
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Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22.
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The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.
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Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.
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Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome
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No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.
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Significance of linkage disequilibrium between the fragile X locus and its flanking markers
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7 January 2021
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In vitro reactivation of the FMR1 gene involved in fragile X syndrome
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7 January 2021
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A new X-linked mental retardation syndrome
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Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance
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The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes
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Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1
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7 January 2021
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Mutations in GDI1 are responsible for X-linked non-specific mental retardation
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7 January 2021
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Secondary structures in d(CGG) and d(CCG) repeat tracts
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A point mutation in the FMR-1 gene associated with fragile X mental retardation
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Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
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Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene
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Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype
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The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
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Evolution of simple repeats in DNA and their relation to human disease
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The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage
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Fine structure of the human FMR1 gene
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Length of uninterrupted CGG repeats determines instability in the FMR1 gene
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7 January 2021
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Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.
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7 January 2021
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Translational suppression by trinucleotide repeat expansion at FMR1.
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7 January 2021
based on heuristic
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FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association
1 reference
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Crossref
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7 January 2021
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Folic acid treatment in males and females with fragile-(X)-syndrome.
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7 January 2021
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The Coffin syndrome.
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7 January 2021
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The role of Rab3A in neurotransmitter release.
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7 January 2021
based on heuristic
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Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
1 reference
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7 January 2021
based on heuristic
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Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
1 reference
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7 January 2021
based on heuristic
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A newly defined X linked mental retardation syndrome associated with alpha thalassaemia
1 reference
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7 January 2021
based on heuristic
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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
A new X-linked mental retardation-overgrowth syndrome.
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7 January 2021
based on heuristic
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Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression
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7 January 2021
based on heuristic
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Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations
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7 January 2021
based on heuristic
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Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome
1 reference
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7 January 2021
based on heuristic
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Fragile X: treatment of hyperactivity
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7 January 2021
based on heuristic
inferred from DOI database lookup
Oral folic acid versus placebo in the treatment of males with the fragile X syndrome
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7 January 2021
based on heuristic
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High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
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7 January 2021
based on heuristic
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Fragile X syndrome and deletions in FMR1: New case and review of the literature
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7 January 2021
based on heuristic
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Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.
1 reference
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
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Methylation analysis of CGG sites in the CpG island of the human FMR1 gene
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Association of fragile X syndrome with delayed replication of the FMR1 gene
1 reference
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7 January 2021
based on heuristic
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Role of late replication timing in the silencing of X-linked genes.
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
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The stabilization of repetitive tracts of DNA by variant repeats requires a functional DNA mismatch repair system
1 reference
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7 January 2021
based on heuristic
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Nonspecific X-linked mental retardation II: the frequency in British Columbia.
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of neocortex in three males with the fragile X syndrome
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
FMR1 triplet arrays: paying the price for perfection
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Precursor arrays for triplet repeat expansion at the fragile X locus
1 reference
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
The Coffin-Lowry syndrome. Experience from four centres.
1 reference
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
In vitro DNA methylation inhibits FMR-1 promoter.
1 reference
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.
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7 January 2021
based on heuristic
inferred from DOI database lookup
The Golabi-Rosen syndrome
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7 January 2021
based on heuristic
inferred from DOI database lookup
Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Stalling of human DNA (cytosine-5) methyltransferase at single-strand conformers from a site of dynamic mutation
1 reference
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
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7 January 2021
based on heuristic
inferred from DOI database lookup
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A New Dominant Gene Mental Retardation Syndrome
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reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
XLMR genes: Update 1998
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA methylation of the fragile X locus in somatic and germ cells during fetal development: relevance to the fragile X syndrome and X inactivation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of the full fragile X syndrome mutation in fetal gametes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide diseases on the rise
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning of a new member of the p21-Cdc42/Rac-activated kinase (PAK) family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeats associated with human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epilepsy and fragile X syndrome: a follow-up study.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A girl with G syndrome and agenesis of the corpus callosum.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
XLMR genes: update 1990.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Golabi-Rosen syndrome--report of a second family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Absence of expression of the FMR-1 gene in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuroanatomy of fragile X syndrome: the posterior fossa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurodevelopmental effects of the FMR-1 full mutation in humans.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Simple repeat DNA is not replicated simply
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeats affect DNA replication in vivo
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Slippage synthesis of simple sequence DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Normal phenotype in two brothers with a full FMR1 mutation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA methylation represses FMR-1 transcription in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FMRP is associated to the ribosomes via RNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Weaver-like syndrome in a Japanese boy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alternative splicing in the fragile X gene FMR1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
XNP mutation in a large family with Juberg-Marsidi syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without a-Thalassemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Population incidence and segregation ratios in the Martin-Bell syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glypicans: a growing trend
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of genetic instability of triplet repeats
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid antibody test for fragile X syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis of fragile X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of FMRP with ribosomal precursor particles in the nucleolus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural insights into the function of the Rab GDI superfamily
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Coffin-Lowry syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2808%2960151-0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0065-2660(08)60151-0
0 references
PubMed ID
10494617
1 reference
stated in
Europe PubMed Central
PubMed ID
10494617
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10494617%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
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