The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.
about
Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee ofCytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersVariable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.FMRP detection assay for the diagnosis of the fragile X syndrome.Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expressionFragile-X syndrome: genetic aspects and stomatologic evaluations.Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disordersMutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.Parkinsonism and cognitive decline in a fragile X mosaic male.Size and methylation mosaicism in males with Fragile X syndrome.A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.Recent advances in assays for the fragile X-related disorders.Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
P2860
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P2860
The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.
description
1996 nî lūn-bûn
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1996年の論文
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年學術文章
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1996年學術文章
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name
The fragile X phenotype in a m ...... 1 protein in 28% of the cells.
@en
The fragile X phenotype in a m ...... 1 protein in 28% of the cells.
@nl
type
label
The fragile X phenotype in a m ...... 1 protein in 28% of the cells.
@en
The fragile X phenotype in a m ...... 1 protein in 28% of the cells.
@nl
prefLabel
The fragile X phenotype in a m ...... 1 protein in 28% of the cells.
@en
The fragile X phenotype in a m ...... 1 protein in 28% of the cells.
@nl
P2093
P2860
P1476
The fragile X phenotype in a m ...... 1 protein in 28% of the cells.
@en
P2093
Mohkamsing S
Willemsen R
de Graaff E
de Vries BB
van Hemel JO
van den Ouweland AM
P2860
P304
P356
10.1002/(SICI)1096-8628(19960809)64:2<302::AID-AJMG14>3.0.CO;2-J
P577
1996-08-01T00:00:00Z