Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

No abstract is available for this paper.

• Publication year

  1997

• Venue

  Human Genetics

• Publication date

  1997-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s004390050363PMID 9050914
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Quantitative comparison of FMR1 gene expression in normal and premutation alleles.

  1995cited by this paper
• Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

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• Quantitative comparison of FMR1 gene expression in normal and premutation alleles.

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• Rapid antibody test for fragile X syndrome.

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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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• Prevalence of fragile X syndrome.

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• Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

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• Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

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• Prenatal diagnosis of fragile X syndrome.

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• Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

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• Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.

  2023cites this paper
• A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome

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• Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations

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• Glucocorticoid regulation and neuroanatomy in fragile x syndrome.

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• Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons

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• Immunohistochemical Screening for Fragile X Syndrome in a Population of Costa Rican Children and Adolescents

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• Social Escape Behaviors in Children with Fragile X Syndrome

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• Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome

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• Fragile X syndrome and fragile X-associated tremor/ataxia syndrome

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• Fragile X-Linked Mental Retardation

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• The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.

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• Preliminary results of the immunohistochemical neonatal screening for detecting the fragile X syndrome

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• Technical experiences in the use of the immunohistochemical test for diagnosing Fragile X syndrome

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• Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

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• 8 Fragile X syndrome

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• The Fragile X Syndrome and the Fragile X Mutation

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• Génération et caractérisation d'anticorps monoclonaux dirigés contre la protéine FMR1 et leur utilisation pour le diagnostic du syndrome X-fragile

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• Estudio de la proteína FMRP en la raíz de cabello: aplicación al diagnóstico del síndrome del cromosoma X frágil

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• Mental retardation

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• A Val227Ala polymorphism in the peroxisome proliferator activated receptor alpha (PPARalpha) gene is associated with variations in serum lipid levels.

  2002cites this paper
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• Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

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• SÍNDROME FRÁGIL X.

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• A Val 227 Ala polymorphism in the peroxisome proliferator activated receptor α ( PPAR á ) gene is associated with variations in serum lipid levels

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• A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1messenger RNA

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• Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

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• Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

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