Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
about
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesTechnical 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 ofUnstable mutations in the FMR1 gene and the phenotypesReduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation.Molecular and cellular genetics of fragile X syndrome.A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE lociFragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes.Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.Fragile X syndrome. Molecular and clinical insights and treatment issuesAn n-allele model for progressive amplification in the FMR1 locusA PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.Noninvasive test for fragile X syndrome, using hair root analysis.Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.Predictors and risk model development for menopausal age in fragile X premutation carriers.Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriersClinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyFragile X premutations are not a major cause of early menopause.FRAXA and FRAXE: the results of a five year survey.Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.Quantitative comparison of FMR1 gene expression in normal and premutation allelesPrevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 geneFragile X gene instability: anchoring AGGs and linked microsatellitesFragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.Familial transmission of the FMR1 CGG repeat.PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28Investigation of genetic causes of intellectual disability in kerman province, South East of iran.The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA.Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersSize bias of fragile X premutation alleles in late-onset movement disorders.Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers.
P2860
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P2860
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh-hant
name
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
@en
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
@nl
type
label
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
@en
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
@nl
prefLabel
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
@en
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
@nl
P2093
P1476
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
@en
P2093
A Jeziorowska
E C Jenkins
F N Levinson
J Henderson
S S Brooks
P304
P356
10.1001/JAMA.1993.03510130075034
P407
P577
1993-10-01T00:00:00Z