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 of
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The fragile-X premutation: a maturing perspective.Unstable mutations in the FMR1 gene and the phenotypesThe FMR1 gene, infertility, and reproductive decision-making: a reviewFragile X syndrome: A review of clinical managementAdvanced technologies for the molecular diagnosis of fragile X syndromeThe role of AGG interruptions in the transcription of FMR1 premutation allelesAttitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserveFrom FMRP function to potential therapies for fragile X syndrome.Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserveMavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study.Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disordersMethylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxineEvidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesSmall CGG repeat expansion alleles of FMR1 gene are associated with parkinsonismPsychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonismHigh-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction techniqueLow-normal FMR1 CGG repeat length: phenotypic associations.Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.FMR1 and the fragile X syndrome: human genome epidemiology reviewRelationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertCommercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory.Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.Development and validation of a multiplex-PCR assay for X-linked intellectual disability.Distribution of AGG interruption patterns within nine world populations.FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesThe FMR1 gene and fragile X-associated tremor/ataxia syndrome.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Glycogen synthase kinase-3: a promising therapeutic target for fragile x syndromeAxonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.
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P2860
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 of
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Technical standards and guidel ...... lity Assurance Subcommittee of
@nl
type
label
Technical standards and guidel ...... lity Assurance Subcommittee of
@nl
prefLabel
Technical standards and guidel ...... lity Assurance Subcommittee of
@nl
P2093
P2860
P1433
P1476
Technical standards and guidel ...... Laboratory Practice Committee
@en
P2093
A Brothman
A Maddalena
B Popovich
C S Richards
G A McDowell
M J McGinniss
P2860
P356
10.1097/00125817-200105000-00010
P407
P577
2001-01-01T00:00:00Z
P5875
P6179
1017294641