Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.
about
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tractGenotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophyMeasurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.Polyglutamine pathogenesis.Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin.Androgen insensitivity.Evaluation of CAG repeat length of androgen receptor expressing cells in human testes showing different pictures of spermatogenic impairment.High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia.The contributions of deficient androgen action in spermatogenic disorders.Neuropsychiatric aspects of Huntington's disease.Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers.Immunogenicity of P/Q-type calcium channel in small cell lung cancer: investigation of alpha1 subunit polyglutamine expansion.Counting CAG repeats in the Huntington's disease gene by restriction endonuclease EcoP15I cleavage.Standardization of PCR amplification for fragile X trinucleotide repeat measurements.The influence of huntingtin protein size on nuclear localization and cellular toxicity.Influences of array size and homogeneity on minisatellite mutation.The relationship between anogenital distance and the androgen receptor CAG repeat length.Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease.Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease.Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations.Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3.Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
P2860
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P2860
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.
@en
type
label
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.
@en
prefLabel
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.
@en
P356
P1476
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.
@en
P2093
Goldberg YP
P304
P356
10.1093/HMG/6.12.2005
P577
1997-11-01T00:00:00Z