Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.
about
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Simple tandem DNA repeats and human genetic diseaseEMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseFriedreich ataxia: an overviewMolecular genetics and genetic testing in myotonic dystrophy type 1.The paternal genome and the health of the assisted reproductive technology childPopulation genetic relationships between Mediterranean populations determined by HLA allele distribution and a historic perspectiveMolecular basis of genetic instability of triplet repeatsContribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analysesMeasurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.Neuroacanthocytosis associated with a defect of the 4.1R membrane proteinFamilial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases.Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophreniaHuntington's disease in Saudi Arabia.A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populationsThe epidemiology of Huntington's disease in Northern Ireland.Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents.Instability of normal (CTG)n alleles in the DM kinase gene.Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease.Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.Age-associated sperm DNA methylation alterations: possible implications in offspring disease susceptibility.A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sistersMutations in btk in patients with presumed X-linked agammaglobulinemia.Mechanisms of trinucleotide repeat instability during human developmentThe likelihood of being affected with Huntington disease by a particular age, for a specific CAG sizeDifferent mechanisms underlie DNA instability in Huntington disease and colorectal cancerFamily history and DNA analysis in patients with suspected Huntington's disease.Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.Technical standards and guidelines for Huntington disease testing.Correlation between CAG repeat length and clinical features in Machado-Joseph diseaseAnticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.Genomic imprinting: mechanism and role in human pathology.Proceed with care: direct predictive testing for Huntington disease.Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.The paradigm of Huntington's disease: therapeutic opportunities in neurodegeneration.Differential display of genome subsets containing specific interspersed repeats.Polyglutamine Tract Expansion Increases S-Nitrosylation of Huntingtin and Ataxin-1.Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications.
P2860
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P2860
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.
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
Molecular analysis of new muta ...... les and sex of origin effects.
@en
Molecular analysis of new muta ...... les and sex of origin effects.
@nl
type
label
Molecular analysis of new muta ...... les and sex of origin effects.
@en
Molecular analysis of new muta ...... les and sex of origin effects.
@nl
prefLabel
Molecular analysis of new muta ...... les and sex of origin effects.
@en
Molecular analysis of new muta ...... les and sex of origin effects.
@nl
P2093
P356
P1433
P1476
Molecular analysis of new muta ...... eles and sex of origin effects
@en
P2093
Goldberg YP
Telenius H
Theilmann J
P2888
P304
P356
10.1038/NG1093-174
P407
P577
1993-10-01T00:00:00Z
P5875
P6179
1005018725