Laboratory Guidelines for Huntington Disease Genetic Testing

This publication has 32 references indexed in Scilit:

• Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses
  Human Molecular Genetics, 1997
• Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
  Nature Genetics, 1997
• Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
  Human Molecular Genetics, 1995
• Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum
  Human Molecular Genetics, 1995
• Somatic mosaicism in sperm is associated with intergenerational (CAG)_n changes in Huntington disease
  Human Molecular Genetics, 1995
• Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains
  Neurobiology of Disease, 1994
• Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
  Nature Genetics, 1994
• Gametic but not somatic instability of CAG repeat length in Huntington's disease.
  Journal of Medical Genetics, 1993
• De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
  Nature Genetics, 1993
• A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
  Molecular and Cellular Probes, 1993