Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn, +2

Nature

Developmental BiologySomatic VariantMendelian DisorderGenetic DisorderGenetics +4

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley, +21

Cell

Signal TransductionMendelian DisorderGenetic DisorderMedicineGenetics +5

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti, +10

Cell

Sherman ParadoxGenome InstabilityGenetic InstabilityGenetic DisorderMedicine +10

A second-generation linkage map of the human genome

Jean Weissenbach, Gàbor Gyapay, Colette Dib, +5

Nature

GeneticsLinkage AnalysisGenome StructureGenomicsHuman Genome +1

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin, +12

Science

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz, +6

Science

Phenotypic ExpressionEpigenetic ChangeGeneticsMolecular BiologyEpigenetics +14

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

Ying‐Hui Fu, Antonio Pizzuti, Raymond G. Fenwick, +12

Science

Rare DiseasesGene RelatedMendelian DisorderGenetic DisorderMedicine +13

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

Al Edwards, Holly A. Hammond, Jin Li, +2

Genomics

Human Population GroupsGenetic AnalysisAllelic VariantHaplotype DeterminationGenotype-phenotype Association +6

Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) <i>n</i>

Eric J. Kremer, Melanie Pritchard, Michael Lynch, +7

Science

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Helen G. Harley, J. David Brook, S.A. Rundle, +6

Nature

Phenotypic VariationMendelian DisorderGenetic DisorderMedicineGenetics +5