A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi, +57

Cell

Genetic DiseasesGenome InstabilityNovel GeneGenetic DisorderGenetics +8

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Helen G. Harley, S A Rundle, J. MacMillan, +7

PubMed

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

Jeffrey Murray, Kay E. Davies, P S Harper, +3

Nature

Genetic DisorderX ChromosomeGeneticsDuchenne Muscular DystrophyMolecular Biology +5

Aberrant Interactions of Transcriptional Repressor Proteins with the Huntington's Disease Gene Product, Huntingtin

Jonathan M. Boutell, P. Thomas, J. W. Neal, +4

Human Molecular Genetics

Human Genetics. Problems and Approaches

P S Harper

Journal of Medical Genetics

Genetic AnalysisComplex Trait GeneticsHuman PhenotypesGeneticsGenetic Foundation +4

A New DNA Marker Tightly Linked to the Fragile X Locus ( <i>FRAXA</i> )

G K Suthers, David F. Callen, V.J. Hyland, +9

Science

GeneticsGenomic MechanismMolecular BiologyMolecular GeneticsDisease Gene Identification +17

Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci.

P S Harper, Marian L. Rivas, Wilma Β. Bias, +3

PubMed

Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Epidemiology +7

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

Oliver Quarrell, Russell G. Snell, Matthew Curtis, +3

Journal of Medical Genetics

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Meena Upadhyaya, Julie Maynard, M. Osborn, +4

Journal of Medical Genetics

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.

Petros Tsipouras, A L Børresen, S. BAMFORTH, +2

PubMed

GeneticsGenetic EpidemiologyPathologyGene CharacterizationMolecular Genetics +14