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

Unstable DNA sequence in myotonic dystrophy

H G Harley, S.A. Rundle, William Reardon, +5

The Lancet

Mendelian DisorderGenetic DisorderNatural SciencesGeneticsDna Replication +3

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

Magitha M. Maheshwar, Jeremy P. Cheadle, Adriane C. Jones, +4

Human Molecular Genetics

Randomized Trial of a Specialist Genetic Assessment Service for Familial Breast Cancer

Kate Brain, J. Gray, Paul Norman, +23

JNCI Journal of the National Cancer Institute

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness

Margaret Phillips, Mark T. Rogers, Rebecca A. Barnetson, +6

Neuromuscular Disorders

Rare DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +10

Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

J Myring, Andrea L. Meredith, H G Harley, +4

Journal of Medical Genetics

Rare DiseasesCtg MutationDevelopmental BiologySpecific MutationMendelian Disorder +11

Five years experience of predictive testing for myotonic dystrophy using linked DNA markers

William Reardon, Jo L. Floyd, J Myring, +3

American Journal of Medical Genetics

Cataract and myotonic dystrophy: the role of molecular diagnosis.

William Reardon, J. MacMillan, J Myring, +5

British Journal of Ophthalmology

Rare DiseasesOcular DiseaseMendelian DisorderOphthalmologyFamily Members +11

Mutation analysis of 184 cystic fibrosis families in Wales.

Jeremy P. Cheadle, J Myring, Layla N. Al-Jader, +1

Journal of Medical Genetics

Genetic AnalysisCystic Fibrosis FamiliesMendelian DisorderMolecular EcologyGenetic Disorder +13

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1

JM Lancaster, M. J. Carney, J. Gray, +8

British Journal of Cancer

Recurrent MutationsBreast OncologyMedicineGeneticsBreast Cancer Families +5