J P Harpey

Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors.

Michel Bahuau, Dominique Vidaud, Robert B. Jenkins et al. · PubMed · 1998 · 165 citations

Cancer Pathology, Genetics, Genetic Epidemiology +23

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Brage Storstein Andresen, Peter Bross, Szabolcs Udvari et al. · Human Molecular Genetics · 1997 · 122 citations · Full text

LUPUS-LIKE SYNDROME INDUCED BY D-PENICILLAMINE IN WILSON'S DISEASE

J P Harpey, B Caille, R Moulias et al. · The Lancet · 1971 · 65 citations

Autoimmune Disease, Disease Mechanism, Lupus +3

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Pascale Guicheney, Nicolas Vignier, X Zhang et al. · Journal of Medical Genetics · 1998 · 62 citations · Full text

Rare Diseases, Genetic Testing, Developmental Biology +14

Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness.

Michel Bahuau, Dominique Vidaud, M Kujas et al. · PubMed · 1997 · 31 citations