R. Aspinwall

发表

Linkage to nodal osteoarthritis: quantitative and qualitative analyses of data from a whole-genome screen identify trait-dependent susceptibility loci

S. John, W. Ollier, M. Doherty, 2006, Annals of the rheumatic diseases.

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.

J. Sharpe, J. Sloane-Stanley, L. Strmečki, 2000, Human molecular genetics.

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog

P. Harris, O. Hino, J. Cheadle, 1997, Mammalian Genome.

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

S. Eyre, K. Wolstencroft, P. Beighton, 2005, Journal of medical genetics.

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

S. Eyre, K. Wolstencroft, P. Beighton, 2002, Journal of medical genetics.

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

J. Hughes, P. Harris, C. Ward, 1995, Nature Genetics.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

K. Bae, S. Özen, A. Chapman, 2008, Kidney international.

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

E. Haan, P. Harris, D. Ravine, 1997, American journal of human genetics.

Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.

J. Hughes, P. Harris, C. Ward, 1999, Human molecular genetics.

Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III.

T. Lindahl, I. Hickson, P. Harris, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies.

X. Estivill, P. Harris, R. Torra, 1998, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

S. Eyre, K. Wolstencroft, P. Beighton, 2005, Journal of medical genetics.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

S. Özen, A. Chapman, P. Lundquist, 2008, Kidney international.