Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
Consugar, Mark B., Wong, Wai C., Lundquist, Patrick A., Rossetti, Sandro, Kubly, Vickie J., Walker, Denise L., Rangel, Laureano J., Aspinwall, Richard, Niaudet, W. Patrick, Özen, Seza, David, Albert, Velinov, Milen, Bergstralh, Eric J., Bae, Kyongtae T., Chapman, Arlene B., Guay-Woodford, Lisa M., Grantham, Jared J., Torres, Vicente E., Sampson, Julian R., Dawson, Brian D., Harris, Peter C., for the CRISP Consortium
Published in Kidney international (01.12.2008)
Published in Kidney international (01.12.2008)
Get full text
Journal Article
Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene
Sampson, Julian R., Maheshwar, Magitha M., Aspinwall, Richard, Thompson, Peter, Cheadle, Jeremy P., Ravine, David, Roy, Sushmita, Haan, Eric, Bernstein, Jay, Harris, Peter C.
Published in American journal of human genetics (01.10.1997)
Published in American journal of human genetics (01.10.1997)
Get full text
Journal Article
Cloning and Characterization of a Functional Human Homolog of Escherichia coli Endonuclease III
Aspinwall, Richard, Rothwell, Dominic G., Roldan-Arjona, Teresa, Anselmino, Catherine, Ward, Christopher J., Cheadle, Jeremy P., Sampson, Julian R., Lindahl, Tomas, Harris, Peter C., Hickson, Ian D.
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.1997)
Get full text
Journal Article
The polycystic kidney disease 1 ( PKD1 ) gene encodes a novel protein with multiple cell recognition domains
Clark, Kevin, Peral, Belén, Gamble, Vicki, San Millán, José L, Hughes, Jim, Ward, Christopher J, Harris, Peter C, Aspinwall, Richard
Published in Nature genetics (01.06.1995)
Published in Nature genetics (01.06.1995)
Get full text
Journal Article
A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype
PRITCHARD, Lynn, SLOANE-STANLEY, Jackie A, JING ZHOU, WOOD, William G, HARRIS, Peter C, SHARPE, Jackie A, ASPINWALL, Richard, WEINING LU, BUCKLE, Veronica, STRMECKI, Lana, WALKER, Denise, WARD, Christopher J, ALPERS, Charles E
Published in Human molecular genetics (01.11.2000)
Published in Human molecular genetics (01.11.2000)
Get full text
Journal Article
Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies
Torra, R, Badenas, C, Darnell, A, Camacho, J A, Aspinwall, R, Harris, P C, Estivill, X
Published in American journal of kidney diseases (01.06.1998)
Published in American journal of kidney diseases (01.06.1998)
Get more information
Journal Article
Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog
Kobayashi, T, Urakami, S, Cheadle, J P, Aspinwall, R, Harris, P, Sampson, J R, Hino, O
Published in Mammalian genome (01.08.1997)
Published in Mammalian genome (01.08.1997)
Get full text
Journal Article