-
1
-
-
0022625484
-
Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe
-
Reeders ST, Zerres K, Gal A, Hogenkamp T, Propping P, Schmidt W, Waldherr R, Dolata MM, Davies KE, Weatherall DJ: Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet 2: 6-8, 1986
-
(1986)
Lancet
, vol.2
, pp. 6-8
-
-
Reeders, S.T.1
Zerres, K.2
Gal, A.3
Hogenkamp, T.4
Propping, P.5
Schmidt, W.6
Waldherr, R.7
Dolata, M.M.8
Davies, K.E.9
Weatherall, D.J.10
-
2
-
-
0024309003
-
Mapping the locus of autosomal dominant polycystic kidney disease: Diagnostic application
-
Reeders ST, Germino GG, Gillespie GA: Mapping the locus of autosomal dominant polycystic kidney disease: diagnostic application. Clin Chem 35: B13-B16, 1989
-
(1989)
Clin Chem
, vol.35
-
-
Reeders, S.T.1
Germino, G.G.2
Gillespie, G.A.3
-
3
-
-
0028278058
-
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
-
European Polycystic Kidney Disease Consortium
-
European Polycystic Kidney Disease Consortium: The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77: 881-894, 1994
-
(1994)
Cell
, vol.77
, pp. 881-894
-
-
-
4
-
-
15844385078
-
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
-
Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhusien B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJM, Somlo S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272: 1339-1342, 1996
-
(1996)
Science
, vol.272
, pp. 1339-1342
-
-
Mochizuki, T.1
Wu, G.2
Hayashi, T.3
Xenophontos, S.L.4
Veldhusien, B.5
Saris, J.J.6
Reynolds, D.M.7
Cai, Y.8
Gabow, P.A.9
Pierides, A.10
Kimberling, W.J.11
Breuning, M.H.12
Deltas, C.C.13
Peters, D.J.M.14
Somlo, S.15
-
5
-
-
16944366176
-
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
-
Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning ME, Somlo S, Peters DJM: A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 61: 547-555, 1997
-
(1997)
Am J Hum Genet
, vol.61
, pp. 547-555
-
-
Veldhuisen, B.1
Saris, J.J.2
de Haij, S.3
Hayashi, T.4
Reynolds, D.M.5
Mochizuki, T.6
Elles, R.7
Fossdal, R.8
Bogdanova, N.9
van Dijk, M.A.10
Coto, E.11
Ravine, D.12
Nørby, S.13
Verellen-Dumoulin, C.14
Breuning, M.E.15
Somlo, S.16
Peters, D.J.M.17
-
6
-
-
0029655664
-
Screening the 3′ region of the polycystic kidney disease 1 ( PKD1) gene reveals six novel mutations
-
Peral B, San Millán JL, Ong ACM, Gamble V, Ward CJ, Strong C, Harris PC: Screening the 3′ region of the polycystic kidney disease 1 ( PKD1) gene reveals six novel mutations. Am J Hum Genet 58: 86-96, 1996
-
(1996)
Am J Hum Genet
, vol.58
, pp. 86-96
-
-
Peral, B.1
San Millán, J.L.2
Ong, A.C.M.3
Gamble, V.4
Ward, C.J.5
Strong, C.6
Harris, P.C.7
-
7
-
-
0035028683
-
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples
-
Phakdeekitcharoen B, Watnick T, Germino GG: Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol 12: 955-963, 2001
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 955-963
-
-
Phakdeekitcharoen, B.1
Watnick, T.2
Germino, G.G.3
-
8
-
-
0035171856
-
Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications
-
Rossetti S, Strmecki L, Gamble V, Burton S, Sneddon V, Peral B, Roy S, Bakkaloglu A, Komel R, Winearls CG, Harris PC: Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications. Am J Hum Genet 68: 46-63, 2001
-
(2001)
Am J Hum Genet
, vol.68
, pp. 46-63
-
-
Rossetti, S.1
Strmecki, L.2
Gamble, V.3
Burton, S.4
Sneddon, V.5
Peral, B.6
Roy, S.7
Bakkaloglu, A.8
Komel, R.9
Winearls, C.G.10
Harris, P.C.11
-
9
-
-
34548505547
-
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease
-
Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK, Lan Z, Allen E, Qian F, Lens XM, Pei Y, Germino GG, Watnick TJ: Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab 92: 160-167, 2007
-
(2007)
Mol Genet Metab
, vol.92
, pp. 160-167
-
-
Garcia-Gonzalez, M.A.1
Jones, J.G.2
Allen, S.K.3
Palatucci, C.M.4
Batish, S.D.5
Seltzer, W.K.6
Lan, Z.7
Allen, E.8
Qian, F.9
Lens, X.M.10
Pei, Y.11
Germino, G.G.12
Watnick, T.J.13
-
10
-
-
34447286491
-
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
-
Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC: Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 18: 2143-2160, 2007
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2143-2160
-
-
Rossetti, S.1
Consugar, M.B.2
Chapman, A.B.3
Torres, V.E.4
Guay-Woodford, L.M.5
Grantham, J.J.6
Bennett, W.M.7
Meyers, C.M.8
Walker, D.L.9
Bae, K.10
Zhang, Q.J.11
Thompson, P.A.12
Miller, J.P.13
Harris, P.C.14
-
11
-
-
38749112619
-
Molecular diagnostics in autosomal dominant polycystic kidney disease: Utility and limitations
-
Zhao X, Paterson A, Zahirieh A, He N, Wang K, Pei Y: Molecular diagnostics in autosomal dominant polycystic kidney disease: Utility and limitations. Clin J Am Soc Nephrol 3: 146-152, 2007
-
(2007)
Clin J Am Soc Nephrol
, vol.3
, pp. 146-152
-
-
Zhao, X.1
Paterson, A.2
Zahirieh, A.3
He, N.4
Wang, K.5
Pei, Y.6
-
12
-
-
0028351429
-
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
-
Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM: Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 343: 824-827, 1994
-
(1994)
Lancet
, vol.343
, pp. 824-827
-
-
Ravine, D.1
Gibson, R.N.2
Walker, R.G.3
Sheffield, L.J.4
Kincaid-Smith, P.5
Danks, D.M.6
-
13
-
-
34047276812
-
Autosomal dominant polycystic kidney disease
-
Torres VE, Harris PC, Pirson Y: Autosomal dominant polycystic kidney disease. Lancet 369: 1287-1301, 2007
-
(2007)
Lancet
, vol.369
, pp. 1287-1301
-
-
Torres, V.E.1
Harris, P.C.2
Pirson, Y.3
-
14
-
-
34447253044
-
PKDB: Polycystic Kidney Disease Mutation Database: A gene variant database for autosomal dominant polycystic kidney disease
-
Gout AM, Martin NC, Brown AF, Ravine D: PKDB: Polycystic Kidney Disease Mutation Database: A gene variant database for autosomal dominant polycystic kidney disease. Hum Mutat 28: 654-659, 2007
-
(2007)
Hum Mutat
, vol.28
, pp. 654-659
-
-
Gout, A.M.1
Martin, N.C.2
Brown, A.F.3
Ravine, D.4
|