-
1
-
-
0027925829
-
Autosomal dominant polycystic kidney disease
-
Gabow PA: Autosomal dominant polycystic kidney disease. N Engl J Med 329:332-342, 1993
-
(1993)
N Engl J Med
, vol.329
, pp. 332-342
-
-
Gabow, P.A.1
-
2
-
-
0026743940
-
Intracranial aneurysms in autosomal dominant polycystic kidney disease
-
Chapman AB, Rubinstein D, Hughes R, Stears JC, Earnest MP, Johnson AM, Gabow PA, Kaehny WD: Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med 327:916-920, 1992
-
(1992)
N Engl J Med
, vol.327
, pp. 916-920
-
-
Chapman, A.B.1
Rubinstein, D.2
Hughes, R.3
Stears, J.C.4
Earnest, M.P.5
Johnson, A.M.6
Gabow, P.A.7
Kaehny, W.D.8
-
3
-
-
0029069583
-
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
-
Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millàn JS, Gamble V, Harris PC: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet 10:151-160, 1995
-
(1995)
Nature Genet
, vol.10
, pp. 151-160
-
-
Hughes, J.1
Ward, C.J.2
Peral, B.3
Aspinwall, R.4
Clark, K.5
San Millàn, J.S.6
Gamble, V.7
Harris, P.C.8
-
4
-
-
0022410264
-
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
-
Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ: A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542-544, 1985
-
(1985)
Nature
, vol.317
, pp. 542-544
-
-
Reeders, S.T.1
Breuning, M.H.2
Davies, K.E.3
Nicholls, R.D.4
Jarman, A.P.5
Higgs, D.R.6
Pearson, P.L.7
Weatherall, D.J.8
-
5
-
-
0028278058
-
The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16
-
European Polycystic Kidney Disease Consortium: The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894, 1994
-
(1994)
Cell
, vol.77
, pp. 881-894
-
-
-
6
-
-
0028942745
-
Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat
-
American PKD1 Consortium: Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum Mol Genet 4:575-582, 1995
-
(1995)
Hum Mol Genet
, vol.4
, pp. 575-582
-
-
-
7
-
-
0029002967
-
Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
-
International PKD Consortium: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81:289-298, 1995
-
(1995)
Cell
, vol.81
, pp. 289-298
-
-
-
8
-
-
0027767585
-
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23
-
Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S: Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472, 1993
-
(1993)
Genomics
, vol.18
, pp. 467-472
-
-
Kimberling, W.J.1
Kumar, S.2
Gabow, P.A.3
Kenyon, J.B.4
Connolly, C.J.5
Somlo, S.6
-
9
-
-
0027452094
-
Localization of a second gene for autosomal dominant polycystic kidney disease on chromosome 4
-
Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkujil LA, Fossdal R, Boersma J, van Ejik R, Norby S, Constantinou-Deltas CD, Pierides A, Brissenden JE, Frants RR, van Ommen GJB, Breuning MH: Localization of a second gene for autosomal dominant polycystic kidney disease on chromosome 4. Nature Genet 5:359-362, 1993
-
(1993)
Nature Genet
, vol.5
, pp. 359-362
-
-
Peters, D.J.M.1
Spruit, L.2
Saris, J.J.3
Ravine, D.4
Sandkujil, L.A.5
Fossdal, R.6
Boersma, J.7
Van Ejik, R.8
Norby, S.9
Constantinou-Deltas, C.D.10
Pierides, A.11
Brissenden, J.E.12
Frants, R.R.13
Van Ommen, G.J.B.14
Breuning, M.H.15
-
10
-
-
0028932219
-
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
-
Daoust MC, Reynolds DM, Bichet DG, Somlo S: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736, 1995
-
(1995)
Genomics
, vol.25
, pp. 733-736
-
-
Daoust, M.C.1
Reynolds, D.M.2
Bichet, D.G.3
Somlo, S.4
-
11
-
-
0029042394
-
Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family
-
de Almeida S, de Almeida E, Peters D, Pinto JR, Tavora I, Lavinha J, Breuning M, Prata MM: Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family. Hum Genet 96:83-88, 1995
-
(1995)
Hum Genet
, vol.96
, pp. 83-88
-
-
De Almeida, S.1
De Almeida, E.2
Peters, D.3
Pinto, J.R.4
Tavora, I.5
Lavinha, J.6
Breuning, M.7
Prata, M.M.8
-
12
-
-
0029033563
-
Genetic heterogeneity of polycystic kidney disease in Bulgaria
-
Bogdanova N, Dworniczak B, Dragova D, Todorov V, Dimitrakov D, Kalinov K, Hallmayer J, Horst J, Kalaydijeva L: Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet 95:645-650, 1995
-
(1995)
Hum Genet
, vol.95
, pp. 645-650
-
-
Bogdanova, N.1
Dworniczak, B.2
Dragova, D.3
Todorov, V.4
Dimitrakov, D.5
Kalinov, K.6
Hallmayer, J.7
Horst, J.8
Kalaydijeva, L.9
-
13
-
-
0021324754
-
Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling
-
Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH, Churchill DN: Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling. Am J Med Genet 18:45-53, 1984
-
(1984)
Am J Med Genet
, vol.18
, pp. 45-53
-
-
Bear, J.C.1
McManamon, P.2
Morgan, J.3
Payne, R.H.4
Lewis, H.5
Gault, M.H.6
Churchill, D.N.7
-
14
-
-
0028519779
-
Rapid prenatal diagnosis of autosomal dominant polycystic kidney disease
-
Turco AE, Peissel B, Rossetti S, Pignatti PF: Rapid prenatal diagnosis of autosomal dominant polycystic kidney disease. Arch Pediatr Adolescent Med 148:1101-1102, 1994
-
(1994)
Arch Pediatr Adolescent Med
, vol.148
, pp. 1101-1102
-
-
Turco, A.E.1
Peissel, B.2
Rossetti, S.3
Pignatti, P.F.4
-
15
-
-
0029442833
-
Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes
-
Turco AE, Rossetti S, Peissel B, Gammaro L, Maschio G, Pignatti PF: Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes. Contrib Nephrol 115:88-92, 1995
-
(1995)
Contrib Nephrol
, vol.115
, pp. 88-92
-
-
Turco, A.E.1
Rossetti, S.2
Peissel, B.3
Gammaro, L.4
Maschio, G.5
Pignatti, P.F.6
-
16
-
-
0026652095
-
Isolation and characterization of (AC)n microsatellite genetic markers from human chromosome 16
-
Thompson AD, Shen Y, Holman K, Sutherland GR, Callen DF, Richards RI: Isolation and characterization of (AC)n microsatellite genetic markers from human chromosome 16. Genomics 13:402-408, 1992
-
(1992)
Genomics
, vol.13
, pp. 402-408
-
-
Thompson, A.D.1
Shen, Y.2
Holman, K.3
Sutherland, G.R.4
Callen, D.F.5
Richards, R.I.6
-
17
-
-
0025723450
-
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
-
Harris P, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, Lopez-Larrea C: Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 338:1484-1487, 1991
-
(1991)
Lancet
, vol.338
, pp. 1484-1487
-
-
Harris, P.1
Thomas, S.2
Ratcliffe, P.J.3
Breuning, M.H.4
Coto, E.5
Lopez-Larrea, C.6
-
18
-
-
0025275542
-
Rapid detection of polymorphism near gene for adult polycystic kidney disease
-
Saris JJ, Breuning MH, Dauwerse HG, Snijdewint FGM, Top B, Fodde R, van Ommen GJB: Rapid detection of polymorphism near gene for adult polycystic kidney disease. Lancet 1:1102-1103, 1990
-
(1990)
Lancet
, vol.1
, pp. 1102-1103
-
-
Saris, J.J.1
Breuning, M.H.2
Dauwerse, H.G.3
Snijdewint, F.G.M.4
Top, B.5
Fodde, R.6
Van Ommen, G.J.B.7
-
19
-
-
0027998919
-
Linkage disequilibrium in the region of autosomal dominant polycystic disease gene (PKD1)
-
Snarey A, Thomas S, Schneider MC, Pound SE, Barton N, Wright AF, Somplo S, Germino GG, Harris PC, Frischauf AM: Linkage disequilibrium in the region of autosomal dominant polycystic disease gene (PKD1). Am J Hum Genet 55:365-371, 1994
-
(1994)
Am J Hum Genet
, vol.55
, pp. 365-371
-
-
Snarey, A.1
Thomas, S.2
Schneider, M.C.3
Pound, S.E.4
Barton, N.5
Wright, A.F.6
Somplo, S.7
Germino, G.G.8
Harris, P.C.9
Frischauf, A.M.10
-
20
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop GM, Lalouel JM, Julier C, Ott J: Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446, 1984
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
21
-
-
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
-
22
-
-
0028795019
-
Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2
-
San Millan JL, Viribay M, Peral B, Martinez I, Weissenbach J, Moreno F: Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2. Am J Hum Genet 56:248-253, 1995
-
(1995)
Am J Hum Genet
, vol.56
, pp. 248-253
-
-
San Millan, J.L.1
Viribay, M.2
Peral, B.3
Martinez, I.4
Weissenbach, J.5
Moreno, F.6
-
23
-
-
0026478608
-
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease
-
Ravine D, Walker R, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffield LJ, Kincaid SP, Danks DM: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340:1300-1333, 1992
-
(1992)
Lancet
, vol.340
, pp. 1300-1333
-
-
Ravine, D.1
Walker, R.2
Gibson, R.N.3
Forrest, S.M.4
Richards, R.I.5
Friend, K.6
Sheffield, L.J.7
Kincaid, S.P.8
Danks, D.M.9
-
24
-
-
0344265220
-
A family with autosomal dominant polycystic kidney disease linked neither to PKD1 nor to PKD2
-
Leiden, The Netherlands, October 10-11
-
Bachner L, Vinet MC, Eckhart P, Kaplan JC: A family with autosomal dominant polycystic kidney disease linked neither to PKD1 nor to PKD2: Third International Workshop on Polycystic Kidney Disease, Leiden, The Netherlands, October 10-11, 1994
-
(1994)
Third International Workshop on Polycystic Kidney Disease
-
-
Bachner, L.1
Vinet, M.C.2
Eckhart, P.3
Kaplan, J.C.4
-
25
-
-
0026085706
-
Counselling under genetic heterogeneity: A practical approach
-
Narod S: Counselling under genetic heterogeneity: A practical approach. Clin Genet 39:125-131, 1991
-
(1991)
Clin Genet
, vol.39
, pp. 125-131
-
-
Narod, S.1
|