-
1
-
-
84924646510
-
Bilateral polycystic disease of the kidneys: A follow-up of two hundred and eighty four patients and their families
-
Dalgaard OZ. Bilateral polycystic disease of the kidneys: a follow-up of two hundred and eighty four patients and their families. Avta Med Scand 1957; 328: 1-255
-
(1957)
Avta Med Scand
, vol.328
, pp. 1-255
-
-
Dalgaard, O.Z.1
-
2
-
-
0018863523
-
Liver cysts in patients with autosomal dominant polycystic kidney disease
-
Milutinovic J, Fialkow PJ, Rudd TG, Agodoa LY, Phillips LA, Bryant JI. Liver cysts in patients with autosomal dominant polycystic kidney disease. Am J Med 1980; 68: 741-744
-
(1980)
Am J Med
, vol.68
, pp. 741-744
-
-
Milutinovic, J.1
Fialkow, P.J.2
Rudd, T.G.3
Agodoa, L.Y.4
Phillips, L.A.5
Bryant, J.I.6
-
3
-
-
0025247229
-
Autosomal dominant polycystic kidney disease: More than a renal disease
-
Gabow PA. Autosomal dominant polycystic kidney disease: more than a renal disease. Am J Kidney Dis 1990; 16: 403-413
-
(1990)
Am J Kidney Dis
, vol.16
, pp. 403-413
-
-
Gabow, P.A.1
-
4
-
-
0026743940
-
Intracranial aneurysms in autosomal dominant polycystic kidney disease
-
Chapman AB, Rubinstein D, Hughes R et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. N Engl J Med 1992; 327: 916-920
-
(1992)
N Engl J Med
, vol.327
, pp. 916-920
-
-
Chapman, A.B.1
Rubinstein, D.2
Hughes, R.3
-
5
-
-
0026488027
-
Autosomal dominant polycystic kidney disease and hypertension: A review
-
Breuning MH, Devoto M, Romeo G, eds. Karger, Basel
-
Florijn KW, Saase van JLCM, Breuning MH, Chang PC. Autosomal dominant polycystic kidney disease and hypertension: a review. In: Breuning MH, Devoto M, Romeo G, eds. Contributions to nephrology, Vol. 97. Polycystic kidney disease. Karger, Basel, 1992; 71-92
-
(1992)
Contributions to Nephrology, Vol. 97. Polycystic Kidney Disease
, vol.97
, pp. 71-92
-
-
Florijn, K.W.1
Van Saase, J.L.C.M.2
Breuning, M.H.3
Chang, P.C.4
-
6
-
-
0026466656
-
Genetic heterogeneity of polycystic kidney disease in Europe
-
Breuning MH, Devoto M, Romeo G, eds. Karger, Basel
-
Peters DJM, Sandkuijl LA. Genetic heterogeneity of polycystic kidney disease in Europe. In: Breuning MH, Devoto M, Romeo G, eds. Contributions to nephrology. Vol. 97. Polycystic kidney disease. Karger, Basel, 1992; 128-139
-
(1992)
Contributions to Nephrology. Vol. 97. Polycystic Kidney Disease
, vol.97
, pp. 128-139
-
-
Peters, D.J.M.1
Sandkuijl, L.A.2
-
7
-
-
0028278058
-
The polycystic kidney disease I gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
-
The European Polycystic Kidney Disease Consortium. The polycystic kidney disease I gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 1994; 77: 881-894
-
(1994)
Cell
, vol.77
, pp. 881-894
-
-
-
8
-
-
0029069583
-
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
-
Hughes J, Ward CJ, Peral B et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet 1995; 10: 151-159
-
(1995)
Nature Genet
, vol.10
, pp. 151-159
-
-
Hughes, J.1
Ward, C.J.2
Peral, B.3
-
9
-
-
0028942745
-
Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat
-
The 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 1995; 4: 575-582
-
(1995)
Hum Mol Genet
, vol.4
, pp. 575-582
-
-
-
10
-
-
0029002967
-
Polycystic kidney disease: The complete structure of the pkdl gene and its protein
-
The International Polycystic Kidney Disease Consortium. Polycystic kidney disease: the complete structure of the pkdl gene and its protein. Cell 1995; 81: 289-298
-
(1995)
Cell
, vol.81
, pp. 289-298
-
-
-
11
-
-
0028938064
-
Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
-
Peral B, Gamble V, San Millan JL et al. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 1995 4: 569-574
-
(1995)
Hum Mol Genet
, vol.4
, pp. 569-574
-
-
Peral, B.1
Gamble, V.2
San Millan, J.L.3
-
12
-
-
12644263738
-
The long walk toward the PKD1 gene
-
Grunfeld JP, ed. Mosby Year Book, St Louis, MO
-
Roelfsema JH, Breuning MH, The European Polycystic Kidney Disease Consortium. The long walk toward the PKD1 gene. In: Grunfeld JP, ed. Advances in nephrology. Vol. 25. Mosby Year Book, St Louis, MO, 1995
-
(1995)
Advances in Nephrology
, vol.25
-
-
Roelfsema, J.H.1
Breuning, M.H.2
-
13
-
-
0029149637
-
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
-
Turco AE, Rosetti S, Bresin E et al. A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet 1995; 4: 1331-1335
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1331-1335
-
-
Turco, A.E.1
Rosetti, S.2
Bresin, E.3
-
14
-
-
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. Genomici 1993; 18: 467-472
-
(1993)
Genomici
, 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
-
15
-
-
0027452094
-
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
-
Peters DJM, Spruit L, Saris JJ et al. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nature Genet 1993; 5: 359-362
-
(1993)
Nature Genet
, vol.5
, pp. 359-362
-
-
Peters, D.J.M.1
Spruit, L.2
Saris, J.J.3
-
16
-
-
0029033563
-
Genetic heterogeneity of polycystic kidney disease in Bulgaria
-
Bogdanova N, Dworniczak B, Dragova D et al. Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum Genet 1995; 95: 645-650
-
(1995)
Hum Genet
, vol.95
, pp. 645-650
-
-
Bogdanova, N.1
Dworniczak, B.2
Dragova, D.3
-
17
-
-
0028918961
-
Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
-
Constantinou-Deltas CD, Papageorgiou E, Boteva K et al. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families. Hum Genet 1995; 95: 416-423
-
(1995)
Hum Genet
, vol.95
, pp. 416-423
-
-
Constantinou-Deltas, C.D.1
Papageorgiou, E.2
Boteva, K.3
-
18
-
-
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 1995; 56: 248-253
-
(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
-
19
-
-
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 DJM et al. Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 1995; 96: 83-88
-
(1995)
Hum Genet
, vol.96
, pp. 83-88
-
-
De Almeida, S.1
De Almeida, E.2
Peters, D.J.M.3
-
20
-
-
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 1995; 25: 733-736
-
(1995)
Genomics
, vol.25
, pp. 733-736
-
-
Daoust, M.C.1
Reynolds, D.M.2
Bichet, D.G.3
Somlo, S.4
-
21
-
-
0025095857
-
The diagnosis and prognosis of autosomal dominant polycystic kidney disease
-
Parfrey PS, Bear JC, Morgan J et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 1990; 323: 1085-1090
-
(1990)
N Engl J Med
, vol.323
, pp. 1085-1090
-
-
Parfrey, P.S.1
Bear, J.C.2
Morgan, J.3
-
22
-
-
0026654117
-
Autosomal dominant polycystic kidney disease: New information for genetic counselling
-
Bear JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC. Autosomal dominant polycystic kidney disease: new information for genetic counselling. Am J Med Genet 1992; 43: 548-553
-
(1992)
Am J Med Genet
, vol.43
, pp. 548-553
-
-
Bear, J.C.1
Parfrey, P.S.2
Morgan, J.M.3
Martin, C.J.4
Cramer, B.C.5
-
23
-
-
0026563828
-
Factors affecting the progression of renal disease in autosomal dominant polycystic kidney disease
-
Gabow PA, Johnson AM, Kaehny WD et al. Factors affecting the progression of renal disease in autosomal dominant polycystic kidney disease. Kidney Int 1992; 41: 1311-1319
-
(1992)
Kidney Int
, vol.41
, pp. 1311-1319
-
-
Gabow, P.A.1
Johnson, A.M.2
Kaehny, W.D.3
-
24
-
-
0026478608
-
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease
-
Ravine D, Walker RG, Gibson RN et al. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 1992; 340: 1330-1333
-
(1992)
Lancet
, vol.340
, pp. 1330-1333
-
-
Ravine, D.1
Walker, R.G.2
Gibson, R.N.3
-
26
-
-
0021324754
-
Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counseling
-
Bear JC, McManamon P, Morgan J et al. Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counseling. Am J Med Genet 1984; 18: 45-53
-
(1984)
Am J Med Genet
, vol.18
, pp. 45-53
-
-
Bear, J.C.1
McManamon, P.2
Morgan, J.3
-
27
-
-
0022410264
-
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
-
Reeders ST, Breuning MH, Davies KE et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985; 317: 542-544
-
(1985)
Nature
, vol.317
, pp. 542-544
-
-
Reeders, S.T.1
Breuning, M.H.2
Davies, K.E.3
-
28
-
-
0023727821
-
Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]
-
Wolff E, Nakamura Y, Connell PO et al Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]. Nucleic Acids Res 1988; 16: 9885
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 9885
-
-
Wolff, E.1
Nakamura, Y.2
Connell, P.O.3
-
29
-
-
0025322548
-
Identification of a locus which shows no genetic recombination with the autosomal polycystic kidney disease gene on chromosome 16
-
Germino GG, Barton NJ, Lamb J et al. Identification of a locus which shows no genetic recombination with the autosomal polycystic kidney disease gene on chromosome 16. Am J Hum Genet 1990; 46: 925-933
-
(1990)
Am J Hum Genet
, vol.46
, pp. 925-933
-
-
Germino, G.G.1
Barton, N.J.2
Lamb, J.3
-
30
-
-
0025345794
-
A TaqI polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16
-
Breuning MH, Snijdewint FGM, Smits JR, Dauwerse JG, Saris JJ, Van Ommen G-JB. A TaqI polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16. Nucleic Acids Res 1990; 18: 3106
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3106
-
-
Breuning, M.H.1
Snijdewint, F.G.M.2
Smits, J.R.3
Dauwerse, J.G.4
Saris, J.J.5
Van Ommen, G.-J.B.6
-
31
-
-
0025275542
-
Rapid detection of a new polymorphism near the gene for adult polycystic kidney disease
-
Saris JJ, Breuning MH, Dauwerse JG et al. Rapid detection of a new polymorphism near the gene for adult polycystic kidney disease. Lancet 1990; i: 1102-1103
-
(1990)
Lancet
, vol.1
, pp. 1102-1103
-
-
Saris, J.J.1
Breuning, M.H.2
Dauwerse, J.G.3
-
32
-
-
0025289956
-
Probe 218EP6 (D16S246) detects RFLP's close to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16
-
Snijdewint FGM, Saris JJ, Dauwerse JG, Breuning MH, Van Ommen G-JB. Probe 218EP6 (D16S246) detects RFLP's close to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16. Nucleic Acids Res 1990; 18: 3108
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3108
-
-
Snijdewint, F.G.M.1
Saris, J.J.2
Dauwerse, J.G.3
Breuning, M.H.4
Van Ommen, G.-J.B.5
-
33
-
-
0344138598
-
A linkage map of chromosome 16 with 41 RFLP markers
-
Abstract
-
Keith T, Green P, Reeders ST et al. A linkage map of chromosome 16 with 41 RFLP markers. Cylogenet Cell Genet 1988; 46: 638 (Abstract)
-
(1988)
Cylogenet Cell Genet
, vol.46
, pp. 638
-
-
Keith, T.1
Green, P.2
Reeders, S.T.3
-
34
-
-
0026488516
-
Genetic and pysical maps of human chromosome 4 based on dinucleotide repeats
-
Mills KA, Buetow KH, Xu Y et al. Genetic and pysical maps of human chromosome 4 based on dinucleotide repeats. Genomics 1992; 14: 209-219
-
(1992)
Genomics
, vol.14
, pp. 209-219
-
-
Mills, K.A.1
Buetow, K.H.2
Xu, Y.3
-
35
-
-
0028231090
-
The 1993-94 G'n'thon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A el al. The 1993-94 G'n'thon human genetic linkage map. Nature Genet 1994; 7: 246-249
-
(1994)
Nature Genet
, vol.7
, pp. 246-249
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
-
36
-
-
0023175958
-
Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure
-
Ryynanen MA, Dolata MM, Lamainen E, Reeders ST. Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure. J Med Genet 1987; 24: 462-465
-
(1987)
J Med Genet
, vol.24
, pp. 462-465
-
-
Ryynanen, M.A.1
Dolata, M.M.2
Lamainen, E.3
Reeders, S.T.4
-
37
-
-
0028952609
-
A century of mortality in five large families with polycystic kidney disease
-
Florijn KW, Noteboom WPM, van Saasse JLCM, Chang PC, Breuning MH, Vandenbroucke JP. A century of mortality in five large families with polycystic kidney disease. Am J Kidney Dis 1995; 25: 370-374
-
(1995)
Am J Kidney Dis
, vol.25
, pp. 370-374
-
-
Florijn, K.W.1
Noteboom, W.P.M.2
Van Saasse, J.L.C.M.3
Chang, P.C.4
Breuning, M.H.5
Vandenbroucke, J.P.6
|