-
1
-
-
0020560448
-
Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980
-
Iglesias CG, Torres VE, Offord KP, Holley KE, Beard CM, Kurland LT (1983) Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980. Am J Kidney Dis 2:630-639
-
(1983)
Am J Kidney Dis
, vol.2
, pp. 630-639
-
-
Iglesias, C.G.1
Torres, V.E.2
Offord, K.P.3
Holley, K.E.4
Beard, C.M.5
Kurland, L.T.6
-
2
-
-
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 (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542-544
-
(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
-
3
-
-
0023511489
-
Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers
-
Breuning MH, Reeders ST, Brunner H, Ijdo JW, Saris JJ, Verwest A, van Ommen GJ, Pearson PL (1987) Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet 2:1359-1361
-
(1987)
Lancet
, vol.2
, pp. 1359-1361
-
-
Breuning, M.H.1
Reeders, S.T.2
Brunner, H.3
Ijdo, J.W.4
Saris, J.J.5
Verwest, A.6
Van Ommen, G.J.7
Pearson, P.L.8
-
4
-
-
0023784181
-
Linkage heterogeneity of autosomal dominant polycystic kidney disease
-
Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E, Gabow PA (1988) Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med 319:913-918
-
(1988)
N Engl J Med
, vol.319
, pp. 913-918
-
-
Kimberling, W.J.1
Fain, P.R.2
Kenyon, J.B.3
Goldgar, D.4
Sujansky, E.5
Gabow, P.A.6
-
5
-
-
0027503203
-
A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families
-
Wright AF, Teague PW, Pound SE, Pignatelli PM, Macnicol AM, Carothers AD, De Mey RJ, Allan PL, Watson ML (1993) A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families. Hum Genet 90:569-571
-
(1993)
Hum Genet
, vol.90
, pp. 569-571
-
-
Wright, A.F.1
Teague, P.W.2
Pound, S.E.3
Pignatelli, P.M.4
Macnicol, A.M.5
Carothers, A.D.6
De Mey, R.J.7
Allan, P.L.8
Watson, M.L.9
-
6
-
-
0026466656
-
Genetic heterogeneity of polycystic kidney disease in Europe
-
Peters DJ, Sandkuijl LA (1992) Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol 97:128-139
-
(1992)
Contrib Nephrol
, vol.97
, pp. 128-139
-
-
Peters, D.J.1
Sandkuijl, L.A.2
-
7
-
-
0032802914
-
Molecular basis of autosomal dominant polycystic kidney disease
-
Watnick T, Germino GG (1999) Molecular basis of autosomal dominant polycystic kidney disease. Semin Nephrol 19:327-343
-
(1999)
Semin Nephrol
, vol.19
, pp. 327-343
-
-
Watnick, T.1
Germino, G.G.2
-
8
-
-
0027452094
-
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
-
Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al (1993) Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 5:359-362
-
(1993)
Nat Genet
, vol.5
, pp. 359-362
-
-
Peters, D.J.1
Spruit, L.2
Saris, J.J.3
Ravine, D.4
Sandkuijl, L.A.5
Fossdal, R.6
Boersma, J.7
Van Eijk, R.8
Norby, S.9
Constantinou-Deltas, C.D.10
-
9
-
-
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 (1993) Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 18:467-472
-
(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
-
10
-
-
0035720040
-
Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1
-
Lumiaho A, Ikäheimo R, Miettinen R, Niemitukia L, Laitinen T, Rantala A, Lampainen E, Laakso M, Hartikainen J (2001) Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1. Am J Kidney Dis 38: 1208-1216
-
(2001)
Am J Kidney Dis
, vol.38
, pp. 1208-1216
-
-
Lumiaho, A.1
Ikäheimo, R.2
Miettinen, R.3
Niemitukia, L.4
Laitinen, T.5
Rantala, A.6
Lampainen, E.7
Laakso, M.8
Hartikainen, J.9
-
11
-
-
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 (1984) 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)
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
-
12
-
-
10744231180
-
Progression of kidney disease varies between families with defects in the polycystic kidney disease type 1 gene in eastern Finland
-
Lumiaho A, Ikäheimo R, Pihlajamäki J, Miettinen R, Niemitukia L, Vanninen R, Lampainen E, Laakso M (2003) Progression of kidney disease varies between families with defects in the polycystic kidney disease type 1 gene in eastern Finland. Scand J Urol Nephrol 37:352-358
-
(2003)
Scand J Urol Nephrol
, vol.37
, pp. 352-358
-
-
Lumiaho, A.1
Ikäheimo, R.2
Pihlajamäki, J.3
Miettinen, R.4
Niemitukia, L.5
Vanninen, R.6
Lampainen, E.7
Laakso, M.8
-
13
-
-
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 (1995) 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)
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
-
14
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-94 Genethon human genetic linkage map. Nat Genet 7:246-339
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
15
-
-
0028297233
-
Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population
-
Peral B, Ward CJ, San Millan JL, Thomas S, Stallings RL, Moreno F, Harris PC (1994) Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet 54:899-908
-
(1994)
Am J Hum Genet
, vol.54
, pp. 899-908
-
-
Peral, B.1
Ward, C.J.2
San Millan, J.L.3
Thomas, S.4
Stallings, R.L.5
Moreno, F.6
Harris, P.C.7
-
16
-
-
0029819145
-
Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families
-
Deltas CC, Christodoulou K, Tjakouri C, Pierides A (1996) Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families. Clin Genet 50:10-18
-
(1996)
Clin Genet
, vol.50
, pp. 10-18
-
-
Deltas, C.C.1
Christodoulou, K.2
Tjakouri, C.3
Pierides, A.4
-
17
-
-
0035028683
-
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples
-
Phakdeekitcharoen B, Watnick TJ, Germino GG (2001) Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol 12:955-963
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 955-963
-
-
Phakdeekitcharoen, B.1
Watnick, T.J.2
Germino, G.G.3
-
18
-
-
0033365404
-
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR
-
Thomas R, McConnell R, Whittacker J, Kirkpatrick P, Bradley J, Sandford R (1999) Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. Am J Hum Genet 65:39-49
-
(1999)
Am J Hum Genet
, vol.65
, pp. 39-49
-
-
Thomas, R.1
McConnell, R.2
Whittacker, J.3
Kirkpatrick, P.4
Bradley, J.5
Sandford, R.6
-
19
-
-
0031571637
-
Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)
-
Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S (1997) Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44:131-136
-
(1997)
Genomics
, vol.44
, pp. 131-136
-
-
Hayashi, T.1
Mochizuki, T.2
Reynolds, D.M.3
Wu, G.4
Cai, Y.5
Somlo, S.6
-
20
-
-
0032871806
-
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients
-
Perrichot RA, Mercier B, Simon PM, Whebe B, Cledes J, Ferec C (1999) DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. Hum Genet 105:231-239
-
(1999)
Hum Genet
, vol.105
, pp. 231-239
-
-
Perrichot, R.A.1
Mercier, B.2
Simon, P.M.3
Whebe, B.4
Cledes, J.5
Ferec, C.6
-
21
-
-
0030978851
-
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
-
Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC (1997) Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet 60:1399-1410
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1399-1410
-
-
Peral, B.1
Gamble, V.2
Strong, C.3
Ong, A.C.4
Sloane-Stanley, J.5
Zerres, K.6
Winearls, C.G.7
Harris, P.C.8
-
22
-
-
0034949826
-
Mutations of the human polycystic kidney disease 2 (PKD2) gene
-
Deltas CC (2001) Mutations of the human polycystic kidney disease 2 (PKD2) gene. Human Mutat 18:13-24
-
(2001)
Human Mutat
, vol.18
, pp. 13-24
-
-
Deltas, C.C.1
-
23
-
-
0033802011
-
Thirteen novel mutations of the replicated region of PKD1 in an Asian population
-
Phakdeekitcharoen B, Watnick TJ, Ahn C, Whang DY, Burkhart B, Germino GG (2000) Thirteen novel mutations of the replicated region of PKD1 in an Asian population. Kidney Int 58:1400-1412
-
(2000)
Kidney Int
, vol.58
, pp. 1400-1412
-
-
Phakdeekitcharoen, B.1
Watnick, T.J.2
Ahn, C.3
Whang, D.Y.4
Burkhart, B.5
Germino, G.G.6
-
24
-
-
0034119359
-
Novel mutations in the duplicated region of PKD1 gene
-
Perrichot R, Mercier B, Quere I, Carre A, Simon P, Whebe B, Cledes J, Ferec C (2000) Novel mutations in the duplicated region of PKD1 gene. Eur J Hum Genet 8:353-359
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 353-359
-
-
Perrichot, R.1
Mercier, B.2
Quere, I.3
Carre, A.4
Simon, P.5
Whebe, B.6
Cledes, J.7
Ferec, C.8
-
25
-
-
0036239770
-
A complete mutation screen of the ADPKD genes by DHPLC
-
Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE, Harris PC (2002) A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int 61:1588-1599
-
(2002)
Kidney Int
, vol.61
, pp. 1588-1599
-
-
Rossetti, S.1
Chauveau, D.2
Walker, D.3
Saggar-Malik, A.4
Winearls, C.G.5
Torres, V.E.6
Harris, P.C.7
-
26
-
-
18344395119
-
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease
-
Rossetti S, Burton S, Strmecki L, Pond GR, San Millan JL, Zerres K, Barratt TM, Ozen S, Torres VE, Bergstralh EJ, Winearls CG, Harris PC (2002) The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol 13:1230-1237
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 1230-1237
-
-
Rossetti, S.1
Burton, S.2
Strmecki, L.3
Pond, G.R.4
San Millan, J.L.5
Zerres, K.6
Barratt, T.M.7
Ozen, S.8
Torres, V.E.9
Bergstralh, E.J.10
Winearls, C.G.11
Harris, P.C.12
-
27
-
-
0034595501
-
Enhanced genome annotation using structural profiles in the program 3D-PSSM
-
Kelley LA, MacCallum RM, Sternberg MJ (2000) Enhanced genome annotation using structural profiles in the program 3D-PSSM. J Mol Biol 299:499-520
-
(2000)
J Mol Biol
, vol.299
, pp. 499-520
-
-
Kelley, L.A.1
MacCallum, R.M.2
Sternberg, M.J.3
-
28
-
-
0036139004
-
Management of cerebral aneurysms in autosomal dominant polycystic kidney disease
-
Pirson Y, Chauveau D, Torres V (2002) Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 13:269-276
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 269-276
-
-
Pirson, Y.1
Chauveau, D.2
Torres, V.3
|