1 |
Mochizuki T, Wu G; Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Constantinou Deltas CD, Peters DJM, and Somlo S (1996) PKD2, a gene for polycystic kidney disease that encodes an integml membrane protein. Science 272: 1339-1342
DOI
ScienceOn
|
2 |
Norby S, Sorensen AW, and Boesen P (1989) Non-allelic genetic heterogeneity of autosomal dominant polycystic kidney disease? Prog Clin Biol Res 305: 83-88
|
3 |
Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Churchill DN, Singh M, Hewitt R, Somlo S, and Reeders ST (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease. New Eng J Med 323: 1085-1090
DOI
ScienceOn
|
4 |
Bear JC, Parfrey PS, Morgan JM, Martin CJ, and Cramer BC (1992) Autosomal dominant polycystic kidney disease: new information for genetic counselling. Am J Med Genet 43: 548-553
DOI
ScienceOn
|
5 |
Bostein D, White RL, Skolnick M, and Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32: 314-331
|
6 |
Hyland VJ, Suther GK, Friend K, MacKinnon RN, Callen DF, Breuning MH, Keith T, Brown VA, Phipps P, and Sutherland GR (1990) Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1.Hum Genet 84: 286-288
DOI
|
7 |
Lahiri DK, and Nurnberger JI (1991) A rapid non-enzymatic method for the preparation of DNA from blood for RFLP studies. Nucleic Acids Res 19: 544
DOI
ScienceOn
|
8 |
Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E, Gabow PA (1988) Linkage heterogeneity of autosomal dominant polycystic kidney disease. New Eng J Med 319: 913-918
DOI
ScienceOn
|
9 |
Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GAJ, Somlo S, Wirth B, Barton N, Harris KL, Frischauf AM, and Reeders ST (1992) The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 13: 144-151
DOI
|
10 |
Harris PC, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, and Lopez-Larrea C (1991) Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 338: 1484-1487
DOI
ScienceOn
|
11 |
Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, lezotte DC, Duley IT, and Jones RH (1992) Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 41: 1311-1319
DOI
ScienceOn
|
12 |
Somlo S, Wirth B, Germino GG, Weinstat-Saslow D, Gillespie GAJ, Himmelbauer H, Steevens L, Coucke P, Willems P, Bachner L, Coto E, Lopez-Larrea C, Peral B, San Millan JL, Saris JJ, Breuning MH, Frischauf AM, and Reeders ST (1992) Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers. Genomics 13: 152-158
DOI
|
13 |
Germino GG, Barton NJ, Lamb J, Higgs DR, Harris P, Xiao GH, Scherer G, Nakamura Y, and Reeders ST (1990) Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet 46: 925-933
|
14 |
de Almeida S, de Ahneida E, Peters DJM, Pinto JR, Tavom I, Lavinha J, Breuning MH, and Prata MM (1995) Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 96: 83-88
DOI
|
15 |
European Polycystic Kidney Disease Consortium (1994) The polycystic kidney disease 1 gene encodes a 14-kb transcript and lies within a duplicated region on chromosome 16. Cell 77: 881-894
DOI
ScienceOn
|
16 |
Daoust MC, Reynolds DM, Bichet DG, and Somlo S (1995) Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25: 733-736
DOI
ScienceOn
|
17 |
Breuning MH, Snijdewint FGM, Brunner H, Verwest A, Ijdo JW, Saris JJ, Dauwerse JG, Blonden L, Keith T, Callen DF, Hyland VJ, Xiao GH, Scherer G, Higgs DR, Harris P, Bachner L, Reeders ST, Germino G, Pearson PL, and van Ommen GJB (1990) Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKDl). J Med Genet 27: 603-613
DOI
|
18 |
Weissenbach J, Gyapay G; Dib C, Vignal A, morissette J, Millasseau P, Vaysseix G; and Lathrop M (1992) A second-generation linkage map of the human genome. Nature 359: 794-801
DOI
ScienceOn
|
19 |
Wolff E, Nakamura Y, O'Connell P, Leppert M, Lathrop GM, Lalouel JM, and White R (1988) Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]. Nucleic Acids Res 16: 9885
DOI
|
20 |
Saiki RK, Walsh PS, Levenson CH, and Erlich HA (1989) Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 86: 6230-6234
DOI
ScienceOn
|
21 |
Risch N (1990) Linkage strategies for genetically complex traits. III: The effect of marker polymorphism on analysis of affected relative pairs. Am J Hum Genet 46: 242-253
|
22 |
Romeo G, Devoto M, Costa G, Roncuzzi L, Catizone L, Zucchelli P, Germino GO, Keith T, Weatherall DJ, and Reeders ST (1988) A second genetic locus for autosomal dominant polycystic kidney disease. Lancet 335: 8-11
DOI
ScienceOn
|
23 |
Peters DJM, and Sandkuijl LA (1992) Polycystic Kidney Disease. In: Breuning MH, Devoto M, and Romeo G (eds). Contributions to Nephrology 97. Karger, Bawel, pp. 128-139
|
24 |
Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, and Danks DM (1994) Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 343: 824-827
DOI
ScienceOn
|
25 |
Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearso PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317: 542-544
DOI
ScienceOn
|
26 |
Peral B, Ward CJ, Millan JLS, Thomas S, Stallings RL, Moreno F, and Harris PC (1994) Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. Am J Hum Genet 154: 899-908
|
27 |
Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffied LJ, Kincaid-Smith P, and Danks DM (1992) Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340: 1330-1333
DOI
ScienceOn
|