-
1
-
-
0026678490
-
Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M., and Belmont, J. W. (1992). Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51, 1229-1239.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
2
-
-
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 (1995). Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. Hum. Mol. Gen. 4, 575-582.
-
(1995)
Hum. Mol. Gen.
, vol.4
, pp. 575-582
-
-
-
3
-
-
0015123650
-
Polycystic disease of kidney and liver presenting in childhood
-
Blyth, H., and Ockenden, B.G. (1971). Polycystic disease of kidney and liver presenting in childhood. J. Med. Genet. 8, 257-284.
-
(1971)
J. Med. Genet.
, vol.8
, pp. 257-284
-
-
Blyth, H.1
Ockenden, B.G.2
-
4
-
-
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., and Kalaydjieva, L. (1995). Genetic heterogeneity of polycystic kidney disease in Bulgaria. Hum. Genet. 95, 645-650.
-
(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
Kalaydjieva, L.9
-
5
-
-
0028932219
-
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
-
Daoust, M.C., Reynolds, D.M., Bichet, D.G., and Somlo, S. (1995). Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 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
-
6
-
-
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, J.R., Tavora, I., Lavinha, J., Breuning, M., and Prata, M.M. (1995). Autosomal dominant polycystic kidney disease-evidence for the existence of a third locus in a Portuguese family. Hum. Genet. 96, 83-88.
-
(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
-
7
-
-
0028278058
-
The polycystic kidney disease gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
-
The European Polycystic Kidney Disease Consortium (1994). The polycystic kidney disease gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77, 881-894.
-
(1994)
Cell
, vol.77
, pp. 881-894
-
-
-
8
-
-
0002261284
-
Cyst cells and cyst walls
-
K.D. Gardner and J. Bernstein, eds. (London: Kluwer Academic Publishers)
-
Evan, A.P., and McAteer, J.A. (1992). Cyst cells and cyst walls. In The Cystic Kidney, K.D. Gardner and J. Bernstein, eds. (London: Kluwer Academic Publishers), pp. 21-41.
-
(1992)
The Cystic Kidney
, pp. 21-41
-
-
Evan, A.P.1
McAteer, J.A.2
-
9
-
-
0023261211
-
Clonal analysis of human colorectal tumors
-
Fearon, E.R., Hamilton, S.R., and Vogelstein, B. (1987). Clonal analysis of human colorectal tumors. Science 238, 193-197.
-
(1987)
Science
, vol.238
, pp. 193-197
-
-
Fearon, E.R.1
Hamilton, S.R.2
Vogelstein, B.3
-
10
-
-
0027619701
-
Characteristics of very early onset autosomal dominant polycystic kidney disease
-
Fick, G.M., Johnson, A.M., Strain, J.D., Kimberling, W.J., Kumar, S., Manco-Johnson, M.L., Duley, I.T., and Gabow, P.A. (1993). Characteristics of very early onset autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 3, 1863-1870.
-
(1993)
J. Am. Soc. Nephrol.
, vol.3
, pp. 1863-1870
-
-
Fick, G.M.1
Johnson, A.M.2
Strain, J.D.3
Kimberling, W.J.4
Kumar, S.5
Manco-Johnson, M.L.6
Duley, I.T.7
Gabow, P.A.8
-
11
-
-
0027981726
-
Is there evidence for anticipation in autosomal-dominant polycystic kidney diesease?
-
Fick, G.M., Johnson, A.M., and Gabow, P.A. (1994). Is there evidence for anticipation in autosomal-dominant polycystic kidney diesease? Kidney Int. 45, 1153-1162.
-
(1994)
Kidney Int.
, vol.45
, pp. 1153-1162
-
-
Fick, G.M.1
Johnson, A.M.2
Gabow, P.A.3
-
12
-
-
0028587585
-
Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma
-
Foster, K., Prowse, A., van den Berg, A., Fleming, S., Hulsbeek, M. M., Crossey, P.A., Richards, F.M., Cairns, P., Affara, N.A., Ferguson-Smith, M.A., et al. (1994). Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum. Mol. Genet. 3, 2169-2173.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2169-2173
-
-
Foster, K.1
Prowse, A.2
Van Den Berg, A.3
Fleming, S.4
Hulsbeek, M.M.5
Crossey, P.A.6
Richards, F.M.7
Cairns, P.8
Affara, N.A.9
Ferguson-Smith, M.A.10
-
13
-
-
0027925829
-
Autosomal dominant polycystic kidney disease
-
Gabow, P.A (1993). Autosomal dominant polycystic kidney disease. N. Engl. J. Med. 329, 332-342.
-
(1993)
N. Engl. J. Med.
, vol.329
, pp. 332-342
-
-
Gabow, P.A.1
-
14
-
-
0026075627
-
Clonality in myeloproliferative disorders: Analysis by means of the polymerase chain reaction
-
Gilliland, D.G., Blanchard, K.L., Levy, J., Perrin, S., and Bunn, H.F. (1991). Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction. Proc. Natl. Acad. Sci. USA 88, 6848-6852.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 6848-6852
-
-
Gilliland, D.G.1
Blanchard, K.L.2
Levy, J.3
Perrin, S.4
Bunn, H.F.5
-
15
-
-
0018647642
-
Toad urinary bladder epithelial cells in culture: Maintenance of epithelial structure, sodium transport and reponse to hormones
-
Handler, J.S., Steele, R.E., Sahib, M.K., Wade, J.B., Preston, A.S., Lawson, N.L., and Johnson, J.P. (1979). Toad urinary bladder epithelial cells in culture: maintenance of epithelial structure, sodium transport and reponse to hormones. Proc. Natl. Acad. Sci. USA 76, 4151-4155.
-
(1979)
Proc. Natl. Acad. Sci. USA
, vol.76
, pp. 4151-4155
-
-
Handler, J.S.1
Steele, R.E.2
Sahib, M.K.3
Wade, J.B.4
Preston, A.S.5
Lawson, N.L.6
Johnson, J.P.7
-
16
-
-
0025828557
-
Evidence for WT1 as a Wilms tumor (WT) gene: Intragenic germinal deletion in bilateral WT
-
Huff, V., Miwa, H., Haber, D.A., Call, K.M., Housman, D., Strong, L. C., and Saunders, G. F. (1991). Evidence for WT1 as a Wilms tumor (WT) gene: intragenic germinal deletion in bilateral WT. Am. J. Hum. Genet. 48, 997-1003.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 997-1003
-
-
Huff, V.1
Miwa, H.2
Haber, D.A.3
Call, K.M.4
Housman, D.5
Strong, L.C.6
Saunders, G.F.7
-
17
-
-
0029069583
-
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
-
Hughes, J., Ward, C.J., Peral, B., Aspinwall, R., Clark, K., San Millán, J.L., Gamble, V., and Harris, P.C. (1995). The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet. 10, 151-160.
-
(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 Millán, J.L.6
Gamble, V.7
Harris, P.C.8
-
18
-
-
0028917291
-
Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity
-
Iakoubova, O.A., Dushkin, H., and Beier, D.R. (1995). Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity. Genomics 26, 107-114.
-
(1995)
Genomics
, vol.26
, pp. 107-114
-
-
Iakoubova, O.A.1
Dushkin, H.2
Beier, D.R.3
-
19
-
-
0029002967
-
Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
-
The International Polycystic Kidney Disease Consortium (1995). Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 81, 289-298.
-
(1995)
Cell
, vol.81
, pp. 289-298
-
-
-
20
-
-
0023215204
-
Polycystic kidney disease in children: A genetic and epidemiological study of 82 Finnish patients
-
Kaariainen, H. (1987). Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients. J. Med. Genet. 24, 474-481.
-
(1987)
J. Med. Genet.
, vol.24
, pp. 474-481
-
-
Kaariainen, H.1
-
21
-
-
0027767585
-
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23
-
Kimberling, W.J., Kumar, S., Gabow, P.A., Kenyon, J.B., Connolly, C.J., and 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
-
22
-
-
15844385078
-
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
-
Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S.L., Veldhuisen, B., Saris, J.J., Reynolds, D.M., Cai, Y., Gabow, P.A., Pierides, A., et al. (1996). PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272, 1339-1342.
-
(1996)
Science
, vol.272
, pp. 1339-1342
-
-
Mochizuki, T.1
Wu, G.2
Hayashi, T.3
Xenophontos, S.L.4
Veldhuisen, B.5
Saris, J.J.6
Reynolds, D.M.7
Cai, Y.8
Gabow, P.A.9
Pierides, A.10
-
23
-
-
0026085706
-
Counselling under genetic heterogeneity: A practical approach
-
Narod, S. (1991). Counselling under genetic heterogeneity: a practical approach. Clin. Genet. 39, 125-131.
-
(1991)
Clin. Genet.
, vol.39
, pp. 125-131
-
-
Narod, S.1
-
24
-
-
0028938064
-
Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
-
Peral, B., Gamble, V., San Millán, J.L., Strong, C. Sloane-Stanley, J., Moreno, F., and Harris, P.C. (1995). Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum. Mol. Gen. 4, 569-574.
-
(1995)
Hum. Mol. Gen.
, vol.4
, pp. 569-574
-
-
Peral, B.1
Gamble, V.2
San Millán, J.L.3
Strong, C.4
Sloane-Stanley, J.5
Moreno, F.6
Harris, P.C.7
-
25
-
-
0029655664
-
Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
-
Peral, B., San Millán, J.L., Ong, A.C., Gamble, V., Ward, C.J., Strong, C., and Harris, P.C. (1996a). Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am. J. Hum. Genet. 58, 86-96.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 86-96
-
-
Peral, B.1
San Millán, J.L.2
Ong, A.C.3
Gamble, V.4
Ward, C.J.5
Strong, C.6
Harris, P.C.7
-
26
-
-
0029929998
-
A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)
-
Peral, B., Ong, A.C.M., San Millán, J.L., Gamble, V., Rees, L., and Harris, P.C. (1996b). A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum. Mol. Gen. 5, 539-542.
-
(1996)
Hum. Mol. Gen.
, vol.5
, pp. 539-542
-
-
Peral, B.1
Ong, A.C.M.2
San Millán, J.L.3
Gamble, V.4
Rees, L.5
Harris, P.C.6
-
27
-
-
0026466656
-
Genetic heterogeneity of polycystic kidney in Europe
-
Peters, D.J.M., and Sandkuijl, L.A. (1992). Genetic heterogeneity of polycystic kidney in Europe. Contrib. Nephrol. 97, 128-139.
-
(1992)
Contrib. Nephrol.
, vol.97
, pp. 128-139
-
-
Peters, D.J.M.1
Sandkuijl, L.A.2
-
28
-
-
0027452094
-
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
-
Peters, D.J.M., Spruit, L., Saris, J J., Ravine, D., Dandkuijl, L.A., Fossdal, R., Boersma, J., van Eijk, R., Borby, S., Constantinou-Deltas, C.D., et al. (1993). Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nature Genet. 5, 359-362.
-
(1993)
Nature Genet.
, vol.5
, pp. 359-362
-
-
Peters, D.J.M.1
Spruit, L.2
Saris, J.J.3
Ravine, D.4
Dandkuijl, L.A.5
Fossdal, R.6
Boersma, J.7
Van Eijk, R.8
Borby, S.9
Constantinou-Deltas, C.D.10
-
29
-
-
0024297102
-
Pausing in simian virus 40 DNA replication by a sequence containing (dG-dA)27·(dT-dC)27
-
Rao, B.S., Manor, H., and Martin, R.G. (1988). Pausing in simian virus 40 DNA replication by a sequence containing (dG-dA)27·(dT-dC)27. Nucleic Acids Res. 16, 8077-8094.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 8077-8094
-
-
Rao, B.S.1
Manor, H.2
Martin, R.G.3
-
30
-
-
0026478608
-
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease
-
Ravine, D., Walker, R.G., Gibson, R.N., Forrest, S.M., Richards, R.I., Friend, K., Sheffield, L.J., Kincaid-Smith, P., and Danks, D.M. (1992). Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340, 1330-1333.
-
(1992)
Lancet
, vol.340
, pp. 1330-1333
-
-
Ravine, D.1
Walker, R.G.2
Gibson, R.N.3
Forrest, S.M.4
Richards, R.I.5
Friend, K.6
Sheffield, L.J.7
Kincaid-Smith, P.8
Danks, D.M.9
-
31
-
-
0022410264
-
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
-
Reeders, S.T., Breuning, M.H., Davis, K.E.., Nicholls, R.D., Jarman, A.P., Higgs, D.R., and Weatherall, D.J. (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
Davis, K.E.3
Nicholls, R.D.4
Jarman, A.P.5
Higgs, D.R.6
Weatherall, D.J.7
-
32
-
-
0028244667
-
Characterization of the Han:SPRD rat model for hereditary polycystic kidney disease
-
Schäfer, K., Gretz, N., Bader, M., Obermüller, I., Eckardt, K.-U., Kriz, W., and Bachmann, S. (1994). Characterization of the Han:SPRD rat model for hereditary polycystic kidney disease. Kidney Int. 46, 134-152.
-
(1994)
Kidney Int.
, vol.46
, pp. 134-152
-
-
Schäfer, K.1
Gretz, N.2
Bader, M.3
Obermüller, I.4
Eckardt, K.-U.5
Kriz, W.6
Bachmann, S.7
-
33
-
-
0027998919
-
Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)
-
Snarey, A., Thomas, S., Schneider, M.C., Pound, S.E., Barton, N., Wright, A.F., Somlo, S., Germino, G.G., Harris, P.C., and Reeders, S.T. (1994). Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am. J. Hum. Genet. 55, 365-371.
-
(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
Somlo, S.7
Germino, G.G.8
Harris, P.C.9
Reeders, S.T.10
-
34
-
-
1842318283
-
Characterization and expression of a cDNA encoding the human androgen receptor
-
Tilley, W.D. Marcelli, M., Wilson, J.D., and McPhaul, M.J. (1989). Characterization and expression of a cDNA encoding the human androgen receptor. Proc. Natl. Acad. Sci. USA 86, 327-331.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 327-331
-
-
Tilley, W.D.1
Marcelli, M.2
Wilson, J.D.3
McPhaul, M.J.4
-
35
-
-
0030059301
-
Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair
-
Wang, G., Seidman, M.M., and Glazer, P.M. (1996). Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science 271, 802-805.
-
(1996)
Science
, vol.271
, pp. 802-805
-
-
Wang, G.1
Seidman, M.M.2
Glazer, P.M.3
-
36
-
-
0028264473
-
Langerhans'-cell histiocytosis (histiocytosis X): A clonal proferative disease
-
Willman, C.L., Busque, L., Griffith, B.B., Favara, B.E., McClain, K.L., Duncan, M.H., and Gilliland, D.G. (1994). Langerhans'-cell histiocytosis (histiocytosis X): a clonal proferative disease. N. Engl. J. Med. 331, 154-160.
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 154-160
-
-
Willman, C.L.1
Busque, L.2
Griffith, B.B.3
Favara, B.E.4
McClain, K.L.5
Duncan, M.H.6
Gilliland, D.G.7
-
37
-
-
0025836751
-
Triple helix formation inhibits transcription elongation in vitro
-
Young, SD. L., Krawczyk, S.H., Matteucci, M.D., and Toole, J.J. (1991). Triple helix formation inhibits transcription elongation in vitro. Proc. Natl. Acad. Sci. USA 88, 10023-10026.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 10023-10026
-
-
Young, S.D.L.1
Krawczyk, S.H.2
Matteucci, M.D.3
Toole, J.J.4
-
38
-
-
0027279639
-
Childhood onset autosomal dominant polycystic kidney disease in sibs: Clinical picture and recurrence risk. German Working Group on Paediatric Nephrology
-
Zerres, K., Rudnik-Schoneborn, S., and Deget, F. (1993). Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology. J. Med. Genet. 30, 583-588.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 583-588
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
Deget, F.3
|