-
1
-
-
0002920802
-
Familial dysplasia of kidneys, liver and pancreas. A probably genetically determined syndrome
-
Ivemark BI, Oldfelt V, Zetterström R. Familial dysplasia of kidneys, liver and pancreas. A probably genetically determined syndrome. Acta Paediatr Scand 1959;48:1-11.
-
(1959)
Acta Paediatr Scand
, vol.48
, pp. 1-11
-
-
Ivemark, B.I.1
Oldfelt, V.2
Zetterström, R.3
-
2
-
-
0018072098
-
Renal dysplasia and asplenia in two sibs
-
Crawfurd Md'A. Renal dysplasia and asplenia in two sibs. Clin Genet 1978;14:338-14.
-
(1978)
Clin Genet
, vol.14
, pp. 338-414
-
-
Crawfurd, Md'A.1
-
3
-
-
0018346249
-
Dysplasia of the kidneys, liver and pancreas: Report of a variant of Ivemark's syndrome
-
Strayer DS, Kissane JM. Dysplasia of the kidneys, liver and pancreas: report of a variant of Ivemark's syndrome. Hum Pathol 1979;10:228-34.
-
(1979)
Hum Pathol
, vol.10
, pp. 228-234
-
-
Strayer, D.S.1
Kissane, J.M.2
-
4
-
-
0022859161
-
Renal-hepaticpancreatic dysplasia: A syndrome reconsidered
-
Bernstein J, Chandra M, Creswell J, et al. Renal-hepaticpancreatic dysplasia: a syndrome reconsidered. Am J Med Genet 1987;26:391-403.
-
(1987)
Am J Med Genet
, vol.26
, pp. 391-403
-
-
Bernstein, J.1
Chandra, M.2
Creswell, J.3
-
5
-
-
0023929594
-
Renal, pancreatic and hepatic dysplasia sequence
-
Carles D, Serville F, Dubecq JP, Gonnet JM. Renal, pancreatic and hepatic dysplasia sequence. Eur J Pediatr 1988;147:431-2.
-
(1988)
Eur J Pediatr
, vol.147
, pp. 431-432
-
-
Carles, D.1
Serville, F.2
Dubecq, J.P.3
Gonnet, J.M.4
-
7
-
-
0028282550
-
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
-
Zerres K, Muecher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nature Genet 1994;7:429-32.
-
(1994)
Nature Genet
, vol.7
, pp. 429-432
-
-
Zerres, K.1
Muecher, G.2
Bachner, L.3
-
8
-
-
0028906290
-
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling
-
Guay-Woodford LM, Muecher G, Hopkins SD, et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am J Hum Genet 1995;56:1101-7.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1101-1107
-
-
Guay-Woodford, L.M.1
Muecher, G.2
Hopkins, S.D.3
-
9
-
-
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;317:542-4.
-
(1985)
Nature
, vol.317
, pp. 542-544
-
-
Reeders, S.T.1
Breuning, M.H.2
Davies, K.E.3
-
10
-
-
0027767585
-
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13-q23
-
Kimberling WJ, Kumar S, Gabow P, Kenyon JB, Conolly CJ, Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 1993;18:467-72.
-
(1993)
Genomics
, vol.18
, pp. 467-472
-
-
Kimberling, W.J.1
Kumar, S.2
Gabow, P.3
Kenyon, J.B.4
Conolly, C.J.5
Somlo, S.6
-
11
-
-
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;5:359-62.
-
(1993)
Nature Genet
, vol.5
, pp. 359-362
-
-
Peters, D.J.M.1
Spruit, L.2
Saris, J.J.3
-
12
-
-
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;25:733-6.
-
(1995)
Genomics
, vol.25
, pp. 733-736
-
-
Daoust, M.C.1
Reynolds, D.M.2
Bichet, D.G.3
Somlo, S.4
-
13
-
-
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;323:1085-90.
-
(1990)
N Engl J Med
, vol.323
, pp. 1085-1090
-
-
Parfrey, P.S.1
Bear, J.C.2
Morgan, J.3
-
14
-
-
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;340:1330-3.
-
(1992)
Lancet
, vol.340
, pp. 1330-1333
-
-
Ravine, D.1
Walker, R.G.2
Gibson, R.N.3
-
15
-
-
0342635962
-
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 1994;77:281-314.
-
(1994)
Cell
, vol.77
, pp. 281-314
-
-
-
16
-
-
0028942745
-
Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucinerich repeat
-
American ADPKD1 Consortium. Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucinerich repeat. Hum Molec Genet 1995;4:575-82.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 575-582
-
-
-
17
-
-
0029002967
-
Polycystic kidney disease: The complete structure of the PKD1 gene and its protein
-
International ADPKD Consortium. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell 1995;81:289-94.
-
(1995)
Cell
, vol.81
, pp. 289-294
-
-
-
18
-
-
0028938064
-
Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
-
Peral B, Gamble V, San Millán JL, et al. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Molec Genet 1995;4:569-74.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 569-574
-
-
Peral, B.1
Gamble, V.2
San Millán, J.L.3
-
19
-
-
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, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF. 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 Molec Genet 1995;4:1331-5.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 1331-1335
-
-
Turco, A.E.1
Rossetti, S.2
Bresin, E.3
Corra, S.4
Gammaro, L.5
Maschio, G.6
Pignatti, P.F.7
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