-
1
-
-
0027326851
-
Renal cystic disease in tuberous sclerosis complex
-
Bernstein J (1993) Renal cystic disease in tuberous sclerosis complex. Pediatr Nephrol 7:490-495
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 490-495
-
-
Bernstein, J.1
-
2
-
-
0031035050
-
Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis
-
Brasier JL, Henske EP (1997) Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J Clin Invest 99:194-199
-
(1997)
J Clin Invest
, vol.99
, pp. 194-199
-
-
Brasier, J.L.1
Henske, E.P.2
-
3
-
-
0028051871
-
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome
-
Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar M, Nellist M, et al (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8: 328-332
-
(1994)
Nat Genet
, vol.8
, pp. 328-332
-
-
Brook-Carter, P.T.1
Peral, B.2
Ward, C.J.3
Thompson, P.4
Hughes, J.5
Maheshwar, M.6
Nellist, M.7
-
4
-
-
0027151887
-
Early presentation of tuberous sclerosis as bilateral renal cysts
-
Campos A, Figueroa ET, Gunasekaran S, Garin E (1993) Early presentation of tuberous sclerosis as bilateral renal cysts. J Urol 149:1077-1079
-
(1993)
J Urol
, vol.149
, pp. 1077-1079
-
-
Campos, A.1
Figueroa, E.T.2
Gunasekaran, S.3
Garin, E.4
-
5
-
-
0016916438
-
Prediction of creatinine clearance from serum creatinine
-
Cockcroft DW, Gault MH (1976) Prediction of creatinine clearance from serum creatinine. Nephron 16:31-41
-
(1976)
Nephron
, vol.16
, pp. 31-41
-
-
Cockcroft, D.W.1
Gault, M.H.2
-
6
-
-
0029903275
-
A cross-sectional study of renal involvement in tuberous sclerosis
-
Cook JA, Oliver K, Mueller RF, Sampson JR (1996) A cross-sectional study of renal involvement in tuberous sclerosis. J Med Genet 33:480-484
-
(1996)
J Med Genet
, vol.33
, pp. 480-484
-
-
Cook, J.A.1
Oliver, K.2
Mueller, R.F.3
Sampson, J.R.4
-
7
-
-
0014501768
-
Tuberous sclerosis with polycystic kidneys
-
Cree JE (1969) Tuberous sclerosis with polycystic kidneys. Proc R Soc Med 62:327
-
(1969)
Proc R Soc Med
, vol.62
, pp. 327
-
-
Cree, J.E.1
-
8
-
-
0014444297
-
Cystic disease of the kidney: Radiological and pathological considerations
-
Elkin M, Bernstein J (1969) Cystic disease of the kidney: radiological and pathological considerations. Clin Radiol 20:65-82
-
(1969)
Clin Radiol
, vol.20
, pp. 65-82
-
-
Elkin, M.1
Bernstein, J.2
-
9
-
-
0027770784
-
Identification and characterisation of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium, The (1993) Identification and characterisation of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
10
-
-
0028278058
-
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 (1994) The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell 77:881-894
-
(1994)
Cell
, vol.77
, pp. 881-894
-
-
-
11
-
-
0023158819
-
Evidence that the gene for tuberous sclerosis is on chromosome 9
-
Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates A, Yates J, et al (1987) Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1:659-661
-
(1987)
Lancet
, vol.1
, pp. 659-661
-
-
Fryer, A.E.1
Chalmers, A.2
Connor, J.M.3
Fraser, I.4
Povey, S.5
Yates, A.6
Yates, J.7
-
13
-
-
0025723450
-
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
-
Harris PC, Thomas S, Ratcliffe PJ, Breuning MH, Goto E, Lopez-Larrea C (1991) Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 338:1484-1487
-
(1991)
Lancet
, vol.338
, pp. 1484-1487
-
-
Harris, P.C.1
Thomas, S.2
Ratcliffe, P.J.3
Breuning, M.H.4
Goto, E.5
Lopez-Larrea, C.6
-
14
-
-
0023652388
-
A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion
-
Hermann BG, Barlow DP, Lehrach H (1987) A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion. Cell 48:813-825
-
(1987)
Cell
, vol.48
, pp. 813-825
-
-
Hermann, B.G.1
Barlow, D.P.2
Lehrach, H.3
-
15
-
-
0029069583
-
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
-
Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Milan J, Gamble V, et al (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 10:151-159
-
(1995)
Nat Genet
, vol.10
, pp. 151-159
-
-
Hughes, J.1
Ward, C.J.2
Peral, B.3
Aspinwall, R.4
Clark, K.5
San Milan, J.6
Gamble, V.7
-
16
-
-
0026922021
-
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
-
Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, Short MP, Dumars K, et al (1992) Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 2:37-41
-
(1992)
Nat Genet
, vol.2
, pp. 37-41
-
-
Kandt, R.S.1
Haines, J.L.2
Smith, M.3
Northrup, H.4
Gardner, R.J.M.5
Short, M.P.6
Dumars, K.7
-
19
-
-
0028938064
-
Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
-
Peral B, Gamble V, San Millan JL, Strong C, Sloane-Stanley J, Moreno F, Harris PC (1995) Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 4:569-574
-
(1995)
Hum Mol Genet
, vol.4
, pp. 569-574
-
-
Peral, B.1
Gamble, V.2
San Millan, J.L.3
Strong, C.4
Sloane-Stanley, J.5
Moreno, F.6
Harris, P.C.7
-
20
-
-
0029655664
-
Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
-
Peral B, San Millán JL, Ong ACM, Gamble V, Ward CJ, Strong C, Harris PC (1996) 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.M.3
Gamble, V.4
Ward, C.J.5
Strong, C.6
Harris, P.C.7
-
21
-
-
0030582668
-
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1
-
Qian F, Watnick TJ, Onuchic LF, Germino GG (1996) The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell 87:979-987
-
(1996)
Cell
, vol.87
, pp. 979-987
-
-
Qian, F.1
Watnick, T.J.2
Onuchic, L.F.3
Germino, G.G.4
-
22
-
-
0026844336
-
Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association
-
Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L (1992) Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association. J Child Neurol 7:221-224
-
(1992)
J Child Neurol
, vol.7
, pp. 221-224
-
-
Roach, E.S.1
Smith, M.2
Huttenlocher, P.3
Bhat, M.4
Alcorn, D.5
Hawley, L.6
-
23
-
-
0003903343
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2d ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
(1989)
Molecular Cloning: A Laboratory Manual, 2d Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
24
-
-
0017195506
-
A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine
-
Schwartz GJ, Haycock GB, Edelmann CM Jr, Spitzer A (1976) A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 58:259-263
-
(1976)
Pediatrics
, vol.58
, pp. 259-263
-
-
Schwartz, G.J.1
Haycock, G.B.2
Edelmann Jr., C.M.3
Spitzer, A.4
-
25
-
-
0026096189
-
Causes of death in patients with tuberous sclerosis
-
Shepherd CW, Gomez MR, Lie JT (1991) Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 66:792-796
-
(1991)
Mayo Clin Proc
, vol.66
, pp. 792-796
-
-
Shepherd, C.W.1
Gomez, M.R.2
Lie, J.T.3
-
27
-
-
0028252160
-
The kidney in tuberous sclerosis
-
Torres VE, King BF, Holley KE, Blute ML, Gomez MR (1994) The kidney in tuberous sclerosis. Adv Nephrol 23:43-70
-
(1994)
Adv Nephrol
, vol.23
, pp. 43-70
-
-
Torres, V.E.1
King, B.F.2
Holley, K.E.3
Blute, M.L.4
Gomez, M.R.5
-
28
-
-
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, Rosseti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF (1995) 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 4:1331-1335
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1331-1335
-
-
Turco, A.E.1
Rosseti, S.2
Bresin, E.3
Corra, S.4
Gammaro, L.5
Maschio, G.6
Pignatti, P.F.7
-
29
-
-
0029928062
-
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney
-
Ward CJ, Turley H, Ong ACM, Comley M, Biddolph S, Chetty R, Ratcliffe P, et al (1996) Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Proc Natl Acad Sci USA 93: 1524-1528
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 1524-1528
-
-
Ward, C.J.1
Turley, H.2
Ong, A.C.M.3
Comley, M.4
Biddolph, S.5
Chetty, R.6
Ratcliffe, P.7
-
30
-
-
0027286714
-
Tuberous sclerosis and polycystic kidney disease
-
Webb DW, Super M, Normand CS, Osborne JP (1993) Tuberous sclerosis and polycystic kidney disease. BMJ 306:1258-1259
-
(1993)
BMJ
, vol.306
, pp. 1258-1259
-
-
Webb, D.W.1
Super, M.2
Normand, C.S.3
Osborne, J.P.4
-
31
-
-
0014867112
-
Tuberous sclerosis presenting as polycystic kidneys in an infant
-
Wenzl JE, Largos JC, Albers DD (1970) Tuberous sclerosis presenting as polycystic kidneys in an infant. J Pediatr 77: 673-676
-
(1970)
J Pediatr
, vol.77
, pp. 673-676
-
-
Wenzl, J.E.1
Largos, J.C.2
Albers, D.D.3
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