-
1
-
-
0035861004
-
Implications of the human genome for understanding human biology and medicine
-
Subramanian G, Adam MD, CraigVenter J. Implications of the human genome for understanding human biology and medicine. JAMA 2001; 286: 2296-307.
-
(2001)
JAMA
, vol.286
, pp. 2296-2307
-
-
Subramanian, G.1
Adam, M.D.2
Craigventer, J.3
-
2
-
-
0034087414
-
Genetic and clinical aspects of familial renal neoplasms
-
Iliopoulos O, Eng C. Genetic and clinical aspects of familial renal neoplasms. Semin Oncol 2000; 27: 138-49.
-
(2000)
Semin Oncol
, vol.27
, pp. 138-149
-
-
Iliopoulos, O.1
Eng, C.2
-
3
-
-
0034936702
-
Insights into the role of the von Hippel-Lindau gene product - A key player in hypoxic regulation
-
Maxwell PH, Pugh CW, Ratcliffe PJ. Insights into the role of the von Hippel-Lindau gene product - A key player in hypoxic regulation. Exp Nephrol 2001; 9: 235-40.
-
(2001)
Exp Nephrol
, vol.9
, pp. 235-240
-
-
Maxwell, P.H.1
Pugh, C.W.2
Ratcliffe, P.J.3
-
4
-
-
0035859692
-
HIF-1/α binding to VHL is regulated by stimulus-sensitive proline hydroxylation
-
Yu F, White SB, Zhao Q, Lee FS. HIF-1/α binding to VHL is regulated by stimulus-sensitive proline hydroxylation. Proc Natl Acad Sci USA 2001; 98: 9630-5.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 9630-9635
-
-
Yu, F.1
White, S.B.2
Zhao, Q.3
Lee, F.S.4
-
5
-
-
0032884792
-
Familial IgA nephropathy
-
Scolari F. Familial IgA nephropathy. J Nephrol 1999; 12: 213-9.
-
(1999)
J Nephrol
, vol.12
, pp. 213-219
-
-
Scolari, F.1
-
6
-
-
0033762699
-
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23
-
Gharavi AG, Yan Y, Scolari F. IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Nat Genet 2000; 26: 354-7.
-
(2000)
Nat Genet
, vol.26
, pp. 354-357
-
-
Gharavi, A.G.1
Yan, Y.2
Scolari, F.3
-
7
-
-
0032730875
-
Unraveling the mechanisms of glomerular ultrafiltration: Nephrin, a key component of the slit diaphragm
-
Tryggvason K. Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm. J Am Soc Nephrol 1999; 10: 2440-5.
-
(1999)
J Am Soc Nephrol
, vol.10
, pp. 2440-2445
-
-
Tryggvason, K.1
-
8
-
-
0034034757
-
NPHS2, encoding the glomerular protein prodocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
-
Boute N, Gruibouval O, Roselli S. NPHS2, encoding the glomerular protein prodocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24: 349-54.
-
(2000)
Nat Genet
, vol.24
, pp. 349-354
-
-
Boute, N.1
Gruibouval, O.2
Roselli, S.3
-
9
-
-
0034051681
-
Mutations in ACTN4 encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
-
Kaplan JM, Kim SH, North KN. Mutations in ACTN4 encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 2000; 24: 251-6.
-
(2000)
Nat Genet
, vol.24
, pp. 251-256
-
-
Kaplan, J.M.1
Kim, S.H.2
North, K.N.3
-
11
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
Katsanis N, Ansely SJ, Badano JL. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001; 293: 2256-9.
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Ansely, S.J.2
Badano, J.L.3
-
12
-
-
0035929315
-
Genetics. The land between Mendelian and multifactorial inheritance
-
Burghes AH, Vaessin HE, de La Chapelle A. Genetics. The land between Mendelian and multifactorial inheritance. Science 2001; 293: 2213-4.
-
(2001)
Science
, vol.293
, pp. 2213-2214
-
-
Burghes, A.H.1
Vaessin, H.E.2
De La Chapelle, A.3
-
13
-
-
0031884633
-
A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13
-
Mathis B, Kim SH, Calabrese K. A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int 1998; 53: 282-6.
-
(1998)
Kidney Int
, vol.53
, pp. 282-286
-
-
Mathis, B.1
Kim, S.H.2
Calabrese, K.3
-
14
-
-
0035799103
-
Misconceptions about the use of genetic tests in populations
-
Vineis P, Schulte P, McMichael AJ. Misconceptions about the use of genetic tests in populations. Lancet 2001; 357: 709-12.
-
(2001)
Lancet
, vol.357
, pp. 709-712
-
-
Vineis, P.1
Schulte, P.2
McMichael, A.J.3
-
15
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease
-
Schiffmann R, Kopp JB, Austin III HA. Enzyme replacement therapy in Fabry disease. JAMA 2001; 285: 2743-9.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
-
16
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase: A replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox W. Safety and efficacy of recombinant human α-galactosidase: A replacement therapy in Fabry's disease. N Engl J Med 2001; 345: 9-16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.3
-
17
-
-
0031945551
-
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
-
Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998; 18: 319-24.
-
(1998)
Nat Genet
, vol.18
, pp. 319-324
-
-
Town, M.1
Jean, G.2
Cherqui, S.3
Attard, M.4
Forestier, L.5
Whitmore, S.A.6
Callen, D.F.7
Gribouval, O.8
Broyer, M.9
Bates, G.P.10
Van't Hoff, W.11
Antignac, C.12
-
18
-
-
0002129939
-
Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns
-
Cherqui S, Kalatzis V, Forestier L, Poras I, Antignac C. Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. Genomics 2000; 1: 2.
-
(2000)
Genomics
, vol.1
, pp. 2
-
-
Cherqui, S.1
Kalatzis, V.2
Forestier, L.3
Poras, I.4
Antignac, C.5
-
19
-
-
0035503565
-
Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter
-
Kalatzis V, Cherqui S, Antignac C. Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. EMBO J 2001; 20: 5940-9.
-
(2001)
EMBO J
, vol.20
, pp. 5940-5949
-
-
Kalatzis, V.1
Cherqui, S.2
Antignac, C.3
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