-
1
-
-
84990888215
-
-
Hodson EM, Habashy D, Craig JC 2006 Interventions for idiopathic steroid-resistant nephrotic syndrome in children. Cochrane Database Syst Rev Apr 19(2):CD003594.
-
Hodson EM, , Habashy D, Craig JC 2006 Interventions for idiopathic steroid-resistant nephrotic syndrome in children. Cochrane Database Syst Rev Apr 19(2):CD003594.
-
-
-
-
2
-
-
32644437381
-
High incidence of initial and late steroid resistance in childhood nephrotic syndrome
-
Kim JS, Bellew CA, Silverstein DM, Aviles DH, Boineau FG, Vehaskari VM 2005 High incidence of initial and late steroid resistance in childhood nephrotic syndrome. Kidney Int 68:1275-1281
-
(2005)
Kidney Int
, vol.68
, pp. 1275-1281
-
-
Kim, J.S.1
Bellew, C.A.2
Silverstein, D.M.3
Aviles, D.H.4
Boineau, F.G.5
Vehaskari, V.M.6
-
3
-
-
0035141496
-
Clinical and genetic evaluation of familial steroid- responsive nephrotic syndrome in childhood
-
Fuchshuber A, Gribouval O, Ronner V, Kroiss S, Karle S, Brandis M, Hildebrandt F 2001 Clinical and genetic evaluation of familial steroid- responsive nephrotic syndrome in childhood. J Am Soc Nephrol 12:374-378
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 374-378
-
-
Fuchshuber, A.1
Gribouval, O.2
Ronner, V.3
Kroiss, S.4
Karle, S.5
Brandis, M.6
Hildebrandt, F.7
-
4
-
-
0032015551
-
Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
-
Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K 1998 Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1:575-582
-
(1998)
Mol Cell
, vol.1
, pp. 575-582
-
-
Kestila, M.1
Lenkkeri, U.2
Mannikko, M.3
Lamerdin, J.4
McCready, P.5
Putaala, H.6
Ruotsalainen, V.7
Morita, T.8
Nissinen, M.9
Herva, R.10
Kashtan, C.E.11
Peltonen, L.12
Holmberg, C.13
Olsen, A.14
Tryggvason, K.15
-
5
-
-
0034034757
-
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
-
Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349-354
-
(2000)
Nat Genet
, vol.24
, pp. 349-354
-
-
Boute, N.1
Gribouval, O.2
Roselli, S.3
Benessy, F.4
Lee, H.5
Fuchshuber, A.6
Dahan, K.7
Gubler, M.C.8
Niaudet, P.9
Antignac, C.10
-
6
-
-
0034051681
-
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
-
Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR 2000 Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 24:251-256
-
(2000)
Nat Genet
, vol.24
, pp. 251-256
-
-
Kaplan, J.M.1
Kim, S.H.2
North, K.N.3
Rennke, H.4
Correia, L.A.5
Tong, H.Q.6
Mathis, B.J.7
Rodriguez-Perez, J.C.8
Allen, P.G.9
Beggs, A.H.10
Pollak, M.R.11
-
7
-
-
21244487036
-
Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population
-
Orloff MS, Iyengar SK, Winkler CA, Goddard KA, Dart RA, Ahuja TS, Mokrzycki M, Briggs WA, Korbet SM, Kimmel PL, Simon EE, Trachtman H, Vlahov D, Michel DM, Berns JS, Smith MC, Schelling JR, Sedor JR, Kopp JB 2005 Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. Physiol Genomics 21:212-221
-
(2005)
Physiol Genomics
, vol.21
, pp. 212-221
-
-
Orloff, M.S.1
Iyengar, S.K.2
Winkler, C.A.3
Goddard, K.A.4
Dart, R.A.5
Ahuja, T.S.6
Mokrzycki, M.7
Briggs, W.A.8
Korbet, S.M.9
Kimmel, P.L.10
Simon, E.E.11
Trachtman, H.12
Vlahov, D.13
Michel, D.M.14
Berns, J.S.15
Smith, M.C.16
Schelling, J.R.17
Sedor, J.R.18
Kopp, J.B.19
-
8
-
-
20844461826
-
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
-
Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB 2005 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308:1801-1804
-
(2005)
Science
, vol.308
, pp. 1801-1804
-
-
Winn, M.P.1
Conlon, P.J.2
Lynn, K.L.3
Farrington, M.K.4
Creazzo, T.5
Hawkins, A.F.6
Daskalakis, N.7
Kwan, S.Y.8
Ebersviller, S.9
Burchette, J.L.10
Pericak-Vance, M.A.11
Howell, D.N.12
Vance, J.M.13
Rosenberg, P.B.14
-
9
-
-
2342631919
-
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS)
-
Lahdenkari AT, Kestila M, Holmberg C, Koskimies O, Jalanko H 2004 Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 65:1856-1863
-
(2004)
Kidney Int
, vol.65
, pp. 1856-1863
-
-
Lahdenkari, A.T.1
Kestila, M.2
Holmberg, C.3
Koskimies, O.4
Jalanko, H.5
-
10
-
-
0035038042
-
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
-
Beltcheva O, Martin P, Lenkkeri U, Tryggvason K 2001 Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17:368-373
-
(2001)
Hum Mutat
, vol.17
, pp. 368-373
-
-
Beltcheva, O.1
Martin, P.2
Lenkkeri, U.3
Tryggvason, K.4
-
11
-
-
0037084569
-
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
-
Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P 2002 Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11:379-388
-
(2002)
Hum Mol Genet
, vol.11
, pp. 379-388
-
-
Koziell, A.1
Grech, V.2
Hussain, S.3
Lee, G.4
Lenkkeri, U.5
Tryggvason, K.6
Scambler, P.7
-
12
-
-
0036151614
-
Novel mutations in NPHS2 detected in both familial and sporadic steroid- resistant nephrotic syndrome
-
Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A 2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid- resistant nephrotic syndrome. J Am Soc Nephrol 13:388-393
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 388-393
-
-
Karle, S.M.1
Uetz, B.2
Ronner, V.3
Glaeser, L.4
Hildebrandt, F.5
Fuchshuber, A.6
-
13
-
-
0035199469
-
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis
-
Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM 2001 Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 12:2742-2746
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 2742-2746
-
-
Caridi, G.1
Bertelli, R.2
Carrea, A.3
Di Duca, M.4
Catarsi, P.5
Artero, M.6
Carraro, M.7
Zennaro, C.8
Candiano, G.9
Musante, L.10
Seri, M.11
Ginevri, F.12
Perfumo, F.13
Ghiggeri, G.M.14
-
14
-
-
0036158076
-
Not all in the family: Mutations of podocin in sporadic steroid-resistant nephrotic syndrome
-
Winn MP 2002 Not all in the family: mutations of podocin in sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 13:577-579
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 577-579
-
-
Winn, M.P.1
-
15
-
-
22344436817
-
Clinical features and outcome of childhood minimal change nephrotic syndrome: Is genetics involved?
-
Lahdenkari AT, Suvanto M, Kajantie E, Koskimies O, Kestila M, Jalanko H 2005 Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved? Pediatr Nephrol 20:1073-1080
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 1073-1080
-
-
Lahdenkari, A.T.1
Suvanto, M.2
Kajantie, E.3
Koskimies, O.4
Kestila, M.5
Jalanko, H.6
-
16
-
-
0037407214
-
Broadening the spectrum of diseases related to podocin mutations
-
Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM 2003 Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 14:1278-1286
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 1278-1286
-
-
Caridi, G.1
Bertelli, R.2
Di Duca, M.3
Dagnino, M.4
Emma, F.5
Onetti Muda, A.6
Scolari, F.7
Miglietti, N.8
Mazzucco, G.9
Murer, L.10
Carrea, A.11
Massella, L.12
Rizzoni, G.13
Perfumo, F.14
Ghiggeri, G.M.15
-
17
-
-
8844251405
-
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
-
Schultheiss M, Ruf RG, Mucha BE, Wiggins R, Fuchshuber A, Lichtenberger A, Hildebrandt F 2004 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol 19:1340-1348
-
(2004)
Pediatr Nephrol
, vol.19
, pp. 1340-1348
-
-
Schultheiss, M.1
Ruf, R.G.2
Mucha, B.E.3
Wiggins, R.4
Fuchshuber, A.5
Lichtenberger, A.6
Hildebrandt, F.7
-
18
-
-
18944383337
-
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children
-
Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, Liu J, Yang J 2005 Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrol Dial Transplant 20:902-908
-
(2005)
Nephrol Dial Transplant
, vol.20
, pp. 902-908
-
-
Yu, Z.1
Ding, J.2
Huang, J.3
Yao, Y.4
Xiao, H.5
Zhang, J.6
Liu, J.7
Yang, J.8
-
19
-
-
3242795082
-
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence
-
Weber S, Gribouval O, Esquivel EL, Moriniere V, Tete MJ, Legendre C, Niaudet P, Antignac C 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66:571-579
-
(2004)
Kidney Int
, vol.66
, pp. 571-579
-
-
Weber, S.1
Gribouval, O.2
Esquivel, E.L.3
Moriniere, V.4
Tete, M.J.5
Legendre, C.6
Niaudet, P.7
Antignac, C.8
-
20
-
-
85190659233
-
-
Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F Arbeitsgemeinschaft Fur Padiatrische Nephrologie Study Group 2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722-732.
-
Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F Arbeitsgemeinschaft Fur Padiatrische Nephrologie Study Group 2004 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722-732.
-
-
-
-
21
-
-
1642463951
-
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin
-
Caridi G, Berdeli A, Dagnino M, Di Duca M, Mir S, Cura A, Ravazzolo R, Ghiggeri GM 2004 Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin. Am J Kidney Dis 43:727-732
-
(2004)
Am J Kidney Dis
, vol.43
, pp. 727-732
-
-
Caridi, G.1
Berdeli, A.2
Dagnino, M.3
Di Duca, M.4
Mir, S.5
Cura, A.6
Ravazzolo, R.7
Ghiggeri, G.M.8
-
22
-
-
4644353639
-
Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria
-
Caridi G, Bertelli R, Perfumo F, Ghiggeri GM 2004 Heterozygous NPHS1 or NPHS2 mutations in responsive nephrotic syndrome and the multifactorial origin of proteinuria. Kidney Int 66:1715-1716
-
(2004)
Kidney Int
, vol.66
, pp. 1715-1716
-
-
Caridi, G.1
Bertelli, R.2
Perfumo, F.3
Ghiggeri, G.M.4
-
23
-
-
4243834586
-
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
-
de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG 2003 A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet 40:845-848
-
(2003)
J Med Genet
, vol.40
, pp. 845-848
-
-
de Bernabé, D.B.1
van Bokhoven, H.2
van Beusekom, E.3
Van den Akker, W.4
Kant, S.5
Dobyns, W.B.6
Cormand, B.7
Currier, S.8
Hamel, B.9
Talim, B.10
Topaloglu, H.11
Brunner, H.G.12
-
24
-
-
0034605653
-
Single gene disorders or complex traits: Lessons from the thalassaemias and other monogenic diseases
-
Weatherall DJ 2000 Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases. BMJ 321:1117-1120
-
(2000)
BMJ
, vol.321
, pp. 1117-1120
-
-
Weatherall, D.J.1
-
25
-
-
3242674580
-
Three siblings with steroid-resistant nephrotic syndrome: New NPHS2 mutations in a Turkish family
-
Ekim M, Ozcakar ZB, Acar B, Yuksel S, Yalcnkaya F, Tulunay O, Ensari A, Erbay B 2004 Three siblings with steroid-resistant nephrotic syndrome: new NPHS2 mutations in a Turkish family. Am J Kidney Dis 44:E22-E24
-
(2004)
Am J Kidney Dis
, vol.44
-
-
Ekim, M.1
Ozcakar, Z.B.2
Acar, B.3
Yuksel, S.4
Yalcnkaya, F.5
Tulunay, O.6
Ensari, A.7
Erbay, B.8
|