-
1
-
-
13344285352
-
Circulating factor associated with increased glomerular permeability to albumin in recurrent focal segmental glomerulosclerosis
-
1. SAVIN VJ, SHARMA R, SHARMA M, MCCARTHY ET, SWAN SK, ELLIS E, LOVELL H, WARADY B, GUNWAR S, CHONKO AM, ARTERO M, VINCENTI F: Circulating factor associated with increased glomerular permeability to albumin in recurrent focal segmental glomerulosclerosis. N Engl J Med 334:878-883, 1996
-
(1996)
N Engl J Med
, vol.334
, pp. 878-883
-
-
Savin, V.J.1
Sharma, R.2
Sharma, M.3
McCarthy, E.T.4
Swan, S.K.5
Ellis, E.6
Lovell, H.7
Warady, B.8
Gunwar, S.9
Chonko, A.M.10
Artero, M.11
Vincenti, F.12
-
2
-
-
0028792063
-
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
-
2. FUCHSHUBER A, JEAN G, GRIBOUVAL O, GUBLER MC, BROYER M, BECKMANN JS, NIAUDET P, ANTIGNAC C: Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 4:2155-2158, 1995
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2155-2158
-
-
Fuchshuber, A.1
Jean, G.2
Gribouval, O.3
Gubler, M.C.4
Broyer, M.5
Beckmann, J.S.6
Niaudet, P.7
Antignac, C.8
-
3
-
-
0031884633
-
A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13
-
3. MATHIS BJ, KIM SH, CALABRESE K, HAAS M, SEIDMAN JG, SEIDMAN CE, POLLAK MR: A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int 53:282-286, 1998
-
(1998)
Kidney Int
, vol.53
, pp. 282-286
-
-
Mathis, B.J.1
Kim, S.H.2
Calabrese, K.3
Haas, M.4
Seidman, J.G.5
Seidman, C.E.6
Pollak, M.R.7
-
4
-
-
0033152045
-
Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity
-
4. WINN MP, CONLON PJ, LYNN KL, HOWELL DN, SLOTTERBECK BD, SMITH AH, GRAHAM FL, BEMBE ML, QUARLES LD, PERICAK-VANCE MA, VANCE JM: Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics 58:113-120, 1999
-
(1999)
Genomics
, vol.58
, pp. 113-120
-
-
Winn, M.P.1
Conlon, P.J.2
Lynn, K.L.3
Howell, D.N.4
Slotterbeck, B.D.5
Smith, A.H.6
Graham, F.L.7
Bembe, M.L.8
Quarles, L.D.9
Pericak-Vance, M.A.10
Vance, J.M.11
-
5
-
-
16944365351
-
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
-
5. BARBAUX S, NIAUDET P, GUBLER MC, GRUNFELD JP, JAUBERT F, KUTTENN F, NIHOUL FEKETE C, SOULEYREAU-THERVILLE N, THIBAUD E, FELLOUS M, MCELREAVEY K: Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467-470, 1997
-
(1997)
Nat Genet
, vol.17
, pp. 467-470
-
-
Barbaux, S.1
Niaudet, P.2
Gubler, M.C.3
Grunfeld, J.P.4
Jaubert, F.5
Kuttenn, F.6
Nihoul Fekete, C.7
Souleyreau-Therville, N.8
Thibaud, E.9
Fellous, M.10
McElreavey, K.11
-
6
-
-
0031922880
-
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
-
6. KLAMT B, KOZIELL A, POULAT F, WIEACKER P, SCAMBLER P, BERTA P, GESSLER M: Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet 7:709-714, 1998
-
(1998)
Hum Mol Genet
, vol.7
, pp. 709-714
-
-
Klamt, B.1
Koziell, A.2
Poulat, F.3
Wieacker, P.4
Scambler, P.5
Berta, P.6
Gessler, M.7
-
7
-
-
0031972063
-
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
-
7. KIKUCHI H, TAKATA A, AKASAKA Y, KUKUZAWA R, YONEYAMA H, KUROSAWA Y, HONDA M, KAMIYAMA Y, HATA JI: Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 35:45-48, 1998
-
(1998)
J Med Genet
, vol.35
, pp. 45-48
-
-
Kikuchi, H.1
Takata, A.2
Akasaka, Y.3
Kukuzawa, R.4
Yoneyama, H.5
Kurosawa, Y.6
Honda, M.7
Kamiyama, Y.8
Hata, J.I.9
-
8
-
-
0027054125
-
The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo
-
8. ARMSTRONG JF, PRITCHARD-JONES K, BICKMORE WA, HASTIE ND, BARD JB: The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo. Mech Dev 40:85-97, 1992
-
(1992)
Mech Dev
, vol.40
, pp. 85-97
-
-
Armstrong, J.F.1
Pritchard-Jones, K.2
Bickmore, W.A.3
Hastie, N.D.4
Bard, J.B.5
-
9
-
-
0025291908
-
The candidate Wilms' tumour gene is involved in genitourinary development
-
9. PRITCHARD-JONES K, FLEMING S, DAVIDSON D, BICKMORE W, PORTEOUS D, GOSDEN C, BARD J, BUCKLER A, PELLETIER J, HOUSMAN D, VAN HEYNINGEN V, HASTIE N: The candidate Wilms' tumour gene is involved in genitourinary development. Nature 346:194-197, 1990
-
(1990)
Nature
, vol.346
, pp. 194-197
-
-
Pritchard-Jones, K.1
Fleming, S.2
Davidson, D.3
Bickmore, W.4
Porteous, D.5
Gosden, C.6
Bard, J.7
Buckler, A.8
Pelletier, J.9
Housman, D.10
Van Heyningen, V.11
Hastie, N.12
-
10
-
-
0025992044
-
Alternative splicing and genomic structure of the Wilms' tumor gene WT1
-
10. HABER DA, SOHN RL, BUCKLER A, PELLETIER J, CALL KM, HOUSMAN DE: Alternative splicing and genomic structure of the Wilms' tumor gene WT1. Proc Natl Acad Sci USA 88:9618-9622, 1991
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 9618-9622
-
-
Haber, D.A.1
Sohn, R.L.2
Buckler, A.3
Pelletier, J.4
Call, K.M.5
Housman, D.E.6
-
11
-
-
0029071508
-
Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing
-
11. LARSSON SH, CHARLIEU JP, MIYAGAWA K, ENGELKAMP D, RASSOULZADEGAN M, ROSS A, CUZIN P, VAN HEYNINGEN V, HASTIE N: Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 81:391-401, 1995
-
(1995)
Cell
, vol.81
, pp. 391-401
-
-
Larsson, S.H.1
Charlieu, J.P.2
Miyagawa, K.3
Engelkamp, D.4
Rassoulzadegan, M.5
Ross, A.6
Cuzin, P.7
Van Heyningen, V.8
Hastie, N.9
-
12
-
-
17344364993
-
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database
-
12. JEANPIERRE C, DENAMUR E, HENRY I, CABANIS MO, LUCE S, CECILLE A, ELION J, PEUCHMAUR M, LOIRAT C, NIAUDET P, GUBLER MC, JUNIEN C: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824-833, 1998
-
(1998)
Am J Hum Genet
, vol.62
, pp. 824-833
-
-
Jeanpierre, C.1
Denamur, E.2
Henry, I.3
Cabanis, M.O.4
Luce, S.5
Cecille, A.6
Elion, J.7
Peuchmaur, M.8
Loirat, C.9
Niaudet, P.10
Gubler, M.C.11
Junien, C.12
-
13
-
-
0030891372
-
A clinical overview of WT1 gene mutations
-
13. LITTLE M, WELLS C: A clinical overview of WT1 gene mutations. Hum Mutat 9:209-225, 1997
-
(1997)
Hum Mutat
, vol.9
, pp. 209-225
-
-
Little, M.1
Wells, C.2
-
14
-
-
7144261709
-
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations
-
14. SCHUMACHER V, SCHÄRER K, WÜHL E, ALTROGGE H, BONZEL KE, GUSCHMANN M, NEUHAUS TJ, POLLASTRO RM, KUWERTZ-BRÖKING E, BULLA M, TONDER AM, MUNDEL P, HELMCHEN U, WALDHERR R, WEIRICH A, ROYER-POKORA B: Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 53:1594-1600, 1998
-
(1998)
Kidney Int
, vol.53
, pp. 1594-1600
-
-
Schumacher, V.1
Schärer, K.2
Wühl, E.3
Altrogge, H.4
Bonzel, K.E.5
Guschmann, M.6
Neuhaus, T.J.7
Pollastro, R.M.8
Kuwertz-Bröking, E.9
Bulla, M.10
Tonder, A.M.11
Mundel, P.12
Helmchen, U.13
Waldherr, R.14
Weirich, A.15
Royer-Pokora, B.16
-
15
-
-
0027182741
-
WT1 is required for early kidney development
-
15. KREIDBERG JA, SARIOLA H, LORING JM, MAEDA M, PELLETIER J, HOUSMAN D, JAENISCH R: WT1 is required for early kidney development. Cell 74:679-691, 1993
-
(1993)
Cell
, vol.74
, pp. 679-691
-
-
Kreidberg, J.A.1
Sariola, H.2
Loring, J.M.3
Maeda, M.4
Pelletier, J.5
Housman, D.6
Jaenisch, R.7
-
16
-
-
0029021729
-
Diaphragmatic hernia in Denys-Drash syndrome
-
16. DEVRIENDT K, DELOOF E, MOERMAN P, LEGIUS E, VANHOLE C, DE ZEGHER F, PROESMANS W, DEVLIEGER H: Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet 57:97-101, 1995
-
(1995)
Am J Med Genet
, vol.57
, pp. 97-101
-
-
Devriendt, K.1
Deloof, E.2
Moerman, P.3
Legius, E.4
Vanhole, C.5
De Zegher, F.6
Proesmans, W.7
Devlieger, H.8
-
17
-
-
0032824381
-
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases
-
17. DENAMUR E, BOCQUET N, MOUGENOT B, DA SILVA F, MARTINAT L, LOIRAT C, ELION J, BENSMAN A, RONCO PM: Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. J Am Soc Nephrol 10:2219-2223, 1999
-
(1999)
J Am Soc Nephrol
, vol.10
, pp. 2219-2223
-
-
Denamur, E.1
Bocquet, N.2
Mougenot, B.3
Da Silva, F.4
Martinat, L.5
Loirat, C.6
Elion, J.7
Bensman, A.8
Ronco, P.M.9
-
18
-
-
0032951003
-
WT1 nephropathy in a girl with normal karyotype (46,XX)
-
18. TSUDA M, OWADA M, TSUCHIYA M, MURAKAMI M, SAKIYAMA T: WT1 nephropathy in a girl with normal karyotype (46,XX). Clin Nephrol 51:62-63, 1999
-
(1999)
Clin Nephrol
, vol.51
, pp. 62-63
-
-
Tsuda, M.1
Owada, M.2
Tsuchiya, M.3
Murakami, M.4
Sakiyama, T.5
-
19
-
-
0032844181
-
Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female
-
19. DEMMER L, PRIMACK W, LOIK V, BROWN R, THERVILLE N, MCELREAVEY K: Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female. J Am Soc Nephrol 10:2215-2218, 1999
-
(1999)
J Am Soc Nephrol
, vol.10
, pp. 2215-2218
-
-
Demmer, L.1
Primack, W.2
Loik, V.3
Brown, R.4
Therville, N.5
McElreavey, K.6
-
20
-
-
0032913826
-
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumour
-
20. BARBOSA AS, HADJIATHANASIOU CG, THEODORIDIS C, PAPATHANASIOU A, TAR A, MERKSZ M, GYÖRVARI B, SULTAN C, DUMAS R, JAUBERT F, NIAUDET P, MOREIRA-FILHO CA, COTINOT C, FELLOUS M: The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumour. Hum Mutat 13:146-153, 1999
-
(1999)
Hum Mutat
, vol.13
, pp. 146-153
-
-
Barbosa, A.S.1
Hadjiathanasiou, C.G.2
Theodoridis, C.3
Papathanasiou, A.4
Tar, A.5
Merksz, M.6
Györvari, B.7
Sultan, C.8
Dumas, R.9
Jaubert, F.10
Niaudet, P.11
Moreira-Filho, C.A.12
Cotinot, C.13
Fellous, M.14
-
21
-
-
0033361892
-
Evidence for the genetic heterogeneity of nephrotic phenotypes associated with Denys-Drash and Frasier syndromes
-
21. KOZIELL AB, GRUNDY R, BARRATT TM, SCAMBLER P: Evidence for the genetic heterogeneity of nephrotic phenotypes associated with Denys-Drash and Frasier syndromes. Am J Hum Genet 64:1778-1781, 1999
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1778-1781
-
-
Koziell, A.B.1
Grundy, R.2
Barratt, T.M.3
Scambler, P.4
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