-
1
-
-
0026094584
-
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome
-
Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L: Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67: 437-447, 1991
-
(1991)
Cell
, vol.67
, pp. 437-447
-
-
Pelletier, J.1
Bruening, W.2
Kashtan, C.E.3
Mauer, S.M.4
Manivel, J.C.5
Striegel, J.E.6
Houghton, D.C.7
Junien, C.8
Habib, R.9
Fouser, L.10
-
2
-
-
16944365351
-
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
-
Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, 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
Grünfeld, J.P.4
Jaubert, F.5
Kuttenn, F.6
Fékété, C.N.7
Souleyreau-Therville, N.8
Thibaud, E.9
Fellous, M.10
McElreavey, K.11
-
3
-
-
3242789449
-
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome
-
APN Study Group
-
Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F; APN Study Group: Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 66: 564-570, 2004
-
(2004)
Kidney Int
, vol.66
, pp. 564-570
-
-
Ruf, R.G.1
Schultheiss, M.2
Lichtenberger, A.3
Karle, S.M.4
Zalewski, I.5
Mucha, B.6
Everding, A.S.7
Neuhaus, T.8
Patzer, L.9
Plank, C.10
Haas, J.P.11
Ozaltin, F.12
Imm, A.13
Fuchshuber, A.14
Bakkaloglu, A.15
Hildebrandt, F.16
-
4
-
-
33646682170
-
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
-
Members of the APN Study Group
-
Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F; Members of the APN Study Group: Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res 59: 325-331, 2006
-
(2006)
Pediatr Res
, vol.59
, pp. 325-331
-
-
Mucha, B.1
Ozaltin, F.2
Hinkes, B.G.3
Hasselbacher, K.4
Ruf, R.G.5
Schultheiss, M.6
Hangan, D.7
Hoskins, B.E.8
Everding, A.S.9
Bogdanovic, R.10
Seeman, T.11
Hoppe, B.12
Hildebrandt, F.13
-
5
-
-
0014775569
-
A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease
-
Drash A, Sherman F, Hartmann WH, Blizzard RM: A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 76: 585-593, 1970
-
(1970)
J Pediatr
, vol.76
, pp. 585-593
-
-
Drash, A.1
Sherman, F.2
Hartmann, W.H.3
Blizzard, R.M.4
-
6
-
-
33748702059
-
WT1 and glomerular diseases
-
Niaudet P, Gubler MC: WT1 and glomerular diseases. Pediatr Nephrol 21: 1653-1660, 2006
-
(2006)
Pediatr Nephrol
, vol.21
, pp. 1653-1660
-
-
Niaudet, P.1
Gubler, M.C.2
-
7
-
-
0022357227
-
The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): A distinctive glomerular lesion - Report of 10 cases
-
Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M: The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): A distinctive glomerular lesion - report of 10 cases. Clin Nephrol 24: 269-278, 1985
-
(1985)
Clin Nephrol
, vol.24
, pp. 269-278
-
-
Habib, R.1
Loirat, C.2
Gubler, M.C.3
Niaudet, P.4
Bensman, A.5
Levy, M.6
Broyer, M.7
-
8
-
-
0030891372
-
A clinical overview of WT1 gene mutations
-
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
-
9
-
-
0033764489
-
Wilms' tumor suppressor gene WT1: From structure to renal pathophysiologic features
-
Mrowka C, Schedl A: Wilms' tumor suppressor gene WT1: From structure to renal pathophysiologic features. J Am Soc Nephrol 11: S106-S115, 2000
-
(2000)
J Am Soc Nephrol
, vol.11
-
-
Mrowka, C.1
Schedl, A.2
-
10
-
-
0026907525
-
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome
-
Baird PN, Santos A, Groves N, Jadresic L, Cowell JK: Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. Hum Mol Genet 1: 301-305, 1992
-
(1992)
Hum Mol Genet
, vol.1
, pp. 301-305
-
-
Baird, P.N.1
Santos, A.2
Groves, N.3
Jadresic, L.4
Cowell, J.K.5
-
11
-
-
0031922880
-
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
-
DOI 10.1093/hmg/7.4.709
-
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 (Pubitemid 28152270)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.4
, pp. 709-714
-
-
Klamt, B.1
Koziell, A.2
Poulat, F.3
Wieacker, P.4
Scambler, P.5
Berta, P.6
Gessler, M.7
-
12
-
-
0347917077
-
Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene
-
DOI 10.1093/ndt/gfg473
-
Hu M, Zhang GY, Arbuckle S, Graf N, Shun A, Silink M, Lewis D, Alexander SI: Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. Nephrol Dial Transplant 19: 223-226, 2004 (Pubitemid 38072637)
-
(2004)
Nephrology Dialysis Transplantation
, vol.19
, Issue.1
, pp. 223-226
-
-
Hu, M.1
Zhang, G.Y.2
Arbuckle, S.3
Graf, N.4
Shun, A.5
Silink, M.6
Lewis, D.7
Alexander, S.I.8
-
13
-
-
33750739776
-
Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: A case report
-
Love JD, DeMartini SD, Coppola CP: Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: A case report. J Pediatr Surg 41: e1-e4, 2006
-
(2006)
J Pediatr Surg
, vol.41
-
-
Love, J.D.1
DeMartini, S.D.2
Coppola, C.P.3
-
14
-
-
10744226566
-
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome
-
Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group
-
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 Für Pädiatrische Nephrologie Study Group: Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15: 722-732, 2004
-
(2004)
J Am Soc Nephrol
, vol.15
, pp. 722-732
-
-
Ruf, R.G.1
Lichtenberger, A.2
Karle, S.M.3
Haas, J.P.4
Anacleto, F.E.5
Schultheiss, M.6
Zalewski, I.7
Imm, A.8
Ruf, E.M.9
Mucha, B.10
Bagga, A.11
Neuhaus, T.12
Fuchshuber, A.13
Bakkaloglu, A.14
Hildebrandt, F.15
-
15
-
-
34147096001
-
Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)
-
Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group
-
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F: Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group: Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119: e907-e919, 2007
-
(2007)
Pediatrics
, vol.119
-
-
Hinkes, B.G.1
Mucha, B.2
Vlangos, C.N.3
Gbadegesin, R.4
Liu, J.5
Hasselbacher, K.6
Hangan, D.7
Ozaltin, F.8
Zenker, M.9
Hildebrandt, F.10
-
16
-
-
42949101458
-
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)
-
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F: Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23: 1291-1297, 2008
-
(2008)
Nephrol Dial Transplant
, vol.23
, pp. 1291-1297
-
-
Gbadegesin, R.1
Hinkes, B.G.2
Hoskins, B.E.3
Vlangos, C.N.4
Heeringa, S.F.5
Liu, J.6
Loirat, C.7
Ozaltin, F.8
Hashmi, S.9
Ulmer, F.10
Cleper, R.11
Ettenger, R.12
Antignac, C.13
Wiggins, R.C.14
Zenker, M.15
Hildebrandt, F.16
-
17
-
-
67349134171
-
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1
-
Bockenhauer D, van't Hoff W, Chernin G, Heeringa SF, Sebire NJ: Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1. Pediatr Nephrol 24: 1399-1401, 2009
-
(2009)
Pediatr Nephrol
, vol.24
, pp. 1399-1401
-
-
Bockenhauer, D.1
Van't Hoff, W.2
Chernin, G.3
Heeringa, S.F.4
Sebire, N.J.5
-
18
-
-
0019767056
-
Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A report of the international study of kidney disease in children
-
International study of kidney disease in children: Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity: A report of the International Study of kidney disease in children. Kidney Int 20: 765-771, 1981 (Pubitemid 12169014)
-
(1981)
Kidney International
, vol.20
, Issue.6
, pp. 765-771
-
-
Barnett, H.L.1
Edelmann Jr., C.M.2
Greifer, I.3
-
19
-
-
67349211906
-
Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children
-
Arbeitsgemeinschaft für Pädiatrische Nephrologie
-
Arbeitsgemeinschaft für Pädiatrische Nephrologie: Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Lancet 1: 380-383, 1988
-
(1988)
Lancet
, vol.1
, pp. 380-383
-
-
-
20
-
-
7144261709
-
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations
-
Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz- Bröking E, Bulla M, Tondera 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
Tondera, A.M.11
Mundel, P.12
Helmchen, U.13
Waldherr, R.14
Weirich, A.15
Royer-Pokora, B.16
-
21
-
-
0032763264
-
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome
-
Kohsaka T, Tagawa M, Takekoshi Y, Yanagisawa H, Tadokoro K, Yamada M: Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. Hum Mutat 14: 466-470, 1999
-
(1999)
Hum Mutat
, vol.14
, pp. 466-470
-
-
Kohsaka, T.1
Tagawa, M.2
Takekoshi, Y.3
Yanagisawa, H.4
Tadokoro, K.5
Yamada, M.6
-
22
-
-
0032913826
-
The same mutation affecting the splicing of WT1 gene is present on frasier syndrome patients with or without Wilms' tumor
-
DOI 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I
-
Barbosa AS, Hadjiathanasiou CG, Theodoridis C, Papathanasiou A, Tar A, Merksz M, Györvári 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' tumor. Hum Mutat 13: 146-153, 1999 (Pubitemid 29059154)
-
(1999)
Human Mutation
, vol.13
, Issue.2
, pp. 146-153
-
-
Barbosa, A.S.1
Hadjiathanasiou, C.G.2
Theodoridis, C.3
Papathanasiou, A.4
Tar, A.5
Merksz, M.6
Gyorvari, 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
-
23
-
-
0344629381
-
46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation
-
DOI 10.1159/000074249
-
Tajima T, Sasaki S, Tanaka Y, Kusunoki H, Nagashima T, Nonomura K, Fujieda K: 46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation. Horm Res 60: 302-305, 2003 (Pubitemid 37499950)
-
(2003)
Hormone Research
, vol.60
, Issue.6
, pp. 302-305
-
-
Tajima, T.1
Sasaki, S.2
Tanaka, Y.3
Kusunoki, H.4
Nagashima, T.5
Nonomura, K.6
Fujieda, K.7
-
24
-
-
0036086228
-
An unusual phenotype of Frasier syndrome due to IVS9 + 4 C>T mutation in the WT1 gene: Predominantly male ambiguous genitalia and absence of gonadal dysgenesis
-
Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB: An unusual phenotype of Frasier syndrome due to IVS9 + 4 C>T mutation in the WT1 gene: Predominantly male ambiguous genitalia and absence of gonadal dysgenesis. J Clin Endocrinol Metab 87: 2500-2505, 2002
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2500-2505
-
-
Melo, K.F.1
Martin, R.M.2
Costa, E.M.3
Carvalho, F.M.4
Jorge, A.A.5
Arnhold, I.J.6
Mendonca, B.B.7
-
25
-
-
0032824381
-
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases
-
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 (Pubitemid 29453501)
-
(1999)
Journal of the American Society of Nephrology
, vol.10
, Issue.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
-
26
-
-
2542500349
-
A review of the phenotypic variation due to the Denys- Drash syndrome-associated germline WT1 mutation R362X
-
Heathcott RW, Morison IM, Gubler MC, Corbett R, Reeve AE: A review of the phenotypic variation due to the Denys- Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat 19: 462, 2002
-
(2002)
Hum Mutat
, vol.19
, pp. 462
-
-
Heathcott, R.W.1
Morison, I.M.2
Gubler, M.C.3
Corbett, R.4
Reeve, A.E.5
-
27
-
-
0030889197
-
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology
-
DOI 10.1073/pnas.94.8.3972
-
Schumacher V, Schneider S, Figge A, Wildhardt G, Harms D, Schmidt D, Weirich A, Ludwig R, Royer-Pokora B: Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc Natl Acad Sci USA 15: 3972-3977, 1997 (Pubitemid 27180483)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.8
, pp. 3972-3977
-
-
Schumacher, V.1
Schneider, S.2
Figge, A.3
Wildhardt, G.4
Harms, D.5
Schmidt, D.6
Weirich, A.7
Ludwig, R.8
Royer-Pokora, B.9
-
28
-
-
2542462400
-
Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development
-
Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V: Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development. Am J Med Genet A 15: 249-257, 2004 (Pubitemid 38685865)
-
(2004)
American Journal of Medical Genetics
, vol.127
, Issue.3
, pp. 249-257
-
-
Royer-Pokora, B.1
Beier, M.2
Henzler, M.3
Alam, R.4
Schumacher, V.5
Weirich, A.6
Huff, V.7
-
29
-
-
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
-
Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cécille 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
Cécille, A.6
Elion, J.7
Peuchmaur, M.8
Loirat, C.9
Niaudet, P.10
Gubler, M.C.11
Junien, C.12
-
30
-
-
38149091915
-
Genetic testing and tumor surveillance for children with cancer predisposition syndromes
-
Rao A, Rothman J, Nichols KE: Genetic testing and tumor surveillance for children with cancer predisposition syndromes. Curr Opin Pediatr 20: 1-7, 2008
-
(2008)
Curr Opin Pediatr
, vol.20
, pp. 1-7
-
-
Rao, A.1
Rothman, J.2
Nichols, K.E.3
-
31
-
-
0038501057
-
American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility
-
American Society of Clinical Oncology
-
American Society of Clinical Oncology: American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 21: 2397-2406, 2003
-
(2003)
J Clin Oncol
, vol.21
, pp. 2397-2406
-
-
-
32
-
-
0021875791
-
Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): Frequency in end-stage renal failure
-
Eddy AA, Mauer SM: Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): Frequency in end-stage renal failure. J Pediatr 106: 584-587, 1985
-
(1985)
J Pediatr
, vol.106
, pp. 584-587
-
-
Eddy, A.A.1
Mauer, S.M.2
-
33
-
-
67349271546
-
Residual renal function and nutrition in young patients on chronic hemodialysis
-
Guzzo I, Mancini E, Wafo SK, Ravà L, Picca S: Residual renal function and nutrition in young patients on chronic hemodialysis. Pediatr Nephrol 24: 1391-1397, 2009
-
(2009)
Pediatr Nephrol
, vol.24
, pp. 1391-1397
-
-
Guzzo, I.1
Mancini, E.2
Wafo, S.K.3
Ravà, L.4
Picca, S.5
-
34
-
-
33745782946
-
How to preserve residual renal function in patients with chronic kidney disease and on dialysis
-
Krediet RT: How to preserve residual renal function in patients with chronic kidney disease and on dialysis. Nephrol Dial Transplant 21[Suppl 2]: ii42-ii46, 2006
-
(2006)
Nephrol Dial Transplant
, vol.21
, Issue.SUPPL. 2
-
-
Krediet, R.T.1
|