-
1
-
-
0014119131
-
Association d'un syndrome anatomo-pathologique de pseudohermaphroditisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY
-
Denys P, Malvaux P, Van den Berghe H, Tangue W, Proesmans W (1967) Association d'un syndrome anatomo-pathologique de pseudohermaphroditisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY. Arch Fr Pediatr 24:729 739
-
(1967)
Arch. Fr. Pediatr.
, vol.24
, pp. 729-739
-
-
Denys, P.1
Malvaux, P.2
Van den Berghe, H.3
Tangue, W.4
Proesmans, W.5
-
2
-
-
0014775569
-
A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease
-
Drash A, Sherman F, Hartman WH, Blizzard RM (1970) A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease. J Pediatr 76:585 593
-
(1970)
J. Pediatr.
, vol.76
, pp. 585-593
-
-
Drash, A.1
Sherman, F.2
Hartman, W.H.3
Blizzard, R.M.4
-
3
-
-
0000786264
-
Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins
-
Frasier SD, Bashore RA, Mosier HD (1964) Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 64:740 745
-
(1964)
J. Pediatr.
, vol.64
, pp. 740-745
-
-
Frasier, S.D.1
Bashore, R.A.2
Mosier, H.D.3
-
4
-
-
0023477994
-
Chronic rena1 failure and XY gonadal dysgenesis: "Frasier" syndrome a commentary on reported cases
-
Moorthy AV, Chesney RW, Lubinsky M (1987) Chronic rena1 failure and XY gonadal dysgenesis: "Frasier" syndrome a commentary on reported cases. Am J Med Genet 3:297 302
-
(1987)
Am. J. Med. Genet.
, vol.3
, pp. 297-302
-
-
Moorthy, A.V.1
Chesney, R.W.2
Lubinsky, M.3
-
5
-
-
0034062236
-
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?
-
Koziell A, Charmandari E, Hindmarsh PC, Rees L, Scambler P, Brook CGD (2000) Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? Clin Endocrinol (Oxf) 52:519 524
-
(2000)
Clin. Endocrinol. (Oxf)
, vol.52
, pp. 519-524
-
-
Koziell, A.1
Charmandari, E.2
Hindmarsh, P.C.3
Rees, L.4
Scambler, P.5
Brook, C.G.D.6
-
6
-
-
0035059468
-
Clinical spectrum of Denys-Drash and Frasier syndrome
-
McTaggart SJ, Algar E, Chow CW, Powell HR, Jones CL (2001) Clinical spectrum of Denys-Drash and Frasier syndrome. Pediatr Nephrol 16:335 339
-
(2001)
Pediatr. Nephrol.
, vol.16
, pp. 335-339
-
-
McTaggart, S.J.1
Algar, E.2
Chow, C.W.3
Powell, H.R.4
Jones, C.L.5
-
7
-
-
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 D, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437 447
-
(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.7
Junien, C.8
Habib, R.9
Fouser, L.10
Fine, R.N.11
Silverman, B.L.12
Haber, D.A.13
Housman, D.14
-
8
-
-
16944365351
-
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
-
Barbaux 5, Niaudet P, Gubler MC, Grundfeld J-P, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K (1997) Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467 470
-
(1997)
Nat. Genet.
, vol.17
, pp. 467-470
-
-
Barbaux, S.1
Niaudet, P.2
Gubler, M.C.3
Grundfeld, J.-P.4
Jaubert, F.5
Kuttenn, F.6
Fekete, C.N.7
Souleyreau-Therville, N.8
Thibaud, E.9
Fellous, M.10
McElreavey, K.11
-
9
-
-
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 (1999) Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. Hum Mutat 14:466 470
-
(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
-
10
-
-
0030889197
-
Correlation of germ-line mutations and two hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology
-
Schumacher V, Schneider S, Figge A, Wildhardt G, Harms D, Schmidt D, Weirich A, Ludwig R, Royer-Pokora B (1997) Correlation of germ-line mutations and two hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc Natl Acad Sci 94:3972 3977
-
(1997)
Proc. Natl. Acad. Sci.
, vol.94
, 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
-
11
-
-
0031922880
-
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/- KTS splice isoforms
-
Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M (1998) 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)
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
-
12
-
-
0027209712
-
The WT1 Wilms tumor gene product: A developmentally regulated transcription factor in the kidney that functions as a tumor suppressor
-
Rauscher FJ (1993) The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor. FASEB J 7:896 903
-
(1993)
FASEB J.
, vol.7
, pp. 896-903
-
-
Rauscher, F.J.1
-
13
-
-
7144261709
-
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations
-
Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel K-E, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Bröking E, Bulla M, Tondera A-M, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B (1998) Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 53:1594 1600
-
(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
-
14
-
-
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 (1985) 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)
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
-
15
-
-
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, Peuchemaur M, Loirat C, Niaudet P, Gubler MC, Junien C (1998) 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)
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
Peuchemaur, M.8
Loirat, C.9
Niaudet, P.10
Gubler, M.C.11
Junien, C.12
-
16
-
-
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 (2002) A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat 19:462
-
(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
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