-
1
-
-
0025099787
-
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
-
Call KM, Glaser T, Ito Y, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, Jones C, Hoffmann DE (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60: 509-520.
-
(1990)
Cell
, vol.60
, pp. 509-520
-
-
Call, K.M.1
Glaser, T.2
Ito, Y.3
Buckler, A.J.4
Pelletier, J.5
Haber, D.A.6
Rose, E.A.7
Kral, A.8
Yeger, H.9
Lewis, W.H.10
Jones, C.11
Hoffmann, D.E.12
-
2
-
-
0026094584
-
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Deny-Drash syndrome
-
Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L (1991) Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Deny-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.C.7
Junien, C.8
Habib, R.9
Fouser, L.10
-
3
-
-
0026864939
-
Germline mutations in the Wilms' tumor gene (WT1) affecting urogenital development
-
Bruening W, Bardeesy N, Silnerman BL, Cohn RA, Machin GA, Aronson AJ, Housman D, and Pelletier J (1992) Germline mutations in the Wilms' tumor gene (WT1) affecting urogenital development. Nature Genet 1: 144-148.
-
(1992)
Nature Genet
, vol.1
, pp. 144-148
-
-
Bruening, W.1
Bardeesy, N.2
Silnerman, B.L.3
Cohn, R.A.4
Machin, G.A.5
Aronson, A.J.6
Housman, D.7
Pelletier, J.8
-
4
-
-
0000786264
-
Gonado-blastoma associated with pure gonadal dysgenesis in monozygous twin
-
Frasier SD, Bashore RA, Moiser HD (1964) Gonado-blastoma associated with pure gonadal dysgenesis in monozygous twin. J Pediatr 64: 740-745.
-
(1964)
J Pediatr
, vol.64
, pp. 740-745
-
-
Frasier, S.D.1
Bashore, R.A.2
Moiser, H.D.3
-
5
-
-
0023477994
-
Chronic renal failure and XY gonadal dysgenesis; Frasier syndrome a commentary on reported cases
-
Moorthy AV, Chesney RW, Lubinsky M (1987) Chronic renal failure and XY gonadal dysgenesis; Frasier syndrome a commentary on reported cases. Am J Med Genet (suppl) 3: 297-302.
-
(1987)
Am J Med Genet
, vol.3
, Issue.SUPPL.
, pp. 297-302
-
-
Moorthy, A.V.1
Chesney, R.W.2
Lubinsky, M.3
-
6
-
-
0023357675
-
Nephropathy-gonadal dysgenesis, type 2: Renal failure in three siblings with XY dysgenesis in one
-
Kinberg JA, Angle CR, Wilson RB (1987) Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one. Am J Kidney Dis 9: 507-510.
-
(1987)
Am J Kidney Dis
, vol.9
, pp. 507-510
-
-
Kinberg, J.A.1
Angle, C.R.2
Wilson, R.B.3
-
7
-
-
0026656263
-
Endo stage renal disease and primary hypogonadism associated with 46 XX karyotype
-
Bailey WA, Zwingman TA, Reznik VM, Griswold WR, Mendonza SA, Jones KL, Freidenberg GR (1992) Endo stage renal disease and primary hypogonadism associated with 46 XX karyotype. Am J Dis Child 146: 1218-1233.
-
(1992)
Am J Dis Child
, vol.146
, pp. 1218-1233
-
-
Bailey, W.A.1
Zwingman, T.A.2
Reznik, V.M.3
Griswold, W.R.4
Mendonza, S.A.5
Jones, K.L.6
Freidenberg, G.R.7
-
8
-
-
16944365351
-
Donor splice site mutations in WT1 are responsible for Frasier syndrome
-
Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kutenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K (1997) Donor splice site mutations in WT1 are responsible for Frasier syndrome. Nature Genet 17: 467-470.
-
(1997)
Nature Genet
, vol.17
, pp. 467-470
-
-
Barbaux, S.1
Niaudet, P.2
Gubler, M.C.3
Grunfeld, J.P.4
Jaubert, F.5
Kutenn, F.6
Fekete, C.N.7
Souleyreau-Therville, N.8
Thibaud, E.9
Fellous, M.10
McElreavey, K.11
-
9
-
-
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
-
10
-
-
0031972063
-
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
-
Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J (1998) Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 35: 45-48.
-
(1998)
J Med Genet
, vol.35
, pp. 45-48
-
-
Kikuchi, H.1
Takata, A.2
Akasaka, Y.3
Fukuzawa, R.4
Yoneyama, H.5
Kurosawa, Y.6
Honda, M.7
Kamiyama, Y.8
Hata, J.9
-
11
-
-
8244237727
-
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
-
Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, Igarashi N, Igarashi Y, Ishii T, Koda N, Kondo T, Kohno H, Nakagawa Y, Tachibana K, Takeshima Y, Tsubouchi K, Strauss III JF, Fujieda K (1997) Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet 6: 571-576.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 571-576
-
-
Nakae, J.1
Tajima, T.2
Sugawara, T.3
Arakane, F.4
Hanaki, K.5
Hotsubo, T.6
Igarashi, N.7
Igarashi, Y.8
Ishii, T.9
Koda, N.10
Kondo, T.11
Kohno, H.12
Nakagawa, Y.13
Tachibana, K.14
Takeshima, Y.15
Tsubouchi, K.16
Strauss J.F. III17
Fujieda, K.18
-
12
-
-
0029071508
-
Subnuclear localization of WT1 in splicing or transcriptional factor domains is regulated by alternative splicing
-
Larsson SH, Charlieu J-P, Miyagawa K, Engelkamp D, Rassoulzadegan M, Ross A, Cuzin F (1995) Subnuclear localization of WT1 in splicing or transcriptional factor domains is regulated by alternative splicing. Cell 81: 391-401.
-
(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, F.7
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