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Volumn 63, Issue 4, 2003, Pages 319-322

A submicroscopic deletion of 11p13 associated with the WAGR syndrome [1]

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; DNA FRAGMENT; TRANSCRIPTION FACTOR PAX6; WT1 PROTEIN;

EID: 0043133573     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00051.x     Document Type: Letter
Times cited : (2)

References (11)
  • 1
    • 78651152965 scopus 로고
    • Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations
    • Miller RW, Fraumeni JF Jr, Manning MD. Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 1964: 270: 922-927.
    • (1964) N. Engl. J. Med. , vol.270 , pp. 922-927
    • Miller, R.W.1    Fraumeni J.F., Jr.2    Manning, M.D.3
  • 2
    • 0017883401 scopus 로고
    • Chromosomal imbalance in the aniridia-Wilms' tumor association: 11p interstitial deletion
    • Riccardi VM, Sujansky E, Smith AC, Francke U. Chromosomal imbalance in the aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics 1978: 61: 604-610.
    • (1978) Pediatrics , vol.61 , pp. 604-610
    • Riccardi, V.M.1    Sujansky, E.2    Smith, A.C.3    Francke, U.4
  • 3
    • 0017848311 scopus 로고
    • Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: A clinicopathological case report
    • Anderson SR, Geertinger P, Larsen H-W et al. Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome 11: a clinicopathological case report. Ophthalmologica 1978: 176: 171-177.
    • (1978) Ophthalmologica , vol.176 , pp. 171-177
    • Anderson, S.R.1    Geertinger, P.2    Larsen, H.-W.3
  • 4
    • 0022667937 scopus 로고
    • Chromosomal deletions and enzyme deficiencies
    • Schmickel RD. Chromosomal deletions and enzyme deficiencies. J Pediatr 1986: 108: 244-246.
    • (1986) J. Pediatr. , vol.108 , pp. 244-246
    • Schmickel, R.D.1
  • 5
    • 0031035967 scopus 로고    scopus 로고
    • A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus
    • Crolla JA, Cawdery JE, Oley CA et al. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet 1997: 34: 207-212.
    • (1997) J. Med. Genet. , vol.34 , pp. 207-212
    • Crolla, J.A.1    Cawdery, J.E.2    Oley, C.A.3
  • 6
    • 0032076199 scopus 로고    scopus 로고
    • Polymerase chain reaction-based risk assessment for Wilms' tumor in sporadic aniridia
    • Gupta SK, De Becker I, Guernsey DL, Neumann PE. Polymerase chain reaction-based risk assessment for Wilms' tumor in sporadic aniridia. Am J Ophthalmol 1998: 125: 687-692.
    • (1998) Am. J. Ophthalmol. , vol.125 , pp. 687-692
    • Gupta, S.K.1    De Becker, I.2    Guernsey, D.L.3    Neumann, P.E.4
  • 8
    • 0031972063 scopus 로고    scopus 로고
    • Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
    • Kikuchi H, Takata A, Akasaka Y et al. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 1998: 35: 45-48.
    • (1998) J. Med. Genet. , vol.35 , pp. 45-48
    • Kikuchi, H.1    Takata, A.2    Akasaka, Y.3
  • 9
    • 0031978782 scopus 로고    scopus 로고
    • Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers
    • Martínez F, Tomas M, Millán JM, Fernández A, Palau F, Prieto F. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. J Med Genet 1998: 35: 284-287.
    • (1998) J. Med. Genet. , vol.35 , pp. 284-287
    • Martínez, F.1    Tomas, M.2    Millán, J.M.3    Fernández, A.4    Palau, F.5    Prieto, F.6
  • 10
    • 0031570335 scopus 로고    scopus 로고
    • Construction of a 1.2-Mb contig surrounding, and molecular analysis of the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3
    • Giles RH, Petrij F, Dauwerse HG et al. Construction of a 1.2-Mb contig surrounding, and molecular analysis of the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. Genomics 1997: 42: 96-114.
    • (1997) Genomics , vol.42 , pp. 96-114
    • Giles, R.H.1    Petrij, F.2    Dauwerse, H.G.3
  • 11
    • 0033764489 scopus 로고    scopus 로고
    • 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 2000: 11: S106-S115.
    • (2000) J. Am. Soc. Nephrol. , vol.11
    • Mrowka, C.1    Schedl, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.