메뉴 건너뛰기




Volumn 35, Issue 10, 1998, Pages 806-812

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies

Author keywords

Coloboma; PAX2; Renal coloboma syndrome; Vesicoureteric reflux

Indexed keywords

DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

EID: 0031691918     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.10.806     Document Type: Article
Times cited : (64)

References (13)
  • 1
    • 0019379794 scopus 로고
    • Ocular coloboma
    • Pagon RA. Ocular coloboma. Surv Ophthalmol 1981;25:223-36.
    • (1981) Surv Ophthalmol , vol.25 , pp. 223-236
    • Pagon, R.A.1
  • 2
    • 0017751378 scopus 로고
    • Zum krankheitsbild der Handmannschen sehnervenanomalie: Windenbluten- (Morning Glory) syndrom?
    • Reiger G. Zum krankheitsbild der Handmannschen sehnervenanomalie: windenbluten- (Morning Glory) syndrom? Klin Mbl Augenheilkd 1977;170:697-706.
    • (1977) Klin Mbl Augenheilkd , vol.170 , pp. 697-706
    • Reiger, G.1
  • 3
    • 0018629417 scopus 로고
    • Zum Morning Glory syndrom
    • Karcher H. Zum Morning Glory syndrom. Klin Mbl Augen-heilkd 1979;175:835-40.
    • (1979) Klin Mbl Augen-heilkd , vol.175 , pp. 835-840
    • Karcher, H.1
  • 5
    • 84907115897 scopus 로고
    • Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature
    • Bron AJ, Burgess SE, Awdry PN, Oliver D, Arden G. Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature. Ophthal Paediatr Genet 1989;10:185-98.
    • (1989) Ophthal Paediatr Genet , vol.10 , pp. 185-198
    • Bron, A.J.1    Burgess, S.E.2    Awdry, P.N.3    Oliver, D.4    Arden, G.5
  • 6
    • 0026572290 scopus 로고
    • Sindrome de "ojo de gato" con agenesia renal derecha. Aportacion de un caso y revision de la literatura
    • Legros V, Carrenard JR, Cortes FM, Sanchez JM. Sindrome de "ojo de gato" con agenesia renal derecha. Aportacion de un caso y revision de la literatura. An Esp Pediatr 1992;36: 317-19.
    • (1992) An Esp Pediatr , vol.36 , pp. 317-319
    • Legros, V.1    Carrenard, J.R.2    Cortes, F.M.3    Sanchez, J.M.4
  • 8
    • 0019425377 scopus 로고
    • Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
    • Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981;99:223-7.
    • (1981) J Pediatr , vol.99 , pp. 223-227
    • Pagon, R.A.1    Graham Jr., J.M.2    Zonana, J.3    Yong, S.L.4
  • 10
    • 0024593027 scopus 로고
    • Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
    • Verloes A, Lambotte C. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet 1989;32:227-32.
    • (1989) Am J Med Genet , vol.32 , pp. 227-232
    • Verloes, A.1    Lambotte, C.2
  • 11
    • 0021220678 scopus 로고
    • Acro-renal-ocular syndrome: Autosomal dominant thumb hypoplasia, renal ectopia, and eye defect
    • Halal F, Homsy M, Perreault G. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet 1984;17:753-62.
    • (1984) Am J Med Genet , vol.17 , pp. 753-762
    • Halal, F.1    Homsy, M.2    Perreault, G.3
  • 12
    • 0002326109 scopus 로고
    • Congenital coloboma of the macula, together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet
    • Sorsby A. Congenital coloboma of the macula, together with an account of the familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthalmol 1935;19:65-90.
    • (1935) Br J Ophthalmol , vol.19 , pp. 65-90
    • Sorsby, A.1
  • 13
    • 0029887051 scopus 로고    scopus 로고
    • Colobomatous microphthalmia with midfacial clefting: Part of the spectrum of branchio-oculo-facial syndrome?
    • Richardson E, Davison C, Moore A. Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? Ophthal Genet 1996;17:59-65.
    • (1996) Ophthal Genet , vol.17 , pp. 59-65
    • Richardson, E.1    Davison, C.2    Moore, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.