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Volumn 2, Issue 3, 1998, Pages 188-190

Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter)

Author keywords

[No Author keywords available]

Indexed keywords

ANTERIOR EYE SEGMENT; ARTICLE; CASE REPORT; CHROMOSOME 1; CONGENITAL MALFORMATION; EYE MALFORMATION; FEMALE; GENETICS; HUMAN; INFANT; KARYOTYPING; OPEN ANGLE GLAUCOMA; TRISOMY;

EID: 0032083381     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1091-8531(98)90014-3     Document Type: Article
Times cited : (7)

References (15)
  • 1
    • 0017327864 scopus 로고
    • Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
    • Steffensen DM, Chu EHY, Speert DP, Wall PM, Meilinger K, Kelch RP. Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum Genet 1977;36:25-33.
    • (1977) Hum Genet , vol.36 , pp. 25-33
    • Steffensen, D.M.1    Chu, E.H.Y.2    Speert, D.P.3    Wall, P.M.4    Meilinger, K.5    Kelch, R.P.6
  • 2
    • 0018485655 scopus 로고
    • Partial trisomy 1q due to tandem duplication
    • Flatz S, Fonatsch C. Partial trisomy 1q due to tandem duplication. Clin Genet 1979;15:541-2.
    • (1979) Clin Genet , vol.15 , pp. 541-542
    • Flatz, S.1    Fonatsch, C.2
  • 3
  • 4
    • 0028271635 scopus 로고
    • Congenital ocular defects associated with an abnormality of the human chromosome 1: Trisomy 1q32-qter
    • Clark BJ, Lowther GW, Lee WR. Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. J Pediatr Ophthalmol Strabismus 1994;31:41-5.
    • (1994) J Pediatr Ophthalmol Strabismus , vol.31 , pp. 41-45
    • Clark, B.J.1    Lowther, G.W.2    Lee, W.R.3
  • 5
    • 84907115618 scopus 로고
    • Oxidative stress in trisomy 21: A possible role of cataractogenesis
    • Bras A, Monteiro C, Rueff J. Oxidative stress in trisomy 21: a possible role of cataractogenesis. Ophthalmic Paediatr Genet 1989;10:271-7.
    • (1989) Ophthalmic Paediatr Genet , vol.10 , pp. 271-277
    • Bras, A.1    Monteiro, C.2    Rueff, J.3
  • 8
    • 0023615497 scopus 로고
    • Clinical variability of partial duplication 1q: A clinical paper and literature review
    • Rosenthal J, Abeliovich D, Carmi R. Clinical variability of partial duplication 1q: a clinical paper and literature review. Am J Med Genet 1987;27:787-92.
    • (1987) Am J Med Genet , vol.27 , pp. 787-792
    • Rosenthal, J.1    Abeliovich, D.2    Carmi, R.3
  • 12
    • 0028880039 scopus 로고
    • Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity
    • Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995;30:171-7.
    • (1995) Genomics , vol.30 , pp. 171-177
    • Sarfarazi, M.1    Akarsu, A.N.2    Hossain, A.3    Turacli, M.E.4    Aktan, S.G.5    Barsoum-Homsy, M.6
  • 13
    • 0029091048 scopus 로고
    • Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)
    • Heon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, et al. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 1995;4:1435-9.
    • (1995) Hum Mol Genet , vol.4 , pp. 1435-1439
    • Heon, E.1    Sheth, B.P.2    Kalenak, J.W.3    Sunden, S.L.4    Streb, L.M.5    Taylor, C.M.6
  • 15
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    • Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet 1994;6:168-73.
    • (1994) Nature Genet , vol.6 , pp. 168-173
    • Hanson, I.M.1    Fletcher, J.M.2    Jordan, T.3    Brown, A.4    Taylor, D.5    Adams, R.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.