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Volumn 87, Issue 1, 2009, Pages 52-57

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum

Author keywords

Anterior segment dysgenesis; CYP1B1; Microcornea; PAX; Peters' anomaly

Indexed keywords

CYTOCHROME P450 1B1; DNA MARKER; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR MAF; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX2;

EID: 58849119919     PISSN: 1755375X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0420.2007.01082.x     Document Type: Article
Times cited : (7)

References (22)
  • 2
    • 25444504573 scopus 로고    scopus 로고
    • A compound heterozygous change found in Peters' anomaly
    • Churchill AJ Yeung A (2005 A compound heterozygous change found in Peters' anomaly. Mol Vis 21 : 66 70.
    • (2005) Mol Vis , vol.21 , pp. 66-70
    • Churchill, A.J.1    Yeung, A.2
  • 5
    • 11144294168 scopus 로고    scopus 로고
    • Anterior segment development relevant to glaucoma
    • Gould DB, Smith RS John SW (2004 Anterior segment development relevant to glaucoma. Int J Dev Biol 48 : 1015 1029.
    • (2004) Int J Dev Biol , vol.48 , pp. 1015-1029
    • Gould, D.B.1    Smith, R.S.2    John, S.W.3
  • 6
    • 84907115386 scopus 로고
    • Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene
    • Green JS Johnson GJ (1986 Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene. Ophthalmic Paediatr Genet 7 : 187 194.
    • (1986) Ophthalmic Paediatr Genet , vol.7 , pp. 187-194
    • Green, J.S.1    Johnson, G.J.2
  • 9
    • 0020043627 scopus 로고
    • Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations
    • Hittner HM, Kretzer FL, Antoszyk JH, Ferrel RE Mehta RS (1982 Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Am J Ophthalmol 93 : 57 70.
    • (1982) Am J Ophthalmol , vol.93 , pp. 57-70
    • Hittner, H.M.1    Kretzer, F.L.2    Antoszyk, J.H.3    Ferrel, R.E.4    Mehta, R.S.5
  • 11
    • 0037373710 scopus 로고    scopus 로고
    • A family with Axenfeld-Rieger syndrome and Peters' anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene
    • Honkanen RA, Nishimura DY, Swiderski RE et al. (2003 A family with Axenfeld-Rieger syndrome and Peters' anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol 135 : 368 375.
    • (2003) Am J Ophthalmol , vol.135 , pp. 368-375
    • Honkanen, R.A.1    Nishimura, D.Y.2    Swiderski, R.E.3
  • 12
    • 0036156544 scopus 로고    scopus 로고
    • Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
    • Jamieson RV, Perveen R, Kerr B et al. (2002 Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 11 : 33 42.
    • (2002) Hum Mol Genet , vol.11 , pp. 33-42
    • Jamieson, R.V.1    Perveen, R.2    Kerr, B.3
  • 13
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM Lalouel JM (1984 Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36 : 460 465.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 17
    • 0002621289 scopus 로고
    • Ueber angeborene Defktbildung der Descemetschen Membran
    • Peters A (1906 Ueber angeborene Defktbildung der Descemetschen Membran. Klin Monatsbl Augenheilkd 44 : 27 40.
    • (1906) Klin Monatsbl Augenheilkd , vol.44 , pp. 27-40
    • Peters, A.1
  • 18
    • 0031811116 scopus 로고    scopus 로고
    • A novel homeobox gene PIX3 is mutated in families with autosomal-dominant cataracts and ASMD
    • Semina EV, Ferrell RE, Mintz-Hittner HA et al. (1998 A novel homeobox gene PIX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet 19 : 167 170.
    • (1998) Nat Genet , vol.19 , pp. 167-170
    • Semina, E.V.1    Ferrell, R.E.2    Mintz-Hittner, H.A.3
  • 19
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome2p21
    • Stoilov I, Akarsu AN Sarfarazi M (1997 Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome2p21. Hum Mol Genet 6 : 641 647.
    • (1997) Hum Mol Genet , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 20
    • 17344368983 scopus 로고    scopus 로고
    • Sequence analysis and homology modelling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
    • Stoilov I, Akarsu AN, Alozie I et al. (1998 Sequence analysis and homology modelling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 62 : 573 584.
    • (1998) Am J Hum Genet , vol.62 , pp. 573-584
    • Stoilov, I.1    Akarsu, A.N.2    Alozie, I.3
  • 21
    • 0035039383 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of CYP1B1: Mutations in a patient with Peters' anomaly
    • Vincent A, Billingsley G, Priston M et al. (2001 Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet 38 : 324 326.
    • (2001) J Med Genet , vol.38 , pp. 324-326
    • Vincent, A.1    Billingsley, G.2    Priston, M.3
  • 22
    • 0033005162 scopus 로고    scopus 로고
    • Autosomal dominant cataracts and Peters' anomaly in a large Australian family
    • Withers SJ, Gole GA Summers KM (1999 Autosomal dominant cataracts and Peters' anomaly in a large Australian family. Clin Genet 55 : 240 247.
    • (1999) Clin Genet , vol.55 , pp. 240-247
    • Withers, S.J.1    Gole, G.A.2    Summers, K.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.