메뉴 건너뛰기




Volumn 17, Issue , 2011, Pages 1624-1640

Chromosome abnormalities and the genetics of congenital corneal opacification

Author keywords

[No Author keywords available]

Indexed keywords

BETA 1,3 GLUCOSYLTRANSFERASE; CYTOCHROME P450 1B1; DECORIN; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FORKHEAD TRANSCRIPTION FACTOR; GLUCOSYLTRANSFERASE; HOMEODOMAIN PROTEIN; KERATOCAN; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR FOXE3; TRANSCRIPTION FACTOR MAF; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX2; TRANSCRIPTION FACTOR PITX3; TRANSCRIPTION FACTOR RAX; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

EID: 79960006207     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (36)

References (171)
  • 1
    • 0036147021 scopus 로고    scopus 로고
    • Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy
    • PMID: 11801506
    • Nischal KK, Naor J, Jay V, MacKeen LD, Rootman DS. Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy. Br J Ophthalmol 2002; 86:62-69. [PMID: 11801506]
    • (2002) Br J Ophthalmol , vol.86 , pp. 62-69
    • Nischal, K.K.1    Naor, J.2    Jay, V.3    Mackeen, L.D.4    Rootman, D.S.5
  • 2
    • 35148825026 scopus 로고    scopus 로고
    • Congenital corneal opacities - a surgical approach to nomenclature and classification
    • PMID: 17914436
    • Nischal KK. Congenital corneal opacities - a surgical approach to nomenclature and classification. Eye (Lond) 2007; 21:1326-1337. [PMID: 17914436]
    • (2007) Eye (Lond) , vol.21 , pp. 1326-1337
    • Nischal, K.K.1
  • 3
    • 35148864722 scopus 로고    scopus 로고
    • Molecular and developmental mechanisms of anterior segment dysgenesis
    • PMID: 17914434
    • Sowden JC. Molecular and developmental mechanisms of anterior segment dysgenesis. Eye (Lond) 2007; 21:1310-1318. [PMID: 17914434]
    • (2007) Eye (Lond) , vol.21 , pp. 1310-1318
    • Sowden, J.C.1
  • 4
    • 0002621289 scopus 로고
    • Ueber angeborene Defektbildung der Descemetschen Membran
    • Peters A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin Monatsbl Augenheilkd 1906; 44:27-40.
    • (1906) Klin Monatsbl Augenheilkd , vol.44 , pp. 27-40
    • Peters, A.1
  • 5
    • 0013889762 scopus 로고
    • The anterior chamber cleavage syndrome
    • PMID: 5948260
    • Reese AB, Ellsworth RM. The anterior chamber cleavage syndrome. Arch Ophthalmol 1966; 75:307-318. [PMID: 5948260]
    • (1966) Arch Ophthalmol , vol.75 , pp. 307-318
    • Reese, A.B.1    Ellsworth, R.M.2
  • 6
    • 0035253581 scopus 로고    scopus 로고
    • Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
    • PMID: 11159941
    • Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001; 10:231-236. [PMID: 11159941]
    • (2001) Hum Mol Genet , vol.10 , pp. 231-236
    • Semina, E.V.1    Brownell, I.2    Mintz-Hittner, H.A.3    Murray, J.C.4    Jamrich, M.5
  • 14
    • 0029887051 scopus 로고    scopus 로고
    • Colobomatous microphthalmia with midfacial clefting: Part of the spectrum of branchio-oculo-facial syndrome?
    • PMID: 8832722
    • Richardson E, Davison C, Moore AT. Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? Ophthalmic Genet 1996; 17:59-65. [PMID: 8832722]
    • (1996) Ophthalmic Genet , vol.17 , pp. 59-65
    • Richardson, E.1    Davison, C.2    Moore, A.T.3
  • 17
    • 0034639683 scopus 로고    scopus 로고
    • Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
    • PMID: 10655545
    • Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 2000; 9:363-366. [PMID: 10655545]
    • (2000) Hum Mol Genet , vol.9 , pp. 363-366
    • Azuma, N.1    Hirakiyama, A.2    Inoue, T.3    Asaka, A.4    Yamada, M.5
  • 19
    • 0033062244 scopus 로고    scopus 로고
    • Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation
    • PMID: 10406670
    • Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am J Med Genet 1999; 85:160-170. [PMID: 10406670]
    • (1999) Am J Med Genet , vol.85 , pp. 160-170
    • Okajima, K.1    Robinson, L.K.2    Hart, M.A.3    Abuelo, D.N.4    Cowan, L.S.5    Hasegawa, T.6    Maumenee, I.H.7    Jabs, E.W.8
  • 20
    • 25644460506 scopus 로고    scopus 로고
    • Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation
    • PMID: 16158432
    • McCann E, Kaye SB, Newman W, Norbury G, Black GC, Ellis IH. Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. Am J Med Genet A 2005; 138A:278-281. [PMID: 16158432]
    • (2005) Am J Med Genet A , vol.138 A , pp. 278-281
    • McCann, E.1    Kaye, S.B.2    Newman, W.3    Norbury, G.4    Black, G.C.5    Ellis, I.H.6
  • 21
    • 0028074973 scopus 로고
    • PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
    • PMID: 7951315
    • Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994; 7:463-471. [PMID: 7951315]
    • (1994) Nat Genet , vol.7 , pp. 463-471
    • Glaser, T.1    Jepeal, L.2    Edwards, J.G.3    Young, S.R.4    Favor, J.5    Maas, R.L.6
  • 22
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    • PMID: 8162071
    • Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 1994; 6:168-173. [PMID: 8162071]
    • (1994) Nat 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    Punnett, H.H.7    van Heyningen, V.8
  • 23
    • 1942453387 scopus 로고    scopus 로고
    • A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly
    • [PMID: 15090434]
    • Nanjo Y, Kawasaki S, Mori K, Sotozono C, Inatomi T, Kinoshita S. A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly. Br J Ophthalmol 2004; 88:720-721. [PMID: 15090434]
    • (2004) Br J Ophthalmol , vol.88 , pp. 720-721
    • Nanjo, Y.1    Kawasaki, S.2    Mori, K.3    Sotozono, C.4    Inatomi, T.5    Kinoshita, S.6
  • 24
    • 77952296760 scopus 로고    scopus 로고
    • A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly
    • PMID: 20405024
    • Jia X, Guo X, Jia X, Xiao X, Li S, Zhang Q. A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. Mol Vis 2010; 16:676-681. [PMID: 20405024]
    • (2010) Mol Vis , vol.16 , pp. 676-681
    • Jia, X.1    Guo, X.2    Jia, X.3    Xiao, X.4    Li, S.5    Zhang, Q.6
  • 25
    • 13944271839 scopus 로고    scopus 로고
    • Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene
    • PMID: 15671264
    • Bredrup C, Knappskog PM, Majewski J, Rodahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci 2005; 46:420-426. [PMID: 15671264]
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 420-426
    • Bredrup, C.1    Knappskog, P.M.2    Majewski, J.3    Rodahl, E.4    Boman, H.5
  • 31
    • 33644861131 scopus 로고    scopus 로고
    • A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family
    • PMID: 16470690
    • Vanita V, Singh D, Robinson PN, Sperling K, Singh JR. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A 2006; 140:558-566. [PMID: 16470690]
    • (2006) Am J Med Genet A , vol.140 , pp. 558-566
    • Vanita, V.1    Singh, D.2    Robinson, P.N.3    Sperling, K.4    Singh, J.R.5
  • 35
    • 0026461109 scopus 로고
    • Peters' anomaly and associated congenital malformations
    • PMID: 1463415
    • Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. Arch Ophthalmol 1992; 110:1739-1742. [PMID: 1463415]
    • (1992) Arch Ophthalmol , vol.110 , pp. 1739-1742
    • Traboulsi, E.I.1    Maumenee, I.H.2
  • 36
    • 37549047240 scopus 로고    scopus 로고
    • Congenital corneal opacities: A review with a focus on genetics
    • PMID: 18097987
    • Ciralsky J, Colby K. Congenital corneal opacities: a review with a focus on genetics. Semin Ophthalmol 2007; 22:241-246. [PMID: 18097987]
    • (2007) Semin Ophthalmol , vol.22 , pp. 241-246
    • Ciralsky, J.1    Colby, K.2
  • 37
    • 0020467224 scopus 로고
    • Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings
    • PMID: 7171776
    • BenEzra D, Abulafia H, Maftzir G, Yatziv S, Paez J, Zelikovitch A. Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings. Birth Defects Orig Artic Ser 1982; 18:571-575. [PMID: 7171776]
    • (1982) Birth Defects Orig Artic Ser , vol.18 , pp. 571-575
    • Benezra, D.1    Abulafia, H.2    Maftzir, G.3    Yatziv, S.4    Paez, J.5    Zelikovitch, A.6
  • 38
    • 84907113543 scopus 로고
    • Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly
    • PMID: 4069583
    • Wertelecki W, Dev VG, Superneau DW. Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly. Ophthalmic Paediatr Genet 1985; 6:247-255. [PMID: 4069583]
    • (1985) Ophthalmic Paediatr Genet , vol.6 , pp. 247-255
    • Wertelecki, W.1    Dev, V.G.2    Superneau, D.W.3
  • 39
    • 0025012907 scopus 로고
    • De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies
    • PMID: 2308156
    • Temple IK, Hurst JA, Hing S, Butler L, Baraitser M. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet 1990; 27:56-58. [PMID: 2308156]
    • (1990) J Med Genet , vol.27 , pp. 56-58
    • Temple, I.K.1    Hurst, J.A.2    Hing, S.3    Butler, L.4    Baraitser, M.5
  • 40
    • 0025017752 scopus 로고
    • Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3
    • PMID: 2308157
    • Al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR. Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet 1990; 27:59-63. [PMID: 2308157]
    • (1990) J Med Genet , vol.27 , pp. 59-63
    • Al-Gazali, L.I.1    Mueller, R.F.2    Caine, A.3    Antoniou, A.4    McCartney, A.5    Fitchett, M.6    Dennis, N.R.7
  • 43
    • 0026764396 scopus 로고
    • Combined Golz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome?
    • PMID: 1642272
    • Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K. Combined Golz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? Am J Med Genet 1992; 43:839-843. [PMID: 1642272]
    • (1992) Am J Med Genet , vol.43 , pp. 839-843
    • Naritomi, K.1    Izumikawa, Y.2    Nagataki, S.3    Fukushima, Y.4    Wakui, K.5    Niikawa, N.6    Hirayama, K.7
  • 45
    • 0025980080 scopus 로고
    • Linear skin defects and congenital microphthalmia: A new syndrome at Xp22.2
    • PMID: 2002490
    • Allanson J, Richter S. Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. J Med Genet 1991; 28:143-144. [PMID: 2002490]
    • (1991) J Med Genet , vol.28 , pp. 143-144
    • Allanson, J.1    Richter, S.2
  • 46
    • 0025038625 scopus 로고
    • Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: Clinical observations relevant to Aicardi syndrome gene localization
    • PMID: 2248284
    • Donnenfeld AE, Graham JM, Packer RJ, Aquino R, Berg SZ, Emanuel BS. Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization. Am J Med Genet 1990; 37:182-186. [PMID: 2248284]
    • (1990) Am J Med Genet , vol.37 , pp. 182-186
    • Donnenfeld, A.E.1    Graham, J.M.2    Packer, R.J.3    Aquino, R.4    Berg, S.Z.5    Emanuel, B.S.6
  • 47
    • 0026687309 scopus 로고
    • Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects
    • PMID: 1519653
    • Lindor NM, Michels VV, Hoppe DA, Driscoll DJ, Leavitt JA, Dewald GW. Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects. Am J Med Genet 1992; 44:61-65. [PMID: 1519653]
    • (1992) Am J Med Genet , vol.44 , pp. 61-65
    • Lindor, N.M.1    Michels, V.V.2    Hoppe, D.A.3    Driscoll, D.J.4    Leavitt, J.A.5    Dewald, G.W.6
  • 48
    • 0031689653 scopus 로고    scopus 로고
    • Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: Molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
    • PMID: 9737776
    • Ogata T, Wakui K, Muroya K, Ohashi H, Matsuo N, Brown DM, Ishii T, Fukushima Y. Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern. Hum Genet 1998; 103:51-56. [PMID: 9737776]
    • (1998) Hum Genet , vol.103 , pp. 51-56
    • Ogata, T.1    Wakui, K.2    Muroya, K.3    Ohashi, H.4    Matsuo, N.5    Brown, D.M.6    Ishii, T.7    Fukushima, Y.8
  • 49
    • 36448937824 scopus 로고    scopus 로고
    • Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
    • PMID: 17845869
    • Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. Eur J Med Genet 2007; 50:421-431. [PMID: 17845869]
    • (2007) Eur J Med Genet , vol.50 , pp. 421-431
    • Wimplinger, I.1    Rauch, A.2    Orth, U.3    Schwarzer, U.4    Trautmann, U.5    Kutsche, K.6
  • 50
    • 0041320753 scopus 로고    scopus 로고
    • Twin brothers with MIDAS syndrome and XX karyotype
    • PMID: 12707958
    • Anguiano A, Yang X, Felix JK, Hoo JJ. Twin brothers with MIDAS syndrome and XX karyotype. Am J Med Genet 2003; 119A:47-49. [PMID: 12707958]
    • (2003) Am J Med Genet , vol.119 A , pp. 47-49
    • Anguiano, A.1    Yang, X.2    Felix, J.K.3    Hoo, J.J.4
  • 51
    • 0020399261 scopus 로고
    • Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation
    • PMID: 6818132
    • Ropers HH, Zuffardi O, Bianchi E, Tiepolo L. Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet 1982; 61:364-368. [PMID: 6818132]
    • (1982) Hum Genet , vol.61 , pp. 364-368
    • Ropers, H.H.1    Zuffardi, O.2    Bianchi, E.3    Tiepolo, L.4
  • 53
    • 0026895136 scopus 로고
    • Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses
    • PMID: 1303191
    • Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet 1992; 1:221-227. [PMID: 1303191]
    • (1992) Hum Mol Genet , vol.1 , pp. 221-227
    • Ballabio, A.1    Andria, G.2
  • 54
    • 0028060586 scopus 로고
    • Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1
    • PMID: 8089303
    • Eng A, Lebel RR, Elejalde BR, Anderson C, Bennett L. Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1. J Am Acad Dermatol 1994; 31:680-682. [PMID: 8089303]
    • (1994) J Am Acad Dermatol , vol.31 , pp. 680-682
    • Eng, A.1    Lebel, R.R.2    Elejalde, B.R.3    Anderson, C.4    Bennett, L.5
  • 55
    • 3342879405 scopus 로고    scopus 로고
    • Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea)
    • PMID: 15249380
    • Cape CJ, Zaidman GW, Beck AD, Kaufman AH. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). Arch Ophthalmol 2004; 122:1070-1074. [PMID: 15249380]
    • (2004) Arch Ophthalmol , vol.122 , pp. 1070-1074
    • Cape, C.J.1    Zaidman, G.W.2    Beck, A.D.3    Kaufman, A.H.4
  • 56
    • 0029034650 scopus 로고
    • MIDAS syndrome (microphthalmia, dermal aplasia and sclerocornea): An autonomous entity with linear skin defects within the spectrum of focal hypoplasias
    • Mucke J, Hoepffner W, Thamm B, Theile H. MIDAS syndrome (microphthalmia, dermal aplasia and sclerocornea): an autonomous entity with linear skin defects within the spectrum of focal hypoplasias. Eur J Dermatol 1995; 5:197-203.
    • (1995) Eur J Dermatol , vol.5 , pp. 197-203
    • Mucke, J.1    Hoepffner, W.2    Thamm, B.3    Theile, H.4
  • 57
    • 0031048848 scopus 로고    scopus 로고
    • Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck
    • PMID: 9050760
    • Paulger BR, Kraus EW, Pulitzer DR, Moore CM. Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck. Pediatr Dermatol 1997; 14:26-30. [PMID: 9050760]
    • (1997) Pediatr Dermatol , vol.14 , pp. 26-30
    • Paulger, B.R.1    Kraus, E.W.2    Pulitzer, D.R.3    Moore, C.M.4
  • 58
    • 0027463449 scopus 로고
    • Brachymesomelia and Peters anomaly: A new syndrome
    • PMID: 8465841
    • Kivlin JD, Carey JC, Richey MA. Brachymesomelia and Peters anomaly: a new syndrome. Am J Med Genet 1993; 45:416-419. [PMID: 8465841]
    • (1993) Am J Med Genet , vol.45 , pp. 416-419
    • Kivlin, J.D.1    Carey, J.C.2    Richey, M.A.3
  • 61
    • 0029961837 scopus 로고    scopus 로고
    • A case of nonrhegmatogenous retinal detachment in Dandy-Walker syndrome
    • PMID: 8967314
    • Sakurai E, Shirai S, Ozeki H, Majima A. A case of nonrhegmatogenous retinal detachment in Dandy-Walker syndrome. Nippon Ganka Gakkai Zasshi 1996; 100:832-836. [PMID: 8967314]
    • (1996) Nippon Ganka Gakkai Zasshi , vol.100 , pp. 832-836
    • Sakurai, E.1    Shirai, S.2    Ozeki, H.3    Majima, A.4
  • 63
    • 0017327864 scopus 로고
    • Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
    • PMID: 870409
    • Steffensen DM, Chu EHY, Speert DP, Wall PM, Leilinger 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. [PMID: 870409]
    • (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    Leilinger, K.5    Kelch, R.P.6
  • 64
    • 0028271635 scopus 로고
    • Congenital ocular defects associated with an abnormality of the human chromosome 1: Trisomy 1q32-qter
    • PMID: 8195962
    • 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; 31:41-45. [PMID: 8195962]
    • (1994) J Pediatr Ophthalmol Strabismus , vol.31 , pp. 41-45
    • Clark, B.J.1    Lowther, G.W.2    Lee, W.R.3
  • 65
    • 0032083381 scopus 로고    scopus 로고
    • Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter)
    • PMID: 10532759
    • Broadway DC, Lyons CJ, McGillivray BC. Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter). J AAPOS 1998; 2:188-190. [PMID: 10532759]
    • (1998) J AAPOS , vol.2 , pp. 188-190
    • Broadway, D.C.1    Lyons, C.J.2    McGillivray, B.C.3
  • 66
    • 0037404122 scopus 로고    scopus 로고
    • Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly
    • PMID: 12706107
    • David D, Cardoso J, Marques B, Marques R, Silva ED, Santos H, Boavida MG. Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly. Genomics 2003; 81:489-503. [PMID: 12706107]
    • (2003) Genomics , vol.81 , pp. 489-503
    • David, D.1    Cardoso, J.2    Marques, B.3    Marques, R.4    Silva, E.D.5    Santos, H.6    Boavida, M.G.7
  • 68
    • 0034047098 scopus 로고    scopus 로고
    • Detection of submicroscopic subtelomeric chromosome translocations: A new case study
    • PMID: 10751089
    • Warburton P, Mohammed S, Ogilvie CM. Detection of submicroscopic subtelomeric chromosome translocations: a new case study. Am J Med Genet 2000; 91:51-55. [PMID: 10751089]
    • (2000) Am J Med Genet , vol.91 , pp. 51-55
    • Warburton, P.1    Mohammed, S.2    Ogilvie, C.M.3
  • 69
    • 84907115492 scopus 로고
    • Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation
    • PMID: 6545387
    • MacDonald IM, Clarke WN, Clifford BG, Reid JC, Cox DM, Hunter AG. Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation. Ophthalmic Paediatr Genet 1984; 4:75-80. [PMID: 6545387]
    • (1984) Ophthalmic Paediatr Genet , vol.4 , pp. 75-80
    • Macdonald, I.M.1    Clarke, W.N.2    Clifford, B.G.3    Reid, J.C.4    Cox, D.M.5    Hunter, A.G.6
  • 71
    • 0020959116 scopus 로고
    • Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation
    • PMID: 6873945
    • Franceschini P, Cirillo Silengo M, Davi G, Bianco R, Biagioli M. Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation. Hum Genet 1983; 64:98. [PMID: 6873945]
    • (1983) Hum Genet , vol.64 , pp. 98
    • Franceschini, P.1    Cirillo, S.M.2    Davi, G.3    Bianco, R.4    Biagioli, M.5
  • 72
    • 0020521543 scopus 로고
    • Deletion 2q: Two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36)
    • PMID: 6876110
    • Young RS, Shapiro SD, Hansen KL, Hine LK, Rainosek DE, Guerra FA. Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36). J Med Genet 1983; 20:199-202. [PMID: 6876110]
    • (1983) J Med Genet , vol.20 , pp. 199-202
    • Young, R.S.1    Shapiro, S.D.2    Hansen, K.L.3    Hine, L.K.4    Rainosek, D.E.5    Guerra, F.A.6
  • 73
    • 0022467685 scopus 로고
    • Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33)
    • PMID: 3789004
    • Benson K, Gordon M, Wassman ER, Tsi C. Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33). Am J Med Genet 1986; 25:405-411. [PMID: 3789004]
    • (1986) Am J Med Genet , vol.25 , pp. 405-411
    • Benson, K.1    Gordon, M.2    Wassman, E.R.3    Tsi, C.4
  • 76
    • 0017738809 scopus 로고
    • Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2) (q21;q24)
    • PMID: 598832
    • Fryns JP, Van Bosstraeten B, Malbrain H, Van den Berghe H. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2) (q21;q24). Hum Genet 1977; 39:233-238. [PMID: 598832]
    • (1977) Hum Genet , vol.39 , pp. 233-238
    • Fryns, J.P.1    van Bosstraeten, B.2    Malbrain, H.3    van den Berghe, H.4
  • 77
    • 0022656047 scopus 로고
    • Peters' anomaly as a consequence of genetic and nongenetic syndromes
    • PMID: 3079999
    • Kivlin JD, Fineman RM, Crandall AS, Olson RJ. Peters' anomaly as a consequence of genetic and nongenetic syndromes. Arch Ophthalmol 1986; 104:61-64. [PMID: 3079999]
    • (1986) Arch Ophthalmol , vol.104 , pp. 61-64
    • Kivlin, J.D.1    Fineman, R.M.2    Crandall, A.S.3    Olson, R.J.4
  • 78
    • 0025978732 scopus 로고
    • Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2
    • PMID: 2013025
    • Heathcote JG, Sholdice J, Walton JC, Willis NR, Sergovich FR. Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Can J Ophthalmol 1991; 26:35-43. [PMID: 2013025]
    • (1991) Can J Ophthalmol , vol.26 , pp. 35-43
    • Heathcote, J.G.1    Sholdice, J.2    Walton, J.C.3    Willis, N.R.4    Sergovich, F.R.5
  • 79
    • 0036040169 scopus 로고    scopus 로고
    • The homeobox gene Six3 is a potential regulator of anterior segment formation in the chick eye
    • PMID: 12167403
    • Hsieh YW, Zhang XM, Lin E, Oliver G, Yang XJ. The homeobox gene Six3 is a potential regulator of anterior segment formation in the chick eye. Dev Biol 2002; 248:265-280. [PMID: 12167403]
    • (2002) Dev Biol , vol.248 , pp. 265-280
    • Hsieh, Y.W.1    Zhang, X.M.2    Lin, E.3    Oliver, G.4    Yang, X.J.5
  • 80
    • 4344568781 scopus 로고    scopus 로고
    • Gene expression profile of the rat eye iridocorneal angle: NEI Bank expressed sequence tag analysis
    • PMID: 15326124
    • Ahmed F, Torrado M, Zinovieva RD, Senatorov VV, Wistow G, Tomarev SI. Gene expression profile of the rat eye iridocorneal angle: NEI Bank expressed sequence tag analysis. Invest Ophthalmol Vis Sci 2004; 45:3081-3090. [PMID: 15326124]
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3081-3090
    • Ahmed, F.1    Torrado, M.2    Zinovieva, R.D.3    Senatorov, V.V.4    Wistow, G.5    Tomarev, S.I.6
  • 81
    • 0028880039 scopus 로고
    • Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity
    • PMID: 8586416
    • Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995; 30:171-177. [PMID: 8586416]
    • (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    Chevrette, L.7    Sayli, B.S.8
  • 82
    • 0016767004 scopus 로고
    • Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21)
    • [PMID: 1200027]
    • Allderdice PW, Browne N, Murphy DP. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). Am J Hum Genet 1975; 27:699-718. [PMID: 1200027]
    • (1975) Am J Hum Genet , vol.27 , pp. 699-718
    • Allderdice, P.W.1    Browne, N.2    Murphy, D.P.3
  • 83
    • 0018382839 scopus 로고
    • Familial partial trisomy of the long arm of chromosome 3 (3q)
    • [PMID: 434890]
    • Fear C, Briggs A. Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Child 1979; 54:135-138. [PMID: 434890]
    • (1979) Arch Dis Child , vol.54 , pp. 135-138
    • Fear, C.1    Briggs, A.2
  • 85
    • 17844369432 scopus 로고    scopus 로고
    • Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy- Walker malformation in a girl with partial trisomy 3q
    • [PMID: 15823924]
    • de Azevedo Moreira LM, Neri FB, de Quadros Uzeda S, de Carvalho AF, Santana GC, Souza FR, Rollemberg JC. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy- Walker malformation in a girl with partial trisomy 3q. Ophthalmic Genet 2005; 26:37-43. [PMID: 15823924]
    • (2005) Ophthalmic Genet , vol.26 , pp. 37-43
    • de Azevedo, M.L.M.1    Neri, F.B.2    de Quadros, U.S.3    de Carvalho, A.F.4    Santana, G.C.5    Souza, F.R.6    Rollemberg, J.C.7
  • 87
    • 0017649569 scopus 로고
    • Pericentric inversion and partial monosomy 4q associated with congenital anomalies
    • [PMID: 598833]
    • Serville F, Broustet A. Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum Genet 1977; 39:239-242. [PMID: 598833]
    • (1977) Hum Genet , vol.39 , pp. 239-242
    • Serville, F.1    Broustet, A.2
  • 89
    • 0026538003 scopus 로고
    • Evidance that Rieger syndrome maps to 4q25 or4q27
    • PMID: 1583647
    • Vaux C, Sheffield L, Keith CG, Voullaire L. Evidance that Rieger syndrome maps to 4q25 or4q27. J Med Genet 1992; 29:256-258. [PMID: 1583647]
    • (1992) J Med Genet , vol.29 , pp. 256-258
    • Vaux, C.1    Sheffield, L.2    Keith, C.G.3    Voullaire, L.4
  • 90
    • 0026744729 scopus 로고
    • Rieger syndrome and interstitial 4q26 deletion
    • [PMID: 1388934]
    • Fryns JP, Van Den Berghe H. Rieger syndrome and interstitial 4q26 deletion. Genet Couns 1992; 3:153-154. [PMID: 1388934]
    • (1992) Genet Couns , vol.3 , pp. 153-154
    • Fryns, J.P.1    van den Berghe, H.2
  • 92
    • 0030781066 scopus 로고    scopus 로고
    • Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25→q27) secondary to a balanced insertion in his normal father: Evidence for haplotype insufficiency causing the Rieger malformation
    • [PMID: 9429145]
    • Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH. Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25→q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation. J Med Genet 1997; 34:1012-1014. [PMID: 9429145]
    • (1997) J Med Genet , vol.34 , pp. 1012-1014
    • Schinzel, A.1    Brecevic, L.2    Dutly, F.3    Baumer, A.4    Binkert, F.5    Largo, R.H.6
  • 93
    • 0037389252 scopus 로고    scopus 로고
    • A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature
    • [PMID: 12647202]
    • Becker SA, Popp S, Rager K, Jauch A. A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature. Eur J Pediatr 2003; 162:267-270. [PMID: 12647202]
    • (2003) Eur J Pediatr , vol.162 , pp. 267-270
    • Becker, S.A.1    Popp, S.2    Rager, K.3    Jauch, A.4
  • 95
    • 0031019133 scopus 로고    scopus 로고
    • Rieger syndrome locus: A new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193
    • [PMID: 9132488]
    • Flomen RH, Gorman PA, Vatcheva R, Groet J., Barisil I, Ligutil I, Sheer D, Nizetil D. Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J Med Genet 1997; 34:191-195. [PMID: 9132488]
    • (1997) J Med Genet , vol.34 , pp. 191-195
    • Flomen, R.H.1    Gorman, P.A.2    Vatcheva, R.3    Groet, J.4    Barisil, I.5    Ligutil, I.6    Sheer, D.7    Nizetil, D.8
  • 97
    • 77950417958 scopus 로고    scopus 로고
    • Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25- q31.1)
    • [PMID: 20358612]
    • Moreira L, Schinzel A, Baumer A, Pinto P, Góes F, Falcão Mde L, Barbosa AL, Riegel M. Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25- q31.1). Am J Med Genet A 2010; 152A:977-981. [PMID: 20358612]
    • (2010) Am J Med Genet A , vol.152 A , pp. 977-981
    • Moreira, L.1    Schinzel, A.2    Baumer, A.3    Pinto, P.4    Góes, F.5    Falcão, M.L.6    Barbosa, A.L.7    Riegel, M.8
  • 98
    • 18744421322 scopus 로고    scopus 로고
    • Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene
    • [PMID: 9480756]
    • Flomen RH, Vatcheva R, Gorman PA, Baptista PR, Groet J, Barisi I, Ligutic I, Nizeti D. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998; 47:409-413. [PMID: 9480756]
    • (1998) Genomics , vol.47 , pp. 409-413
    • Flomen, R.H.1    Vatcheva, R.2    Gorman, P.A.3    Baptista, P.R.4    Groet, J.5    Barisi, I.6    Ligutic, I.7    Nizeti, D.8
  • 102
    • 0037092595 scopus 로고    scopus 로고
    • Molecular genetics of Axenfeld-Rieger malformations
    • [PMID: 12015277]
    • Lines MA, Kozlowski K, Walter MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 2002; 11:1177-1184. [PMID: 12015277]
    • (2002) Hum Mol Genet , vol.11 , pp. 1177-1184
    • Lines, M.A.1    Kozlowski, K.2    Walter, M.A.3
  • 103
    • 33644747445 scopus 로고    scopus 로고
    • Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis
    • [PMID: 16449236]
    • Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet 2006; 15:905-919. [PMID: 16449236]
    • (2006) Hum Mol Genet , vol.15 , pp. 905-919
    • Berry, F.B.1    Lines, M.A.2    Oas, J.M.3    Footz, T.4    Underhill, D.A.5    Gage, P.J.6    Walter, M.A.7
  • 104
    • 77049109435 scopus 로고    scopus 로고
    • Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous
    • [PMID: 19461663]
    • Arikawa A, Yoshida S, Yoshikawa H, Ishikawa K, Yamaji Y, Arita RI, Ueno A, Ishibashi T. Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous. Eye (Lond) 2010; 24:391-393. [PMID: 19461663]
    • (2010) Eye (Lond) , vol.24 , pp. 391-393
    • Arikawa, A.1    Yoshida, S.2    Yoshikawa, H.3    Ishikawa, K.4    Yamaji, Y.5    Arita, R.I.6    Ueno, A.7    Ishibashi, T.8
  • 105
    • 33745058745 scopus 로고    scopus 로고
    • Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion
    • [PMID: 16754208]
    • Neilan E, Pikman Y, Kimonis VE. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. Ophthalmic Genet 2006; 27:63-65. [PMID: 16754208]
    • (2006) Ophthalmic Genet , vol.27 , pp. 63-65
    • Neilan, E.1    Pikman, Y.2    Kimonis, V.E.3
  • 106
    • 0018084594 scopus 로고
    • Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome)
    • [PMID: 104624]
    • Wilcox LM Jr, Bercovitch L, Howard RO. Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome). Am J Ophthalmol 1978; 86:834-839. [PMID: 104624]
    • (1978) Am J Ophthalmol , vol.86 , pp. 834-839
    • Wilcox Jr., L.M.1    Bercovitch, L.2    Howard, R.O.3
  • 107
    • 0024477549 scopus 로고
    • Ocular findings in a 4p- deletion syndrome (Wolf-Hirschhorn)
    • [PMID: 2787011]
    • Mayer UM, Bialasiewicz AA. Ocular findings in a 4p- deletion syndrome (Wolf-Hirschhorn). Ophthalmic Paediatr Genet 1989; 10:69-72. [PMID: 2787011]
    • (1989) Ophthalmic Paediatr Genet , vol.10 , pp. 69-72
    • Mayer, U.M.1    Bialasiewicz, A.A.2
  • 108
    • 0028800902 scopus 로고
    • Atypical Peters' anomaly associated with partial trisomy 5p
    • [PMID: 7573322]
    • Dichtl A, Jonas JB, Naumann GO. Atypical Peters' anomaly associated with partial trisomy 5p. Am J Ophthalmol 1995; 120:541-542. [PMID: 7573322]
    • (1995) Am J Ophthalmol , vol.120 , pp. 541-542
    • Dichtl, A.1    Jonas, J.B.2    Naumann, G.O.3
  • 109
    • 0023265169 scopus 로고
    • Ring chromosome 6: Report of a patient and literature review
    • [PMID: 3544845]
    • Chitayat D, Háhm SYE, Iqbal MA, Nitowsky HM. Ring chromosome 6: report of a patient and literature review. Am J Med Genet 1987; 26:145-151. [PMID: 3544845]
    • (1987) Am J Med Genet , vol.26 , pp. 145-151
    • Chitayat, D.1    Háhm, S.Y.E.2    Iqbal, M.A.3    Nitowsky, H.M.4
  • 110
    • 0018303815 scopus 로고
    • Rieger's syndrome with pericentric inversion of chromosome 6
    • [PMID: 760775]
    • Heinemann MH, Breg R, Cotlier E. Rieger's syndrome with pericentric inversion of chromosome 6. Br J Ophthalmol 1979; 63:40-44. [PMID: 760775]
    • (1979) Br J Ophthalmol , vol.63 , pp. 40-44
    • Heinemann, M.H.1    Breg, R.2    Cotlier, E.3
  • 112
    • 0032877883 scopus 로고    scopus 로고
    • An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development
    • [PMID: 10507730]
    • Davies AF, Mirza G, Flinter F, Ragoussis J. An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development. J Med Genet 1999; 36:708-710. [PMID: 10507730]
    • (1999) J Med Genet , vol.36 , pp. 708-710
    • Davies, A.F.1    Mirza, G.2    Flinter, F.3    Ragoussis, J.4
  • 113
    • 26444460876 scopus 로고    scopus 로고
    • Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment
    • [PMID: 15219231]
    • Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment. BMC Med Genet 2004; 5:17. [PMID: 15219231]
    • (2004) BMC Med Genet , vol.5 , pp. 17
    • Gould, D.B.1    Jaafar, M.S.2    Addison, M.K.3    Munier, F.4    Ritch, R.5    Macdonald, I.M.6    Walter, M.A.7
  • 118
    • 33644849100 scopus 로고    scopus 로고
    • Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous
    • [PMID: 16470791]
    • Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H. Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. Am J Med Genet A 2006; 140:503-508. [PMID: 16470791]
    • (2006) Am J Med Genet A , vol.140 , pp. 503-508
    • Suzuki, K.1    Nakamura, M.2    Amano, E.3    Mokuno, K.4    Shirai, S.5    Terasaki, H.6
  • 121
    • 0026689328 scopus 로고
    • Sclerocornea and interstitialdeletion of the short arm of chromosome 6-(46XY del [6] [p22 p24])
    • [PMID: 1432504]
    • Moriarty AP, Kerr-Muir MG. Sclerocornea and interstitialdeletion of the short arm of chromosome 6-(46XY del [6] [p22 p24]). J Pediatr Ophthalmol Strabismus 1992; 29:177-179. [PMID: 1432504]
    • (1992) J Pediatr Ophthalmol Strabismus , vol.29 , pp. 177-179
    • Moriarty, A.P.1    Kerr-Muir, M.G.2
  • 122
    • 0015694387 scopus 로고
    • Reiger's syndrome with chromosomal anomaly (report of a case)
    • [PMID: 4742907]
    • Tabbara KF, Khouri FP, der Kaloustian VM. Reiger's syndrome with chromosomal anomaly (report of a case). Can J Ophthalmol 1973; 8:488-491. [PMID: 4742907]
    • (1973) Can J Ophthalmol , vol.8 , pp. 488-491
    • Tabbara, K.F.1    Khouri, F.P.2    der Kaloustian, V.M.3
  • 126
    • 0023276437 scopus 로고
    • A corneal abnormality associated with trisomy 8 mosaicism syndrome
    • [PMID: 3814568]
    • Stark DJ, Gilmore DW, Vance JC, Pearn JH. A corneal abnormality associated with trisomy 8 mosaicism syndrome. Br J Ophthalmol 1987; 71:29-31. [PMID: 3814568]
    • (1987) Br J Ophthalmol , vol.71 , pp. 29-31
    • Stark, D.J.1    Gilmore, D.W.2    Vance, J.C.3    Pearn, J.H.4
  • 127
    • 0020636523 scopus 로고
    • Corneal opacities-a diagnostic feature of the trisomy 8 mosaic syndrome
    • [PMID: 6882720]
    • Frangoulis M, Taylor D. Corneal opacities-a diagnostic feature of the trisomy 8 mosaic syndrome. Br J Ophthalmol 1983; 67:619-622. [PMID: 6882720]
    • (1983) Br J Ophthalmol , vol.67 , pp. 619-622
    • Frangoulis, M.1    Taylor, D.2
  • 128
    • 0031025750 scopus 로고    scopus 로고
    • Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8)
    • [PMID: 8985632]
    • Scott JA, Howard PJ, Smith PA, Fryer A, Easty DL, Patterson A, Kaye SB. Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8). Cornea 1997; 16:35-41. [PMID: 8985632]
    • (1997) Cornea , vol.16 , pp. 35-41
    • Scott, J.A.1    Howard, P.J.2    Smith, P.A.3    Fryer, A.4    Easty, D.L.5    Patterson, A.6    Kaye, S.B.7
  • 129
    • 20444383137 scopus 로고    scopus 로고
    • Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism
    • [PMID: 15956953]
    • Stone DU, Siatkowski RM. Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism. J AAPOS 2005; 9:290-291. [PMID: 15956953]
    • (2005) J AAPOS , vol.9 , pp. 290-291
    • Stone, D.U.1    Siatkowski, R.M.2
  • 130
    • 0020063346 scopus 로고
    • De novo interstitial deletion in the long arm of chromosome 9: A new chromosome syndrome
    • [PMID: 7069749]
    • Ying KL, Curry CJ, Rajani KB, Kassel SH, Sparkes RS. De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. J Med Genet 1982; 19:68-70. [PMID: 7069749]
    • (1982) J Med Genet , vol.19 , pp. 68-70
    • Ying, K.L.1    Curry, C.J.2    Rajani, K.B.3    Kassel, S.H.4    Sparkes, R.S.5
  • 134
    • 0018958624 scopus 로고
    • Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality
    • [PMID: 6999913]
    • Schanzlin DJ, Goldberg DB, Brown SI. Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. Am J Ophthalmol 1980; 90:411-415. [PMID: 6999913]
    • (1980) Am J Ophthalmol , vol.90 , pp. 411-415
    • Schanzlin, D.J.1    Goldberg, D.B.2    Brown, S.I.3
  • 135
    • 0016220305 scopus 로고
    • Sclerocornea with na unbalanced translocation (17p,10q)
    • [PMID: 4835053]
    • Rodrigues MM, Calhoun J, Weinreb S. Sclerocornea with na unbalanced translocation (17p,10q). Am J Ophthalmol 1974; 78:49-53. [PMID: 4835053]
    • (1974) Am J Ophthalmol , vol.78 , pp. 49-53
    • Rodrigues, M.M.1    Calhoun, J.2    Weinreb, S.3
  • 136
    • 0031896814 scopus 로고    scopus 로고
    • The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor
    • [PMID: 9521581]
    • Steinberger D, Vriend G, Mulliken JB, Müller U. The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. Hum Genet 1998; 102:145-150. [PMID: 9521581]
    • (1998) Hum Genet , vol.102 , pp. 145-150
    • Steinberger, D.1    Vriend, G.2    Mulliken, J.B.3    Müller, U.4
  • 137
    • 0015983695 scopus 로고
    • A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10
    • PMID: 4834252
    • Yunis JJ, Sanchez O. A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr 1974; 84:567-570. [PMID: 4834252]
    • (1974) J Pediatr , vol.84 , pp. 567-570
    • Yunis, J.J.1    Sanchez, O.2
  • 138
    • 56149116122 scopus 로고    scopus 로고
    • Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3
    • [PMID: 18989383]
    • Summers KM, Withrs SJ, Gole GA, Piras S, Taylor PJ. Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. Mol Vis 2008; 14:2010-2015. [PMID: 18989383]
    • (2008) Mol Vis , vol.14 , pp. 2010-2015
    • Summers, K.M.1    Withrs, S.J.2    Gole, G.A.3    Piras, S.4    Taylor, P.J.5
  • 139
    • 0021357411 scopus 로고
    • Monosomie partielle du bras court d'un chromosome 10, associée a un syndrome de Rieger et a un deficit immunitaire partiel, type di George
    • [PMID: 6712103]
    • Hervé J, Warnet JF. Monosomie partielle du bras court d'un chromosome 10, associée a un syndrome de Rieger et a un deficit immunitaire partiel, type di George. Ann Pediatr (Paris) 1984; 31:77-80. [PMID: 6712103]
    • (1984) Ann Pediatr (Paris) , vol.31 , pp. 77-80
    • Hervé, J.1    Warnet, J.F.2
  • 140
    • 0025125041 scopus 로고
    • 11p13 deletion, Wilms' tumour, and aniridia: Unusual genetic, non-ocular and ocular features of three cases
    • [PMID: 2168204]
    • Jotterand V, Boisjoly HM, Harnois C, Bigonesse P, Laframboise R, Gagné R, St-Pierre A. 11p13 deletion, Wilms' tumour, and aniridia: unusual genetic, non-ocular and ocular features of three cases. Br J Ophthalmol 1990; 74:568-570. [PMID: 2168204]
    • (1990) Br J Ophthalmol , vol.74 , pp. 568-570
    • Jotterand, V.1    Boisjoly, H.M.2    Harnois, C.3    Bigonesse, P.4    Laframboise, R.5    Gagné, R.6    St-Pierre, A.7
  • 141
    • 0030671068 scopus 로고    scopus 로고
    • Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?
    • [PMID: 9415682]
    • Aalfs CM, Fantes JA, Wenniger-Prick LJ, Sluijter S, Hennekam RC, van Heyningen V, Hoovers JM. Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product? Am J Med Genet 1997; 73:267-271. [PMID: 9415682]
    • (1997) Am J Med Genet , vol.73 , pp. 267-271
    • Aalfs, C.M.1    Fantes, J.A.2    Wenniger-Prick, L.J.3    Sluijter, S.4    Hennekam, R.C.5    van Heyningen, V.6    Hoovers, J.M.7
  • 142
    • 0035088665 scopus 로고    scopus 로고
    • Rieger syndrome is associated with PAX6 deletion
    • [PMID: 11284764]
    • Riise R, Storhaug K, Brøndum-Nielsen K. Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand 2001; 79:201-203. [PMID: 11284764]
    • (2001) Acta Ophthalmol Scand , vol.79 , pp. 201-203
    • Riise, R.1    Storhaug, K.2    Brøndum-Nielsen, K.3
  • 144
    • 0035209531 scopus 로고    scopus 로고
    • A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos
    • [PMID: 11735802]
    • Kawase E, Tanaka K, Honna T, Azuma N. A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. Arch Ophthalmol 2001; 119:1855-1856. [PMID: 11735802]
    • (2001) Arch Ophthalmol , vol.119 , pp. 1855-1856
    • Kawase, E.1    Tanaka, K.2    Honna, T.3    Azuma, N.4
  • 145
    • 0021366595 scopus 로고
    • Peters' anomaly associated with partial deletion of the long arm of chromosome 11
    • [PMID: 6696011]
    • Bateman JB, Maumenee IH, Sparkes RS. Peters' anomaly associated with partial deletion of the long arm of chromosome 11. Am J Ophthalmol 1984; 97:11-15. [PMID: 6696011]
    • (1984) Am J Ophthalmol , vol.97 , pp. 11-15
    • Bateman, J.B.1    Maumenee, I.H.2    Sparkes, R.S.3
  • 146
    • 0022339885 scopus 로고
    • Phenotypic variation in the del(12p) syndrome
    • [PMID: 4073126]
    • Kivlin JD, Fineman RM, Williams MS. Phenotypic variation in the del(12p) syndrome. Am J Med Genet 1985; 22:769-779. [PMID: 4073126]
    • (1985) Am J Med Genet , vol.22 , pp. 769-779
    • Kivlin, J.D.1    Fineman, R.M.2    Williams, M.S.3
  • 147
    • 0014750863 scopus 로고
    • Changes in corneal ultrastructure resulting from early lens removal in the developing chick embryo
    • [PMID: 5416396]
    • Zinn KM. Changes in corneal ultrastructure resulting from early lens removal in the developing chick embryo. Invest Ophthalmol 1970; 9:165-182. [PMID: 5416396]
    • (1970) Invest Ophthalmol , vol.9 , pp. 165-182
    • Zinn, K.M.1
  • 151
    • 56049112819 scopus 로고    scopus 로고
    • Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly
    • [PMID: 18925664]
    • Hayashi S, Okamoto N, Makita Y, Hata A, Imoto I, Inazawa J. Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. Am J Med Genet A 2008; 146A:2905-2910. [PMID: 18925664]
    • (2008) Am J Med Genet A , vol.146 A , pp. 2905-2910
    • Hayashi, S.1    Okamoto, N.2    Makita, Y.3    Hata, A.4    Imoto, I.5    Inazawa, J.6
  • 154
  • 155
    • 0014314707 scopus 로고
    • Ocular manifestations of trisomy 18
    • [PMID: 4968960]
    • Ginsberg J, Perrin EV, Sueoka WT. Ocular manifestations of trisomy 18. Am J Ophthalmol 1968; 66:59-67. [PMID: 4968960]
    • (1968) Am J Ophthalmol , vol.66 , pp. 59-67
    • Ginsberg, J.1    Perrin, E.V.2    Sueoka, W.T.3
  • 156
    • 0015887916 scopus 로고
    • Ocular pathology in trisomy 18 (Edwards' syndrome)
    • [PMID: 4725009]
    • Mullaney J. Ocular pathology in trisomy 18 (Edwards' syndrome). Am J Ophthalmol 1973; 76:246-254. [PMID: 4725009]
    • (1973) Am J Ophthalmol , vol.76 , pp. 246-254
    • Mullaney, J.1
  • 157
    • 0031032810 scopus 로고    scopus 로고
    • Congenital aphakia: A clinicopathologic report of three cases
    • [PMID: 9027678]
    • Johnson BL, Cheng KP. Congenital aphakia: a clinicopathologic report of three cases. J Pediatr Ophthalmol Strabismus 1997; 34:35-39. [PMID: 9027678]
    • (1997) J Pediatr Ophthalmol Strabismus , vol.34 , pp. 35-39
    • Johnson, B.L.1    Cheng, K.P.2
  • 158
    • 0013960280 scopus 로고
    • Congenital central corneal opacities from embrylogical developmental deviation of the anterior segment of the eye (Peters syndrome). 3 cases
    • [PMID: 4965852]
    • Godde-Jolly D, Bonnin MP. Congenital central corneal opacities from embrylogical developmental deviation of the anterior segment of the eye (Peters syndrome). 3 cases. Bull Soc Ophtalmol Fr 1966; 66:917-922. [PMID: 4965852]
    • (1966) Bull Soc Ophtalmol Fr , vol.66 , pp. 917-922
    • Godde-Jolly, D.1    Bonnin, M.P.2
  • 159
    • 84907115984 scopus 로고
    • Anterior segment malformations in 18q- (de Grouchy) syndrome
    • [PMID: 8233359]
    • Izquierdo NJ, Maumenee IH, Traboulsi EI. Anterior segment malformations in 18q- (de Grouchy) syndrome. Ophthalmic Paediatr Genet 1993; 14:91-94. [PMID: 8233359]
    • (1993) Ophthalmic Paediatr Genet , vol.14 , pp. 91-94
    • Izquierdo, N.J.1    Maumenee, I.H.2    Traboulsi, E.I.3
  • 161
    • 0022389367 scopus 로고
    • Peters' anomaly in association with ring 21 chromosomal abnormality
    • [PMID: 4061557]
    • Cibis GW, Waeltermann J, Harris DJ. Peters' anomaly in association with ring 21 chromosomal abnormality. Am J Ophthalmol 1985; 100:733-734. [PMID: 4061557]
    • (1985) Am J Ophthalmol , vol.100 , pp. 733-734
    • Cibis, G.W.1    Waeltermann, J.2    Harris, D.J.3
  • 162
    • 0028033505 scopus 로고
    • Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature
    • [PMID: 7995071]
    • Doane JF, Sajjadi H, Richardson WP. Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea 1994; 13:454-458. [PMID: 7995071]
    • (1994) Cornea , vol.13 , pp. 454-458
    • Doane, J.F.1    Sajjadi, H.2    Richardson, W.P.3
  • 164
    • 0021227126 scopus 로고
    • A case of partial monosomy 21q22.2 associated with Rieger's syndrome
    • [PMID: 6431108]
    • Nielsen F, Trånebjaerg L. A case of partial monosomy 21q22.2 associated with Rieger's syndrome. J Med Genet 1984; 21:218-221. [PMID: 6431108]
    • (1984) J Med Genet , vol.21 , pp. 218-221
    • Nielsen, F.1    Trånebjaerg, L.2
  • 165
    • 0028788577 scopus 로고
    • Physical findings in 21q22 deletion suggest critical region for 21qphenotype in q22
    • [PMID: 8588579]
    • Theodoropoulos DS, Cowan JM, Elias ER, Cole C. Physical findings in 21q22 deletion suggest critical region for 21qphenotype in q22. Am J Med Genet 1995; 59:161-163. [PMID: 8588579]
    • (1995) Am J Med Genet , vol.59 , pp. 161-163
    • Theodoropoulos, D.S.1    Cowan, J.M.2    Elias, E.R.3    Cole, C.4
  • 168
    • 25644454373 scopus 로고    scopus 로고
    • Unilateral Peters' anomaly in a patient with DiGeorge syndrome
    • [PMID: 16250223]
    • Casteels I, Devriendt K. Unilateral Peters' anomaly in a patient with DiGeorge syndrome. J Pediatr Ophthalmol Strabismus 2005; 42:311-313. [PMID: 16250223]
    • (2005) J Pediatr Ophthalmol Strabismus , vol.42 , pp. 311-313
    • Casteels, I.1    Devriendt, K.2
  • 169
    • 55349119537 scopus 로고    scopus 로고
    • Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome
    • [PMID: 18978663]
    • Erdoǧan MK, Utine GE, Alanay Y, Aktas D. Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome. Clin Dysmorphol 2008; 17:289-290. [PMID: 18978663]
    • (2008) Clin Dysmorphol , vol.17 , pp. 289-290
    • Erdoǧan, M.K.1    Utine, G.E.2    Alanay, Y.3    Aktas, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.