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Volumn 13, Issue , 2007, Pages 1635-1640

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 34548815236     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (27)

References (26)
  • 1
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    • Robinson GC, Jan JE, Kinnis C. Congenital ocular blindness in children, 1945 to 1984. Am J Dis Child 1987; 141:1321-4.
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  • 4
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    • Magnitude and causes of blindness in the developing world
    • Foster A, Johnson GJ. Magnitude and causes of blindness in the developing world. Int Ophthalmol 1990; 14:135-40.
    • (1990) Int Ophthalmol , vol.14 , pp. 135-140
    • Foster, A.1    Johnson, G.J.2
  • 6
    • 3042580045 scopus 로고    scopus 로고
    • A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2): Association with autosomal recessive congenital cataracts
    • Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF. A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 2004; 45:1940-5.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1940-1945
    • Pras, E.1    Raz, J.2    Yahalom, V.3    Frydman, M.4    Garzozi, H.J.5    Pras, E.6    Hejtmancik, J.F.7
  • 13
    • 34548826683 scopus 로고    scopus 로고
    • Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
    • Ponnam SP, Ramesha K, Tejwani S, Ramamurthy B, Kannabiran C. Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 2007; 44:e85.
    • (2007) J Med Genet , vol.44
    • Ponnam, S.P.1    Ramesha, K.2    Tejwani, S.3    Ramamurthy, B.4    Kannabiran, C.5
  • 14
    • 34147101803 scopus 로고    scopus 로고
    • Autosomal recessive juvenile onset cataract associated with mutation in BFSP1
    • Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007; 121:475-82.
    • (2007) Hum Genet , vol.121 , pp. 475-482
    • Ramachandran, R.D.1    Perumalsamy, V.2    Hejtmancik, J.F.3
  • 16
    • 0029002373 scopus 로고
    • Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
    • Eiberg H, Lund AM, Warburg M, Rosenberg T. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 1995; 96:33-8.
    • (1995) Hum Genet , vol.96 , pp. 33-38
    • Eiberg, H.1    Lund, A.M.2    Warburg, M.3    Rosenberg, T.4
  • 21
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36:460-5.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 22
    • 0031959735 scopus 로고    scopus 로고
    • A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
    • Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998; 62:526-32.
    • (1998) Am J Hum Genet , vol.62 , pp. 526-532
    • Shiels, A.1    Mackay, D.2    Ionides, A.3    Berry, V.4    Moore, A.5    Bhattacharya, S.6
  • 25
    • 0034987735 scopus 로고    scopus 로고
    • A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene
    • Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, Burger J. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet 2001; 38:392-6.
    • (2001) J Med Genet , vol.38 , pp. 392-396
    • Vanita1    Sarhadi, V.2    Reis, A.3    Jung, M.4    Singh, D.5    Sperling, K.6    Singh, J.R.7    Burger, J.8
  • 26
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    • A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q
    • Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet 2002; 71:1216-21.
    • (2002) Am J Hum Genet , vol.71 , pp. 1216-1221
    • Mackay, D.S.1    Boskovska, O.B.2    Knopf, H.L.3    Lampi, K.J.4    Shiels, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.