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Volumn 16, Issue , 2010, Pages 2634-2638

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 78650766067     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (20)
  • 1
    • 0023520914 scopus 로고
    • Congenital ocular blindness in children, 1945 to 1984
    • [PMID: 3687875]
    • Robinson GC, Jan JE, Kinnis C. Congenital ocular blindness in children, 1945 to 1984. Am J Dis Child 1987; 141:1321-4. [PMID: 3687875]
    • (1987) Am J Dis Child , vol.141 , pp. 1321-1324
    • Robinson, G.C.1    Jan, J.E.2    Kinnis, C.3
  • 2
    • 0025292147 scopus 로고
    • Magnitude and causes of blindness in the developing world
    • [PMID: 2188914]
    • Foster A, Johnson GJ. Magnitude and causes of blindness in the developing world. Int Ophthalmol 1990; 14:135-40. [PMID: 2188914]
    • (1990) Int Ophthalmol , vol.14 , pp. 135-140
    • Foster, A.1    Johnson, G.J.2
  • 3
    • 0042285487 scopus 로고    scopus 로고
    • Molecular genetics of cataract
    • [PMID: 12876830]
    • Hejtmancik JF, Smaoui N. Molecular genetics of cataract. Dev Ophthalmol 2003; 37:67-82. [PMID: 12876830]
    • (2003) Dev Ophthalmol , vol.37 , pp. 67-82
    • Hejtmancik, J.F.1    Smaoui, N.2
  • 4
    • 0030012892 scopus 로고    scopus 로고
    • Fiber cell morphology and cytoplasmic texture in cataractous and normal human lens nuclei
    • [PMID: 8670754]
    • al-Ghoul KJ, Costello MJ. Fiber cell morphology and cytoplasmic texture in cataractous and normal human lens nuclei. Curr Eye Res 1996; 15:533-42. [PMID: 8670754]
    • (1996) Curr Eye Res , vol.15 , pp. 533-542
    • Al-Ghoul, K.J.1    Costello, M.J.2
  • 6
    • 34548815236 scopus 로고    scopus 로고
    • Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p
    • [PMID: 17893665]
    • Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis 2007; 13:1635-40. [PMID: 17893665]
    • (2007) Mol Vis , vol.13 , pp. 1635-1640
    • Butt, T.1    Yao, W.2    Kaul, H.3    Xiaodong, J.4    Gradstein, L.5    Zhang, Y.6    Husnain, T.7    Riazuddin, S.8    Hejtmancik, J.F.9    Riazuddin, S.A.10
  • 7
    • 34548826683 scopus 로고    scopus 로고
    • Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
    • [PMID: 17601931]
    • 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. [PMID: 17601931]
    • (2007) J Med Genet , vol.44
    • Ponnam, S.P.1    Ramesha, K.2    Tejwani, S.3    Ramamurthy, B.4    Kannabiran, C.5
  • 9
    • 3042580045 scopus 로고    scopus 로고
    • A nonsense mutation in the glucosaminyl (Nacetyl) transferase 2 gene (GCNT2): Association with autosomal recessive congenital cataracts
    • [PMID: 15161861]
    • 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. [PMID: 15161861]
    • (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
  • 14
    • 0036235720 scopus 로고    scopus 로고
    • A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family
    • [PMID: 11917274]
    • Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet 2002; 70:1363-7. [PMID: 11917274]
    • (2002) Am J Hum Genet , vol.70 , pp. 1363-1367
    • Pras, E.1    Levy-Nissenbaum, E.2    Bakhan, T.3    Lahat, H.4    Assia, E.5    Geffen-Carmi, N.6    Frydman, M.7    Goldman, B.8    Pras, E.9
  • 16
    • 34147101803 scopus 로고    scopus 로고
    • Autosomal recessive juvenile onset cataract associated with mutation in BFSP1
    • [PMID: 17225135]
    • Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007; 121:475-82. [PMID: 17225135]
    • (2007) Hum Genet , vol.121 , pp. 475-482
    • Ramachandran, R.D.1    Perumalsamy, V.2    Hejtmancik, J.F.3
  • 19
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers 509
    • [PMID: 6585139]
    • Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers 509. Am J Hum Genet 1984; 36:460-5. [PMID: 6585139]
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 20
    • 0028260703 scopus 로고
    • Avoiding recomputation in genetic linkage analysis 1669
    • [PMID: 8056435]
    • Schäffer AA, Gupta SK, Shriram K, Cottingham RW. Avoiding recomputation in genetic linkage analysis 1669. Hum Hered 1994; 44:225-37. [PMID: 8056435]
    • (1994) Hum Hered , vol.44 , pp. 225-237
    • Schäffer, A.A.1    Gupta, S.K.2    Shriram, K.3    Cottingham, R.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.