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Journal Abstract Search

134 related items for PubMed ID: 22914672

  • 1. Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.
    Li L, Xiao X, Yi C, Jiao X, Guo X, Hejtmancik JF, Zhang Q.
    J Hum Genet; 2012 Dec; 57(12):756-9. PubMed ID: 22914672
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  • 3. A commentary on confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.
    Ishikawa K.
    J Hum Genet; 2012 Dec; 57(12):755. PubMed ID: 23151677
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  • 8. A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.
    Liu G, Li Y, Ruan Y, Cao W, Xin L, Qian J, Gu J.
    Mol Vis; 2010 May 19; 16():874-9. PubMed ID: 20508730
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  • 9. [Mapping of a pedigree with congenital nystagmus].
    Liu ZR, Zhang BR, Ding MP, Xia K, Hu ZM, Deng H, Xia JH.
    Yi Chuan; 2004 Jul 19; 26(4):437-40. PubMed ID: 15640035
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  • 10. Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families.
    Sun W, Li S, Jia X, Wang P, Hejtmancik JF, Xiao X, Zhang Q.
    Hum Genet; 2020 Aug 19; 139(8):1057-1064. PubMed ID: 32248360
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  • 11. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.
    Evans JC, Frayling TM, Ellard S, Gutowski NJ.
    Hum Genet; 2000 Jun 19; 106(6):636-8. PubMed ID: 10942112
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  • 12. An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23.
    Li N, Yang Y, Bu J, Zhao C, Lu S, Zhao J, Yan L, Cui L, Zheng R, Li J, Tang J, Zhao K.
    Mol Vis; 2006 Dec 05; 12():1506-10. PubMed ID: 17167408
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  • 14. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
    Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, Xu S, Li Q, Song F, Tian J, Luo W, Ding M, Yin J, Xia K, Xia J.
    Mol Vis; 2007 Sep 13; 13():1674-9. PubMed ID: 17893669
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  • 15. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
    McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA.
    Br J Ophthalmol; 2005 Jul 13; 89(7):831-4. PubMed ID: 15965161
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  • 18. Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3.
    Gao M, Wang PG, Cui Y, Yang S, Zhang YH, Lin D, Zhang KY, Liang YH, Sun LD, Yan KL, Xiao FL, Huang W, Zhang XJ.
    J Invest Dermatol; 2006 Jun 13; 126(6):1302-6. PubMed ID: 16543891
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