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Volumn 13, Issue , 2007, Pages 1674-1679

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus

Author keywords

[No Author keywords available]

Indexed keywords

CYTIDINE; GENE PRODUCT; GENOMIC DNA; GUANINE; PROTEIN FRMD7; THYMINE; UNCLASSIFIED DRUG;

EID: 34748825561     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (46)

References (20)
  • 3
    • 33748987629 scopus 로고    scopus 로고
    • Localizing forms of nystagmus: Symptoms, diagnosis, and treatment
    • Lee AG, Brazis PW. Localizing forms of nystagmus: symptoms, diagnosis, and treatment Curr Neurol Neurosci Rep 2006; 6:414-20.
    • (2006) Curr Neurol Neurosci Rep , vol.6 , pp. 414-420
    • Lee, A.G.1    Brazis, P.W.2
  • 4
    • 0015137801 scopus 로고
    • Prevalence and inheritance of congenital nystagmus in a Swedish population
    • Forssman B, Ringner B. Prevalence and inheritance of congenital nystagmus in a Swedish population. Ann Hum Genet 1971; 35:139-47.
    • (1971) Ann Hum Genet , vol.35 , pp. 139-147
    • Forssman, B.1    Ringner, B.2
  • 5
    • 0027164247 scopus 로고
    • Ocular and vision defects in preschool children
    • Stayte M, Reeves, B, Wortham C. Ocular and vision defects in preschool children. Br J Ophthalmol 1993; 77:228-32.
    • (1993) Br J Ophthalmol , vol.77 , pp. 228-232
    • Stayte, M.1    Reeves, B.2    Wortham, C.3
  • 6
    • 0036785337 scopus 로고    scopus 로고
    • Motor and sensory characteristics of infantile nystagmus
    • Abadi RV, Bjerre A. Motor and sensory characteristics of infantile nystagmus. Br J Ophthalmol 2002, 86:1152-60.
    • (2002) Br J Ophthalmol , vol.86 , pp. 1152-1160
    • Abadi, R.V.1    Bjerre, A.2
  • 7
    • 0027493813 scopus 로고
    • Hereditary congenital nystagmus and gaze-holding failure: The role of the neural integrator
    • Dell'Osso LF, Weissman BM, Leigh RJ, Abel LA, Sheth NV. Hereditary congenital nystagmus and gaze-holding failure: the role of the neural integrator. Neurology 1993; 43:1741-9.
    • (1993) Neurology , vol.43 , pp. 1741-1749
    • Dell'Osso, L.F.1    Weissman, B.M.2    Leigh, R.J.3    Abel, L.A.4    Sheth, N.V.5
  • 9
    • 13544249954 scopus 로고    scopus 로고
    • Current Treatment of Nystagmus
    • Rucker JC. Current Treatment of Nystagmus. Curr Treat Options Neurol 2005; 7:69-77.
    • (2005) Curr Treat Options Neurol , vol.7 , pp. 69-77
    • Rucker, J.C.1
  • 10
    • 33750417746 scopus 로고    scopus 로고
    • Benefits of retroequatorial four horizontal muscle recession surgery in congenital idiopathic nystagmus in adults
    • Boyle NJ, Dawson EL, Lee JP. Benefits of retroequatorial four horizontal muscle recession surgery in congenital idiopathic nystagmus in adults, J AAPOS 2006; 10:404-8.
    • (2006) J AAPOS , vol.10 , pp. 404-408
    • Boyle, N.J.1    Dawson, E.L.2    Lee, J.P.3
  • 12
    • 11244283203 scopus 로고    scopus 로고
    • Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family
    • Zhang B, Xia K, Ding M, Liang D, Liu Z, Pan Q, Hu Z, Wu LQ, Cai F, Xia J. Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family. Hum Genet 2005; 116:128-31.
    • (2005) Hum Genet , vol.116 , pp. 128-131
    • Zhang, B.1    Xia, K.2    Ding, M.3    Liang, D.4    Liu, Z.5    Pan, Q.6    Hu, Z.7    Wu, L.Q.8    Cai, F.9    Xia, J.10
  • 13
    • 31544452824 scopus 로고    scopus 로고
    • Linkage analysis of two families with X-linked recessive congenital motor nystagmus
    • Guo X, Li S, Jia X, Xiao X, Wang P, Zhang Q. Linkage analysis of two families with X-linked recessive congenital motor nystagmus. J Hum Genet 2006; 51:76-80.
    • (2006) J Hum Genet , vol.51 , pp. 76-80
    • Guo, X.1    Li, S.2    Jia, X.3    Xiao, X.4    Wang, P.5    Zhang, Q.6
  • 14
    • 33750466907 scopus 로고    scopus 로고
    • Tarpey P, Thomas S, Sarvananthan N, Mallya U. Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath. RC, Stratton MR, Raymond FL, Gottlob I. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006; 38:1242-4.
    • Tarpey P, Thomas S, Sarvananthan N, Mallya U. Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath. RC, Stratton MR, Raymond FL, Gottlob I. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006; 38:1242-4.
  • 15
    • 34250643196 scopus 로고    scopus 로고
    • Schorderet DF, Tlab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat 2007; 28:525.
    • Schorderet DF, Tlab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat 2007; 28:525.
  • 18
    • 0033790239 scopus 로고    scopus 로고
    • Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization
    • Han BG, Nunomura W, Takakuwa Y, Mohanda, N, Jap BK. Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization. Nat Struct Biol 2000; 7:871-51.
    • (2000) Nat Struct Biol , vol.7 , pp. 871-851
    • Han, B.G.1    Nunomura, W.2    Takakuwa, Y.3    Mohanda, N.4    Jap, B.K.5
  • 19
    • 0036813091 scopus 로고    scopus 로고
    • A novel FERM domain including guanine nucleotide exchange factor is involved in Rac signaling and regulates neurite remodeling
    • Kubo T, Yamashita T, Yamaguchi A, Sumimoto H, Hosokawa K, Tohyama M. A novel FERM domain including guanine nucleotide exchange factor is involved in Rac signaling and regulates neurite remodeling. J Neurosci 2002; 22:8504-13.
    • (2002) J Neurosci , vol.22 , pp. 8504-8513
    • Kubo, T.1    Yamashita, T.2    Yamaguchi, A.3    Sumimoto, H.4    Hosokawa, K.5    Tohyama, M.6
  • 20
    • 0023711405 scopus 로고
    • Nucleotide sequence of the gene encoding the GNT reductase of Escherichia coli K12
    • Andrews SC, Guest JR. Nucleotide sequence of the gene encoding the GNT reductase of Escherichia coli K12. Biochem J 1988; 255:35-43.
    • (1988) Biochem J , vol.255 , pp. 35-43
    • Andrews, S.C.1    Guest, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.