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Volumn 21, Issue 2, 2006, Pages 87-90

The molecular genetics of Congenital Idiopathic Nystagmus

Author keywords

X linked nystagmus

Indexed keywords

ACCURACY; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL EXAMINATION; CONFERENCE PAPER; CONGENITAL NYSTAGMUS; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; DISEASE TRANSMISSION; EVOKED VISUAL RESPONSE; EXTRAOCULAR MUSCLE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; IDIOPATHIC DISEASE; MOLECULAR GENETICS; OCULOMOTOR SYSTEM; PATHOGENESIS; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; VISUAL SYSTEM; X CHROMOSOME LINKAGE;

EID: 33646866608     PISSN: 08820538     EISSN: 17445205     Source Type: Journal    
DOI: 10.1080/08820530600614017     Document Type: Conference Paper
Times cited : (16)

References (18)
  • 2
  • 5
    • 0027222871 scopus 로고
    • Congenital nystagmus cosegregating with a balanced 7;15 translocation
    • Patton MA, Jeffery S, Lee N, Hogg C. Congenital nystagmus cosegregating with a balanced 7;15 translocation. J Med Genet 1993; 30:526-8.
    • (1993) J Med Genet , vol.30 , pp. 526-528
    • Patton, M.A.1    Jeffery, S.2    Lee, N.3    Hogg, C.4
  • 7
    • 4444292644 scopus 로고    scopus 로고
    • Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family
    • Hoffmann S, Becker A, Hoerle S, Metz A, Oertel WH, Sommer N, Hemmer B. Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family. Am J Ophthalmol 2004; 138:439-43.
    • (2004) Am J Ophthalmol , vol.138 , pp. 439-443
    • Hoffmann, S.1    Becker, A.2    Hoerle, S.3    Metz, A.4    Oertel, W.H.5    Sommer, N.6    Hemmer, B.7
  • 10
    • 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
  • 11
    • 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
  • 12
    • 0024205113 scopus 로고
    • Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients - Autosomal dominant and x-chromosome recessive modes of inheritance
    • Shallo-Hoffmann J, Watermeier D, Petersen J, Muhlendyck H. Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients - autosomal dominant and x-chromosome recessive modes of inheritance. Neurosurg Rev 1988; 11:151-8.
    • (1988) Neurosurg Rev , vol.11 , pp. 151-158
    • Shallo-Hoffmann, J.1    Watermeier, D.2    Petersen, J.3    Muhlendyck, H.4
  • 15
    • 0043011605 scopus 로고    scopus 로고
    • Ultrastructural study of proprioceptors in extraocular muscles of congenital nystagmus subjects
    • Cheng H, Yang JC, Xia H. Ultrastructural study of proprioceptors in extraocular muscles of congenital nystagmus subjects. Zhonghua Yan Ke Za Zhi 2003; 39:24-7.
    • (2003) Zhonghua Yan Ke Za Zhi , vol.39 , pp. 24-27
    • Cheng, H.1    Yang, J.C.2    Xia, H.3
  • 16
    • 0036777052 scopus 로고    scopus 로고
    • Neuroanatomy of the extraocular muscle tendon enthesis in macaque, normal human, and patients with congenital nystagmus
    • Hertle RW, Chan CC, Galita DA, Maybodi M, Crawford MA. Neuroanatomy of the extraocular muscle tendon enthesis in macaque, normal human, and patients with congenital nystagmus. J AAPOS 2002; 6:319-27.
    • (2002) J AAPOS , vol.6 , pp. 319-327
    • Hertle, R.W.1    Chan, C.C.2    Galita, D.A.3    Maybodi, M.4    Crawford, M.A.5
  • 17
    • 0033050850 scopus 로고    scopus 로고
    • Congenital nystagmus associated with multiple congenital anomalies of the extraocular muscles
    • Chaum E, Hatton MP. Congenital nystagmus associated with multiple congenital anomalies of the extraocular muscles. J Pediatr Ophthalmol Strabismus 1999; 36:155-7.
    • (1999) J Pediatr Ophthalmol Strabismus , vol.36 , pp. 155-157
    • Chaum, E.1    Hatton, M.P.2
  • 18
    • 0031983589 scopus 로고    scopus 로고
    • Ultrastructural study of extraocular muscle in congenital nystagmus
    • Peng GH, Zhang C, Yang JC. Ultrastructural study of extraocular muscle in congenital nystagmus. Ophthalmologica 1998; 212:1-4.
    • (1998) Ophthalmologica , vol.212 , pp. 1-4
    • Peng, G.H.1    Zhang, C.2    Yang, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.