메뉴 건너뛰기




Volumn 84, Issue 1, 2006, Pages 36-41

Visual impairment in Finnish Usher syndrome type III

Author keywords

Functional vision score; Phenotype genotype correlation; Retinitis pigmentosa; USH3; Usher syndrome; Visual field deterioration

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FINLAND; GENOTYPE; HUMAN; LONGITUDINAL STUDY; NETHERLANDS; NONLINEAR REGRESSION ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCORING SYSTEM; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; STUDENT T TEST; USHER SYNDROME; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT;

EID: 33644778800     PISSN: 13953907     EISSN: 16000420     Source Type: Journal    
DOI: 10.1111/j.1600-0420.2005.00507.x     Document Type: Article
Times cited : (17)

References (20)
  • 2
    • 0036021030 scopus 로고    scopus 로고
    • USH3 transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
    • Adato A, Vreugde S, Joensuu T et al. (2002): USH3 transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 10: 339-350.
    • (2002) Eur J Hum Genet , vol.10 , pp. 339-350
    • Adato, A.1    Vreugde, S.2    Joensuu, T.3
  • 3
    • 1942449758 scopus 로고    scopus 로고
    • The visual system
    • American Medical Association Cocchiarella L & Anderson GBJ (eds). 5th edn. Chicago: American Medical Association Press
    • American Medical Association (2001): The visual system. In: Cocchiarella L & Anderson GBJ (eds). Guides to the Evaluation of Permanent Impairment. 5th edn. Chicago: American Medical Association Press 277-304.
    • (2001) Guides to the Evaluation of Permanent Impairment , pp. 277-304
  • 4
    • 0030983803 scopus 로고    scopus 로고
    • Cataracta complicata bei verschiedenen Formen der Retinitis Pigmentosa. Art und Häufigkeit
    • Auffarth GU, Tetz MR, Krastel H, Blankenagel A & Volcker HE (1997): Cataracta complicata bei verschiedenen Formen der Retinitis Pigmentosa. Art und Häufigkeit. Ophthalmologe 94: 642-646.
    • (1997) Ophthalmologe , vol.94 , pp. 642-646
    • Auffarth, G.U.1    Tetz, M.R.2    Krastel, H.3    Blankenagel, A.4    Volcker, H.E.5
  • 6
    • 0029007141 scopus 로고
    • Prevalence of foveal lesions in type 1 and type 2 Usher's syndrome
    • Fishman GA, Anderson RJ, Lam BL & Derlacki DJ (1995): Prevalence of foveal lesions in type 1 and type 2 Usher's syndrome. Arch Ophthalmol 113: 770-773.
    • (1995) Arch Ophthalmol , vol.113 , pp. 770-773
    • Fishman, G.A.1    Anderson, R.J.2    Lam, B.L.3    Derlacki, D.J.4
  • 7
    • 0020599803 scopus 로고
    • Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity
    • Fishman GA, Kumar A, Joseph ME, Torok N & Anderson RJ (1983): Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol 101: 1367-1374.
    • (1983) Arch Ophthalmol , vol.101 , pp. 1367-1374
    • Fishman, G.A.1    Kumar, A.2    Joseph, M.E.3    Torok, N.4    Anderson, R.J.5
  • 8
    • 0034835042 scopus 로고    scopus 로고
    • Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
    • Joensuu T, Hämäläinen R, Yuan B et al. (2001): Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 69: 673-684.
    • (2001) Am J Hum Genet , vol.69 , pp. 673-684
    • Joensuu, T.1    Hämäläinen, R.2    Yuan, B.3
  • 11
    • 0032869123 scopus 로고    scopus 로고
    • Molecular genetics of the Finnish disease heritage
    • Peltonen L, Jalanko A & Varilo T (1999): Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8: 1913-1923.
    • (1999) Hum Mol Genet , vol.8 , pp. 1913-1923
    • Peltonen, L.1    Jalanko, A.2    Varilo, T.3
  • 12
    • 1942420648 scopus 로고    scopus 로고
    • Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a
    • Pennings RJ E, Huygen PL M, Orten DJ et al. (2004): Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. Acta Ophthalmol Scand 82 (2): 131-139.
    • (2004) Acta Ophthalmol Scand , vol.82 , Issue.2 , pp. 131-139
    • Pennings, R.J.E.1    Huygen, P.L.M.2    Orten, D.J.3
  • 17
    • 0036951477 scopus 로고    scopus 로고
    • Prevalence and geographical distribution of Usher syndrome in Germany
    • Spandau UHM & Rohrschneider K (2002): Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol 240: 495-498.
    • (2002) Graefes Arch Clin Exp Ophthalmol , vol.240 , pp. 495-498
    • Spandau, U.H.M.1    Rohrschneider, K.2
  • 18
    • 0036117719 scopus 로고    scopus 로고
    • Usher syndrome clinical types 1 and 2: Could ocular symptoms and signs differentiate between the two types?
    • Tsilou ET, Rubin BI, Caruso RC et al. (2002): Usher syndrome clinical types 1 and 2: Could ocular symptoms and signs differentiate between the two types? Acta Ophthalmol Scand 80: 196-201.
    • (2002) Acta Ophthalmol Scand , vol.80 , pp. 196-201
    • Tsilou, E.T.1    Rubin, B.I.2    Caruso, R.C.3
  • 19
    • 0001571918 scopus 로고
    • On the inheritance of retinitis pigmentosa with notes of cases
    • Usher CH (1916): On the inheritance of retinitis pigmentosa with notes of cases. R Lond Ophthalmol Hosp Rep 19: 130-236.
    • (1916) R Lond Ophthalmol Hosp Rep , vol.19 , pp. 130-236
    • Usher, C.H.1
  • 20
    • 33644761093 scopus 로고    scopus 로고
    • Hereditary Hearing Loss Homepage (HHH). [Accessed July 1 2004.]
    • Van Camp G & Smith RJH. Hereditary Hearing Loss Homepage (HHH). http://www.dnalab-www.uia.ac.be/dnalab/hhh. [Accessed July 1 2004.]
    • Van Camp, G.1    Smith, R.J.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.