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British Journal of Ophthalmology
Volumn 91, Issue 7, 2007, Pages 983-984
Exudative retinopathy in a girl with alström syndrome due to a novel mutation [7]
Author keywords

[No Author keywords available]
Indexed keywords

ALSTROM SYNDROME; CASE REPORT; CHROMOSOME 2P; CLINICAL EXAMINATION; CLINICAL FEATURE; CRYOTHERAPY; DIVERGENT STRABISMUS; EXON; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; LASER COAGULATION; LETTER; NEOVASCULARIZATION (PATHOLOGY); OPHTHALMOSCOPY; PAKISTAN; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA DYSTROPHY; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA ISCHEMIA; RETINOPATHY; SCHOOL CHILD; SLIT LAMP; VISUAL ACUITY; VITRECTOMY;
EID: 34347343960     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2005.088781     Document Type: Letter
Times cited : (7)
References (10)
  • 2
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  • 3
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    • Subcellular localisation of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance and type 2 diabetes
    • Hearn T, Spalluto C, Philips VJ, et al. Subcellular localisation of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance and type 2 diabetes. Diabetes 2005;54:1581-1587.
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    • Hearn, T.1    Spalluto, C.2    Philips, V.J.3
  • 4
    • 2942521612 scopus 로고    scopus 로고
    • Cilia and flagella revealed: From flagellar assembly in Chlamydomonas to Human Obesity Syndrome
    • Snell WJ, Pan J, Wang Q. Cilia and flagella revealed: From flagellar assembly in Chlamydomonas to Human Obesity Syndrome. Cell 2004;117:693-697.
    • (2004) Cell , vol.117 , pp. 693-697
    • Snell, W.J.1    Pan, J.2    Wang, Q.3
  • 5
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    • The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy
    • Bond J, Flintoff K, Higgins J, et al. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet 2005;42:1-3.
    • (2005) J Med Genet , vol.42 , pp. 1-3
    • Bond, J.1    Flintoff, K.2    Higgins, J.3
  • 6
    • 0031596498 scopus 로고    scopus 로고
    • Alström Syndrome. Report of 22 cases & Literature Review
    • Russell- Eggitt IM, Clayton PT, Coffey R, et al. Alström Syndrome. Report of 22 cases & Literature Review. Ophthalmology 1998;105:1274-1280.
    • (1998) Ophthalmology , vol.105 , pp. 1274-1280
    • Russell- Eggitt, I.M.1    Clayton, P.T.2    Coffey, R.3
  • 7
    • 0034964652 scopus 로고    scopus 로고
    • Leber congenital amaurosis and retinitis pigmentosa with coats like exudative vasculopathy are associated with mutations in crumbs homologue 1 (CRB 1) gene
    • Jul
    • Den Hollander AI, Heckenlively JR, Van den Born LI, et al. Leber congenital amaurosis and retinitis pigmentosa with coats like exudative vasculopathy are associated with mutations in crumbs homologue 1 (CRB 1) gene. Am J Hum Genet, 2001 Jul, 69:198-203.
    • (2001) Am J Hum Genet , vol.69 , pp. 198-203
    • Den Hollander, A.I.1    Heckenlively, J.R.2    Van den Born, L.I.3
  • 8
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    • Two cases of retinitis pigmentosa associated with retinal vasculopathy
    • Koshibu A, Uyama A, Matoba H, et al. Two cases of retinitis pigmentosa associated with retinal vasculopathy. Jpn J Clin Ophthalmol 1979;33:1523-1532.
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  • 9
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  • 10
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.