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Volumn 79, Issue 6, 2011, Pages 691-

The Case | Familial occurrence of retinitis pigmentosa, deafness, and nephropathy

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHRONIC KIDNEY FAILURE; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; ECHOCARDIOGRAPHY; FAMILY; FEMALE; HAPLOTYPE; HEARING IMPAIRMENT; HEART MUSCLE BIOPSY; HEART MUSCLE FIBROSIS; HUMAN; HUMAN TISSUE; INSULIN RESISTANCE; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FIBROSIS; NOTE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; ALSTROM SYNDROME; ARTICLE; BIOPSY; GENETIC PREDISPOSITION; GENETICS; HEREDITY; INTERSTITIAL NEPHRITIS; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE;

EID: 79952148702     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2010.514     Document Type: Article
Times cited : (10)

References (5)
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    • 34249871086 scopus 로고    scopus 로고
    • Nephronophthisis-associated ciliopathies
    • F. Hildebrandt W. Zhou Nephronophthisis-associated ciliopathies J Am Soc Nephrol 18 2007 1855 1871
    • (2007) J Am Soc Nephrol , vol.18 , pp. 1855-1871
    • Hildebrandt, F.1    Zhou, W.2
  • 3
    • 20144362826 scopus 로고    scopus 로고
    • New Alström syndrome phenotypes based on the evaluation of 182 cases
    • J.D. Marshall R. Bronson G. Collin New Alström syndrome phenotypes based on the evaluation of 182 cases Arch Intern Med 165 2005 675 683
    • (2005) Arch Intern Med , vol.165 , pp. 675-683
    • Marshall, J.D.1    Bronson, R.2    Collin, G.3
  • 4
    • 33747724012 scopus 로고    scopus 로고
    • Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome
    • J.A. Minton K.R. Owen C.J. Ricketts Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome J Clin Endocrinol Metab 91 2006 3110 3116
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 3110-3116
    • Minton, J.A.1    Owen, K.R.2    Ricketts, C.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.