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Volumn 26, Issue 2, 2011, Pages 214-216

End stage renal disease, differential diagnosis, a rare genetic disorder: Bardet-Biedl syndrome: Case report and review

Author keywords

Bardet Biedl syndrome; Differential diagnosis; End stage renal disease

Indexed keywords


EID: 84897965489     PISSN: 09701915     EISSN: 09740422     Source Type: Journal    
DOI: 10.1007/s12291-011-0116-4     Document Type: Article
Times cited : (9)

References (23)
  • 3
    • 0028128537 scopus 로고
    • Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
    • DOI 10.1038/ng0594-108
    • Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA. Bardet-Biedl syndromes is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat. Genet. 1994;7:108-12. (Pubitemid 24232390)
    • (1994) Nature Genetics , vol.7 , Issue.1 , pp. 108-112
    • Leppert, M.1    Baird, L.2    Anderson, K.L.3    Otterud, B.4    Lupski, J.R.5    Lewis, R.A.6
  • 5
    • 77953434944 scopus 로고    scopus 로고
    • Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease
    • Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T. Renal transplant in a child with Bardet-Biedl syndrome : a rare cause of end-stage renal disease. Indian J Nephrol. 2009;19(3):112-4.
    • (2009) Indian J Nephrol , vol.19 , Issue.3 , pp. 112-114
    • Hooda, A.K.1    Karan, S.C.2    Bishnoi, J.S.3    Nandwani, A.4    Sinha, T.5
  • 7
    • 0029381034 scopus 로고
    • Laurence-Moon-Bardet-Biedl syndrome
    • Pal S, Bhattacharyya AR. Laurence-Moon-Bardet-Biedl syndrome. J Indian Med Assoc. 1995;93(10):391-3.
    • (1995) J Indian Med Assoc , vol.93 , Issue.10 , pp. 391-393
    • Pal, S.1    Bhattacharyya, A.R.2
  • 8
    • 31044433619 scopus 로고    scopus 로고
    • A rare presentation of Bardet - Biedl syndrome with renal failure, severe osteodystrophy and multiple fractures [1]
    • Gupta S, Goel D, Singhal A. A rare presentation of Bardet-Biedl syndrome with renal failure, severe osteodystrophy and multiple fractures. Indian J Hum Genet. 2005;11:159-60. (Pubitemid 43120861)
    • (2005) Indian Journal of Human Genetics , vol.11 , Issue.3 , pp. 159-160
    • Gupta, S.1    Goel, D.2    Singhal, A.3
  • 13
    • 34147110360 scopus 로고    scopus 로고
    • Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis
    • DOI 10.1016/j.biocel.2007.02.014, PII S135727250700074X
    • Forti E, Aksanov O, Birk RZ. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Int J Biochem Cell Biol. 2007;39:1055-62. (Pubitemid 46575335)
    • (2007) International Journal of Biochemistry and Cell Biology , vol.39 , Issue.5 , pp. 1055-1062
    • Forti, E.1    Aksanov, O.2    Birk, R.Z.3
  • 17
  • 21
    • 1842579395 scopus 로고    scopus 로고
    • The oligogenic properties of Bardet-Biedl syndrome
    • Complex Diseases
    • Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004;13(suppl 1):R65-71. (Pubitemid 38443800)
    • (2004) Human Molecular Genetics , vol.13 , Issue.REV. ISS. 1
    • Katsanis, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.