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Volumn 130, Issue 7, 2012, Pages 901-907

Genotype-phenotype correlations in Bardet-Biedl syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BARDET BIEDL SYNDROME; CATARACT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; MULTIVARIATE ANALYSIS; NULL ALLELE; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY;

EID: 84863793883     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2012.89     Document Type: Article
Times cited : (57)

References (28)
  • 1
    • 0025332276 scopus 로고
    • Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs
    • Croft JB, Swift M. Obesity, hypertension, and renal disease in relatives of Bardet- Biedl syndrome sibs. Am J Med Genet. 1990;36(1):37-42. (Pubitemid 20149867)
    • (1990) American Journal of Medical Genetics , vol.36 , Issue.1 , pp. 37-42
    • Croft, J.B.1    Swift, M.2
  • 2
    • 0029330465 scopus 로고
    • Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development: 1866
    • Laurence JZ, Moon RC. Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development: 1866. Obes Res. 1995;3(4):400-403.
    • (1995) Obes Res , vol.3 , Issue.4 , pp. 400-403
    • Laurence, J.Z.1    Moon, R.C.2
  • 3
    • 0029330538 scopus 로고
    • On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity): 1920
    • Bardet G. On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity): 1920. Obes Res. 1995;3(4):387-399.
    • (1995) Obes Res , vol.3 , Issue.4 , pp. 387-399
    • Bardet, G.1
  • 4
    • 0029331385 scopus 로고
    • A pair of siblings with adiposo-genital dystrophy: 1922
    • Biedl A. A pair of siblings with adiposo-genital dystrophy: 1922. Obes Res. 1995; 3(4):404.
    • (1995) Obes Res , vol.3 , Issue.4 , pp. 404
    • Biedl, A.1
  • 5
    • 0022970542 scopus 로고
    • Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype
    • Rizzo JF III, Berson EL, Lessell S. Retinal and neurologic findings in the Laurence- Moon-Bardet-Biedl phenotype. Ophthalmology. 1986;93(11):1452-1456. (Pubitemid 17211866)
    • (1986) Ophthalmology , vol.93 , Issue.11 , pp. 1452-1456
    • Rizzo III, J.F.1    Berson, E.L.2    Lessell, S.3
  • 7
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-446. (Pubitemid 29267741)
    • (1999) Journal of Medical Genetics , vol.36 , Issue.6 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 8
    • 65649147891 scopus 로고    scopus 로고
    • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
    • Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009;119(3):428-437.
    • (2009) J Clin Invest , vol.119 , Issue.3 , pp. 428-437
    • Zaghloul, N.A.1    Katsanis, N.2
  • 9
    • 77956505731 scopus 로고    scopus 로고
    • Planar cell polarity acts through septins to control collective cell movement and ciliogenesis
    • Kim SK, Shindo A, Park TJ, et al. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science. 2010;329(5997):1337-1340.
    • (2010) Science , vol.329 , Issue.5997 , pp. 1337-1340
    • Kim, S.K.1    Shindo, A.2    Park, T.J.3
  • 11
    • 33646354641 scopus 로고    scopus 로고
    • BBS10 encodes a vertebrate-specific chaperonin- like protein and is a major BBS locus
    • Stoetzel C, Laurier V, Davis EE, et al. BBS10 encodes a vertebrate-specific chaperonin- like protein and is a major BBS locus. Nat Genet. 2006;38(5):521-524.
    • (2006) Nat Genet , vol.38 , Issue.5 , pp. 521-524
    • Stoetzel, C.1    Laurier, V.2    Davis, E.E.3
  • 12
    • 77951629928 scopus 로고    scopus 로고
    • Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease
    • Muller J, Stoetzel C, Vincent MC, et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010;127(5):583-593.
    • (2010) Hum Genet , vol.127 , Issue.5 , pp. 583-593
    • Muller, J.1    Stoetzel, C.2    Vincent, M.C.3
  • 13
    • 80051754838 scopus 로고    scopus 로고
    • BBS mutational analysis: A strategic approach
    • Billingsley G, Deveault C, Héon E. BBS mutational analysis: a strategic approach. Ophthalmic Genet. 2011;32(3):181-187.
    • (2011) Ophthalmic Genet , vol.32 , Issue.3 , pp. 181-187
    • Billingsley, G.1    Deveault, C.2    Héon, E.3
  • 14
    • 33646562887 scopus 로고    scopus 로고
    • Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
    • Chiang AP, Beck JS, Yen HJ, et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A. 2006;103(16):6287-6292.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.16 , pp. 6287-6292
    • Chiang, A.P.1    Beck, J.S.2    Yen, H.J.3
  • 16
    • 33749054088 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: An emerging pathomechanism of intracellular transport
    • DOI 10.1007/s00018-006-6180-x
    • Blacque OE, Leroux MR. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci. 2006;63(18):2145-2161. (Pubitemid 44465688)
    • (2006) Cellular and Molecular Life Sciences , vol.63 , Issue.18 , pp. 2145-2161
    • Blacque, O.E.1    Leroux, M.R.2
  • 17
    • 0036822557 scopus 로고    scopus 로고
    • The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene
    • Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC. The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. Arch Ophthalmol. 2002;120(10):1364-1367. (Pubitemid 36105442)
    • (2002) Archives of Ophthalmology , vol.120 , Issue.10 , pp. 1364-1367
    • Riise, R.1    Tornqvist, K.2    Wright, A.F.3    Mykytyn, K.4    Sheffield, V.C.5
  • 18
    • 79957587544 scopus 로고    scopus 로고
    • BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
    • Deveault C, Billingsley G, Duncan JL, et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat. 2011;32(6):610-619.
    • (2011) Hum Mutat , vol.32 , Issue.6 , pp. 610-619
    • Deveault, C.1    Billingsley, G.2    Duncan, J.L.3
  • 19
    • 80052941208 scopus 로고    scopus 로고
    • Molecular analysis of Bardet-Biedl syndrome families: Report of 21 novel mutations in 10 genes
    • Chen J, Smaoui N, Hammer MB, et al. Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci. 2011;52(8):5317-5324.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , Issue.8 , pp. 5317-5324
    • Chen, J.1    Smaoui, N.2    Hammer, M.B.3
  • 22
    • 77956096031 scopus 로고    scopus 로고
    • Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
    • Billingsley G, Bin J, Fieggen KJ, et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet. 2010;47(7):453-463.
    • (2010) J Med Genet , vol.47 , Issue.7 , pp. 453-463
    • Billingsley, G.1    Bin, J.2    Fieggen, K.J.3
  • 25
    • 77953879123 scopus 로고    scopus 로고
    • The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia
    • Jin H, White SR, Shida T, et al. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell. 2010;141(7): 1208-1219.
    • (2010) Cell , vol.141 , Issue.7 , pp. 1208-1219
    • Jin, H.1    White, S.R.2    Shida, T.3
  • 26
    • 76549121983 scopus 로고    scopus 로고
    • BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
    • Seo S, Baye LM, Schulz NP, et al. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A. 2010;107(4):1488-1493.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.4 , pp. 1488-1493
    • Seo, S.1    Baye, L.M.2    Schulz, N.P.3
  • 27
    • 34249993483 scopus 로고    scopus 로고
    • Taking Vesicular Transport to the Cilium
    • DOI 10.1016/j.cell.2007.05.049, PII S0092867407007246
    • Leroux MR. Taking vesicular transport to the cilium. Cell. 2007;129(6):1041-1043. (Pubitemid 46891046)
    • (2007) Cell , vol.129 , Issue.6 , pp. 1041-1043
    • Leroux, M.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.