메뉴 건너뛰기




Volumn 131, Issue 19, 2008, Pages 741-746

Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications;Presentación de un caso con síndrome de Alström: aspectos clínicos, moleculares y guías diagnósticas y anticipatorias

Author keywords

Alstr m syndrome; Molecular diagnosis

Indexed keywords

ADULT; ALSTROM SYNDROME; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; DIAGNOSTIC ERROR; GENE MUTATION; HEREDITY; HUMAN; MALE;

EID: 63349083872     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/S0025-7753(08)75490-3     Document Type: Article
Times cited : (6)

References (20)
  • 1
    • 70449232246 scopus 로고
    • Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree
    • Alström C.H., Hallgren B., Nilsson L.B., and Åsander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl 129 (1959) 1-35
    • (1959) Acta Psychiatr Neurol Scand Suppl , vol.129 , pp. 1-35
    • Alström, C.H.1    Hallgren, B.2    Nilsson, L.B.3    Åsander, H.4
  • 2
    • 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
    • Minton J.A., Owen K.R., Ricketts C.J., Crabtree N., Shaikh G., Ehtisham S., et al. 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    Crabtree, N.4    Shaikh, G.5    Ehtisham, S.6
  • 3
    • 26444607754 scopus 로고    scopus 로고
    • The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy
    • Bond J., Flintoff K., Higgins J., Scott S., Bennet C., Parsons J., et al. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet 42 (2005) e10
    • (2005) J Med Genet , vol.42
    • Bond, J.1    Flintoff, K.2    Higgins, J.3    Scott, S.4    Bennet, C.5    Parsons, J.6
  • 4
    • 0030732665 scopus 로고    scopus 로고
    • Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families
    • Marshall J.D., Ludman M.D., Shea S.E., Salisbury S.R., Willi S.M., LaRoche R.G., et al. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am J Med Genet 73 (1997) 150-161
    • (1997) Am J Med Genet , vol.73 , pp. 150-161
    • Marshall, J.D.1    Ludman, M.D.2    Shea, S.E.3    Salisbury, S.R.4    Willi, S.M.5    LaRoche, R.G.6
  • 6
    • 0021993424 scopus 로고
    • Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor
    • Rüdiger H.W., Ahrens P., Dreyer M., Frorath B., Löffel C., and Schmidt-Preuss U. Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. Hum Genet 69 (1985) 76-78
    • (1985) Hum Genet , vol.69 , pp. 76-78
    • Rüdiger, H.W.1    Ahrens, P.2    Dreyer, M.3    Frorath, B.4    Löffel, C.5    Schmidt-Preuss, U.6
  • 8
    • 0032213761 scopus 로고    scopus 로고
    • Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome
    • Collin G.B., Nishina P.M., Marshall J.D., and Naggert J.K. Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome. Genomics 53 (1998) 359-364
    • (1998) Genomics , vol.53 , pp. 359-364
    • Collin, G.B.1    Nishina, P.M.2    Marshall, J.D.3    Naggert, J.K.4
  • 10
    • 18544391142 scopus 로고    scopus 로고
    • Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
    • Hearn T., Renforth G.L., Spalluto C., Hanley N.A., Piper K., Brickwood S., et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet 31 (2002) 79-83
    • (2002) Nat Genet , vol.31 , pp. 79-83
    • Hearn, T.1    Renforth, G.L.2    Spalluto, C.3    Hanley, N.A.4    Piper, K.5    Brickwood, S.6
  • 11
    • 0036578890 scopus 로고    scopus 로고
    • Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
    • Collin G.B., Marshall J.D., Ikeda A., So W.V., Russell-Eggitt I., Maffei P., et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 31 (2002) 74-78
    • (2002) Nat Genet , vol.31 , pp. 74-78
    • Collin, G.B.1    Marshall, J.D.2    Ikeda, A.3    So, W.V.4    Russell-Eggitt, I.5    Maffei, P.6
  • 12
    • 17844367633 scopus 로고    scopus 로고
    • Subcellular localization 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., Phillips V.J., Renforth G.L., Copin N., Hanley N.A., et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 54 (2005) 1581-1587
    • (2005) Diabetes , vol.54 , pp. 1581-1587
    • Hearn, T.1    Spalluto, C.2    Phillips, V.J.3    Renforth, G.L.4    Copin, N.5    Hanley, N.A.6
  • 14
    • 35648990040 scopus 로고    scopus 로고
    • Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome
    • Marshall J.D., Hinman E.G., Collin G.B., Beck S., Cerqueira R., Maffei P., et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat 28 (2007) 1114-1123
    • (2007) Hum Mutat , vol.28 , pp. 1114-1123
    • Marshall, J.D.1    Hinman, E.G.2    Collin, G.B.3    Beck, S.4    Cerqueira, R.5    Maffei, P.6
  • 16
    • 20844457764 scopus 로고    scopus 로고
    • Medicina preventiva y fracaso clamoroso de la salud pública: llegamos mal porque llegamos tarde
    • Martínez-González M., and De Irala J. Medicina preventiva y fracaso clamoroso de la salud pública: llegamos mal porque llegamos tarde. Med Clin (Barc) 124 (2005) 656-660
    • (2005) Med Clin (Barc) , vol.124 , pp. 656-660
    • Martínez-González, M.1    De Irala, J.2
  • 17
    • 0024472754 scopus 로고
    • The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
    • Green J.S., Parfrey P.S., Harnett J.D., Farid N.R., Cramer B.C., Johnson G., et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321 (1989) 1002-1009
    • (1989) N Engl J Med , vol.321 , pp. 1002-1009
    • Green, J.S.1    Parfrey, P.S.2    Harnett, J.D.3    Farid, N.R.4    Cramer, B.C.5    Johnson, G.6
  • 18
    • 0035929273 scopus 로고    scopus 로고
    • Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder
    • Katsanis N., Ansley S.J., Badano J.L., Eichers E.R., Lewis R.A., Hoskins B.E., et al. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. Science 293 (2001) 2256-2259
    • (2001) Science , vol.293 , pp. 2256-2259
    • Katsanis, N.1    Ansley, S.J.2    Badano, J.L.3    Eichers, E.R.4    Lewis, R.A.5    Hoskins, B.E.6
  • 20
    • 0142104970 scopus 로고    scopus 로고
    • Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
    • Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425 (2003) 628-633
    • (2003) Nature , vol.425 , pp. 628-633
    • Ansley, S.J.1    Badano, J.L.2    Blacque, O.E.3    Hill, J.4    Hoskins, B.E.5    Leitch, C.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.