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Volumn 26, Issue 6, 2006, Pages 480-483

Alstrom syndrome in four sibs from northern Jordan

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; CELL PROTEIN; HEMOGLOBIN A1C; HIGH DENSITY LIPOPROTEIN; PROTEIN ALMS1; UNCLASSIFIED DRUG;

EID: 33846706575     PISSN: 02564947     EISSN: 13199226     Source Type: Journal    
DOI: 10.5144/0256-4947.2006.480     Document Type: Article
Times cited : (6)

References (13)
  • 1
    • 70449232246 scopus 로고
    • Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree
    • Alstrom CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 34 1959; (Suppl 129):1-35.
    • (1959) Acta Psychiatr Neurol Scand , vol.34 , Issue.SUPPL. 129 , pp. 1-35
    • Alstrom, C.H.1    Hallgren, B.2    Nilsson, L.B.3    Asander, H.4
  • 2
    • 0035370870 scopus 로고    scopus 로고
    • Early-Onset Liver Disease Complicated With Acute Liver Failure in Alstrom Syndrome
    • Quiros-Tejeira R, Vargas J, Ament M. Early-Onset Liver Disease Complicated With Acute Liver Failure in Alstrom Syndrome. Am J Med Genet 2001; 101:9-11
    • (2001) Am J Med Genet , vol.101 , pp. 9-11
    • Quiros-Tejeira, R.1    Vargas, J.2    Ament, M.3
  • 4
    • 0030732665 scopus 로고    scopus 로고
    • Genealogy, Natural History, and Phenotype of Alstrom Syndrome in a Large Acadian Kindred and Three Additional Families
    • Marshall J, Ludman M, Shea S, Salisbury S, Willi S, LaRoche R, Nishina P. Genealogy, Natural History, and Phenotype of Alstrom Syndrome in a Large Acadian Kindred and Three Additional Families. Am J Med Genet 1997; 73:150-161
    • (1997) Am J Med Genet , vol.73 , pp. 150-161
    • Marshall, J.1    Ludman, M.2    Shea, S.3    Salisbury, S.4    Willi, S.5    LaRoche, R.6    Nishina, P.7
  • 9
    • 0034111554 scopus 로고    scopus 로고
    • The continuing failure to recognize Alstrom syndrome and further evidence of genetic homogeneity Genet
    • Deeble V, Roberts E, Jackson A, Lench N, Karbani G, Woods C The continuing failure to recognize Alstrom syndrome and further evidence of genetic homogeneity. J Med Genet 2000;37:219.
    • (2000) J Med , vol.37 , pp. 219
    • Deeble, V.1    Roberts, E.2    Jackson, A.3    Lench, N.4    Karbani, G.5    Woods, C.6
  • 10
    • 18244407322 scopus 로고    scopus 로고
    • Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: A report of four sibs
    • Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs. Am J Med Genet A 2005;135(1):96-8.
    • (2005) Am J Med Genet A , vol.135 , Issue.1 , pp. 96-98
    • Hoffman, J.D.1    Jacobson, Z.2    Young, T.L.3    Marshall, J.D.4    Kaplan, P.5
  • 11
    • 18344365772 scopus 로고    scopus 로고
    • Consanguineous marriages in Jordan: Why is the rate changing with time?
    • Hamamy H, Jamhawi L, Al-Darawsheh J, Ajlouni K. Consanguineous marriages in Jordan: why is the rate changing with time? Clin Genet 2005; 67(6):511-6.
    • (2005) Clin Genet , vol.67 , Issue.6 , pp. 511-516
    • Hamamy, H.1    Jamhawi, L.2    Al-Darawsheh, J.3    Ajlouni, K.4
  • 12
    • 1242273623 scopus 로고    scopus 로고
    • Alstrom syndrome: Intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene
    • Titomanlio L, De Brasi D, Buoninconti A, Sperandeo M, Pope A, Andria G, Sebastio G. Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. Clin Genet 2004;65: 156-157
    • (2004) Clin Genet , vol.65 , pp. 156-157
    • Titomanlio, L.1    De Brasi, D.2    Buoninconti, A.3    Sperandeo, M.4    Pope, A.5    Andria, G.6    Sebastio, G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.