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Volumn 19, Issue 2, 1998, Pages 90-93

Dystonia in a patient with deletion of 18p

Author keywords

Chromosome 18p ; Deletion; Dystonia

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 18; CHROMOSOME DELETION; DYSTONIA; FACIES; GENETICS; HUMAN; MALE; MENTAL DEFICIENCY; PHENOTYPE;

EID: 0032034491     PISSN: 03920461     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02427563     Document Type: Article
Times cited : (22)

References (13)
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    • de Grouchy J, Lamy M, Thieffry S, Arthuis M, Salmon C (1963) Dysmorphie complexe avec oligophrenie: Délécion des bras courts d'un chromosome 17-18. C R Acad Sci256:1028-1029
    • (1963) C R Acad Sci , vol.256 , pp. 1028-1029
    • Grouchy, J.1    Lamy, M.2    Thieffry, S.3    Arthuis, M.4    Salmon, C.5
  • 3
    • 33746374862 scopus 로고
    • Catalogue of unbalanced chromosome aberrations in man
    • Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. De Gruyter, New York, Berlin
    • (1984) De Gruyter, New York, Berlin
    • Schinzel, A.1
  • 5
    • 0017258365 scopus 로고
    • Nanismo ipofisario e sindrome malformativa multipla tipo Goldenhar in soggetto con delezione del braccio corto del cromosoma 18
    • Buffoni L, Tarateta A, Aicardi G et al (1976) Nanismo ipofisario e sindrome malformativa multipla tipo Goldenhar in soggetto con delezione del braccio corto del cromosoma 18. Minerva Pediatr 28:716-729
    • (1976) Minerva Pediatr , vol.28 , pp. 716-729
    • Buffoni, L.1    Tarateta, A.2    Aicardi, G.3
  • 9
    • 0028029401 scopus 로고
    • The 18p- Syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect
    • Kakinuma S, Sasabe F, Negoro K, Nogaki H, Morimatsu M (1994) The 18p- syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect. Rinsho Shinkeigaku 34(5):474-478
    • (1994) Rinsho Shinkeigaku , vol.34 , Issue.5 , pp. 474-478
    • Kakinuma, S.1    Sasabe, F.2    Negoro, K.3    Nogaki, H.4    Morimatsu, M.5
  • 10
    • 0029798561 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
    • Leube B. Rudnicki D, Ratzlaff T, Kessler KR, Benecke R. Auburger G (1996) Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5:1673-1677
    • (1996) Hum Mol Genet , vol.5 , pp. 1673-1677
    • Rudnicki D, L.B.1    Ratzlaff, T.2    Kessler, K.R.3    Auburger G, B.R.4
  • 11
  • 12
    • 0025238901 scopus 로고
    • Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34
    • Ozelius L. Kramer PL, Moskovitz CB et al (1990) Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 27:114-120
    • (1990) Ann Neurol , vol.27 , pp. 114-120
    • Kramer, P.1
  • 13
    • 0025062380 scopus 로고
    • The dystonias
    • MarsdenCD, Quinn NP (1990) The dystonias. BMJ 300:139144
    • (1990) BMJ , vol.300 , pp. 139144
    • Marsdencd Quinn, N.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.