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Volumn 8, Issue 4, 2004, Pages 345-348

Ophthalmic manifestations of Wolf-Hirschhorn syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CHORIORETINOPATHY; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CLINICAL FEATURE; COLOBOMA; CONTROLLED STUDY; CORNEA DISEASE; EPICANTHUS; EYE DISEASE; FEMALE; HUMAN; HYPERTELORISM; IMPAIRED GLUCOSE TOLERANCE; KARYOTYPE; LACRIMAL DUCT OCCLUSION; MALE; MEDICAL RECORD; NYSTAGMUS; OPTIC DISK ANOMALY; PATHOGENESIS; PRIORITY JOURNAL; RETINA FOVEA; REVIEW; SYMPTOM; WOLF HIRSCHHORN SYNDROME;

EID: 4043131059     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2004.04.009     Document Type: Article
Times cited : (18)

References (13)
  • 2
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  • 4
    • 0013834960 scopus 로고
    • Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion
    • Hirschhorn K.C.H., Firschein I.L. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1:1965;479-482
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    • Hirschhorn, K.C.H.1    Firschein, I.L.2
  • 6
    • 0033949022 scopus 로고    scopus 로고
    • Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
    • Wieczorek D., Majewski F., Albrecht B., Horn D., Riess O., Gillessen-Kaesbach G. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome analysis of 13 patients with a de novo deletion. Eur J Hum Genet. 8:2000;519-526
    • (2000) Eur J Hum Genet , vol.8 , pp. 519-526
    • Wieczorek, D.1    Majewski, F.2    Albrecht, B.3    Horn, D.4    Riess, O.5    Gillessen-Kaesbach, G.6
  • 7
    • 0037373130 scopus 로고    scopus 로고
    • Mapping the Wolf-Hirschhorn Syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    • Zollino M., Fischetto R., Murdolo M., Faravelli F., Selicorni A., Buttè C., Memo L., Capovilla G., Neri G. Mapping the Wolf-Hirschhorn Syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. 72:2003;590-597
    • (2003) Am J Hum Genet , vol.72 , pp. 590-597
    • Zollino, M.1    Fischetto, R.2    Murdolo, M.3    Faravelli, F.4    Selicorni, A.5    Buttè, C.6    Memo, L.7    Capovilla, G.8    Neri, G.9
  • 8
    • 0028097893 scopus 로고
    • Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome
    • Estabrooks L.L., Lamb A.N., Aylsworth A.S., Callanan N.P., Rao K.W. Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet. 31:1994;103-107
    • (1994) J Med Genet , vol.31 , pp. 103-107
    • Estabrooks, L.L.1    Lamb, A.N.2    Aylsworth, A.S.3    Callanan, N.P.4    Rao, K.W.5
  • 10
    • 0021276842 scopus 로고
    • Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates
    • Stengel-Rutkowski S., Warkotsch A., Schimanek P., Stene J. Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates. Clin Genet. 25:1984;500-521
    • (1984) Clin Genet , vol.25 , pp. 500-521
    • Stengel-Rutkowski, S.1    Warkotsch, A.2    Schimanek, P.3    Stene, J.4
  • 11
    • 0024477549 scopus 로고
    • Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn)
    • Mayer U.M., Bialasiewicz A.A. Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn). Ophthalmic Paediatr Genet. 10:1989;69-72
    • (1989) Ophthalmic Paediatr Genet , vol.10 , pp. 69-72
    • Mayer, U.M.1    Bialasiewicz, A.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.