메뉴 건너뛰기




Volumn 122 A, Issue 1, 2003, Pages 76-79

Patient with Kabuki syndrome and acute leukemia

Author keywords

Acute lymphocytic leukemia; Immunodeficiency; Kabuki (Niikawa Kuroki) syndrome

Indexed keywords

IMMUNOGLOBULIN A; IMMUNOGLOBULIN G;

EID: 0042819645     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20261     Document Type: Article
Times cited : (25)

References (35)
  • 1
  • 2
    • 0027254264 scopus 로고
    • Lymphomas in immunocompromised hosts
    • Berger F, Delecluse HJ. 1993. Lymphomas in immunocompromised hosts. Rev Prat 43:1661-1664.
    • (1993) Rev Prat , vol.43 , pp. 1661-1664
    • Berger, F.1    Delecluse, H.J.2
  • 3
    • 0035056807 scopus 로고    scopus 로고
    • The cytogenetic view of standard comparative genomic hybridization (CGH): Deletions of 20q in human leukemia as a measure of the sensitivity of the technique
    • Brecevic L, Verdorfer I, Saul W, Trautmann U, Gebhart E. 2001. The cytogenetic view of standard comparative genomic hybridization (CGH): Deletions of 20q in human leukemia as a measure of the sensitivity of the technique. Anticancer Res 21:89-92.
    • (2001) Anticancer Res , vol.21 , pp. 89-92
    • Brecevic, L.1    Verdorfer, I.2    Saul, W.3    Trautmann, U.4    Gebhart, E.5
  • 5
    • 0034640653 scopus 로고    scopus 로고
    • Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
    • Courtens W, Rassart A, Stene J-J, Vamos E. 2000. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 93:244-249.
    • (2000) Am J Med Genet , vol.93 , pp. 244-249
    • Courtens, W.1    Rassart, A.2    Stene, J.-J.3    Vamos, E.4
  • 8
    • 0034011324 scopus 로고    scopus 로고
    • Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients?
    • Donadio A, Garavelli L, Banchini G, Neri G. 2000. Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients? Am J Med Genet 91:164-165.
    • (2000) Am J Med Genet , vol.91 , pp. 164-165
    • Donadio, A.1    Garavelli, L.2    Banchini, G.3    Neri, G.4
  • 9
    • 0027942608 scopus 로고
    • Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4
    • Fryns JP, Van den Berghe H, Schrander-Stumpel C. 1994. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. Am J Med Genet 53(2):204-205.
    • (1994) Am J Med Genet , vol.53 , Issue.2 , pp. 204-205
    • Fryns, J.P.1    Van den Berghe, H.2    Schrander-Stumpel, C.3
  • 11
    • 0025185199 scopus 로고
    • The Niikawa-Kuroki (Kabuki-make-up) syndrome in a Moslem Arab child
    • Gillis R, Klar A, Gross-Kieselstein E. 1990. The Niikawa-Kuroki (Kabuki-make-up) syndrome in a Moslem Arab child. Clin Genet 38:348-381.
    • (1990) Clin Genet , vol.38 , pp. 348-381
    • Gillis, R.1    Klar, A.2    Gross-Kieselstein, E.3
  • 12
    • 0024450684 scopus 로고
    • Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome
    • Halal F, Gledhill R, Dudkiewicz A. 1989. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 33:376-381.
    • (1989) Am J Med Genet , vol.33 , pp. 376-381
    • Halal, F.1    Gledhill, R.2    Dudkiewicz, A.3
  • 13
    • 0034548138 scopus 로고    scopus 로고
    • L-asparaginase-provoked seizures as singular expression of central nervous toxicity
    • Hamdan MY, Frenkel EP, Bick R. 2000. L-asparaginase-provoked seizures as singular expression of central nervous toxicity. Clin Appl Thromb Hemost 6:234-238.
    • (2000) Clin Appl Thromb Hemost , vol.6 , pp. 234-238
    • Hamdan, M.Y.1    Frenkel, E.P.2    Bick, R.3
  • 15
    • 0028903780 scopus 로고
    • Kabuki make-up (Niikawa-Kuroki) syndromes in the Belarussian register of congenital malformations: Ten new observations
    • Ilyina H, Lurie I, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostjuk A. 1995. Kabuki make-up (Niikawa-Kuroki) syndromes in the Belarussian register of congenital malformations: Ten new observations. Am J Med Genet 56:127-131.
    • (1995) Am J Med Genet , vol.56 , pp. 127-131
    • Ilyina, H.1    Lurie, I.2    Naumtchik, I.3    Amoashy, D.4    Stephanenko, G.5    Fedotov, V.6    Kostjuk, A.7
  • 16
    • 0034754559 scopus 로고    scopus 로고
    • High resolution comparative genomic hybridisation in clinical cytogenetics
    • Kirchhoff M, Rose H, Lundsteen C. 2001. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 38:740-744.
    • (2001) J Med Genet , vol.38 , pp. 740-744
    • Kirchhoff, M.1    Rose, H.2    Lundsteen, C.3
  • 17
    • 0019837311 scopus 로고
    • A new malformation syndrome oflong palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies with postnatal dwarfism and mental retardation
    • Kuroki Y, Susuki Y, Chyo H, Hata A, Matsui I. 1981. A new malformation syndrome oflong palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies with postnatal dwarfism and mental retardation. J Pediatr 99:570-573.
    • (1981) J Pediatr , vol.99 , pp. 570-573
    • Kuroki, Y.1    Susuki, Y.2    Chyo, H.3    Hata, A.4    Matsui, I.5
  • 18
    • 0028039020 scopus 로고
    • Lymphoma complicating immunodeficiency disorders
    • Levine AM. 1994. Lymphoma complicating immunodeficiency disorders. Ann Oncol 5(Suppl 2):29-35.
    • (1994) Ann Oncol , vol.5 , Issue.SUPPL. 2 , pp. 29-35
    • Levine, A.M.1
  • 19
    • 0029858527 scopus 로고    scopus 로고
    • Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2
    • Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. 1996. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2. Am J Med Genet 65:101-103.
    • (1996) Am J Med Genet , vol.65 , pp. 101-103
    • Li, M.1    Zackai, E.H.2    Niikawa, N.3    Kaplan, P.4    Driscoll, D.A.5
  • 20
  • 21
    • 0032848882 scopus 로고    scopus 로고
    • Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude critical region at 1 q32-q41
    • Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N. 1999. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude critical region at 1 q32-q41. Am J Med Genet 86:285-288.
    • (1999) Am J Med Genet , vol.86 , pp. 285-288
    • Makita, Y.1    Yamada, K.2    Miyamoto, A.3    Okuno, A.4    Niikawa, N.5
  • 24
    • 0019850335 scopus 로고
    • Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
    • (1981) J Pediatr , vol.99 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3    Ohsawa, T.4    Kajii, T.5
  • 26
    • 0040920369 scopus 로고    scopus 로고
    • January 14, 2002
    • OMIM 147920. 2002. Online Mendelian Inheritance in Men. January 14, 2002. Available at: www.ncbi.nlm.nih.gov:80/Omim
    • (2002) Online Mendelian Inheritance in Men
  • 28
    • 0033154502 scopus 로고    scopus 로고
    • Niikawa-Kuroki syndrome
    • Rocella M. 1999. Niikawa-Kuroki syndrome. Minerva Pediatr 51:271-278.
    • (1999) Minerva Pediatr , vol.51 , pp. 271-278
    • Rocella, M.1
  • 29
    • 0030592939 scopus 로고    scopus 로고
    • Inheritance of Niikawa-Kuroki (Kabuki make-up) syndrome
    • Silengo M, Lerone M, Seri M, Romeo G. 1996. Inheritance of Niikawa-Kuroki (Kabuki make-up) syndrome. Am J Med Genet 66:368.
    • (1996) Am J Med Genet , vol.66 , pp. 368
    • Silengo, M.1    Lerone, M.2    Seri, M.3    Romeo, G.4
  • 30
    • 0035170275 scopus 로고    scopus 로고
    • Common variable immunodeficiency
    • Sneller MC. 2001. Common variable immunodeficiency. Am J Med Sci 321:42-48.
    • (2001) Am J Med Sci , vol.321 , pp. 42-48
    • Sneller, M.C.1
  • 33
    • 33646211359 scopus 로고    scopus 로고
    • The epidemiology of cancer
    • Voute PA, Kalifa C, Barett A, editors. New York: Oxford University Press
    • Voute PA, Kalifa C, Barett A. 1998. The epidemiology of cancer. In: Voute PA, Kalifa C, Barett A, editors. Cancer in children. New York: Oxford University Press. pp 1-20.
    • (1998) Cancer in Children , pp. 1-20
    • Voute, P.A.1    Kalifa, C.2    Barett, A.3
  • 34
    • 0028711803 scopus 로고
    • Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura
    • Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. 1994. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta Paediatr Jpn 36:727-729.
    • (1994) Acta Paediatr Jpn , vol.36 , pp. 727-729
    • Watanabe, T.1    Miyakawa, M.2    Satoh, M.3    Abe, T.4    Oda, Y.5
  • 35
    • 0031201983 scopus 로고    scopus 로고
    • Cancer and primary humoral immunodeficiency
    • Zenone T, Souillet G. 1997. Cancer and primary humoral immunodeficiency. Bull Cancer 84:813-821.
    • (1997) Bull Cancer , vol.84 , pp. 813-821
    • Zenone, T.1    Souillet, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.