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Volumn 123, Issue 4, 2009, Pages 966-969

Novel presentation of Omenn syndrome in association with aniridia

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 63449094929     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2008.12.007     Document Type: Letter
Times cited : (11)

References (9)
  • 2
    • 0027715021 scopus 로고
    • Mutations in the PAX6 gene in patients with hereditary aniridia
    • Davis A., and Cowell J.K. Mutations in the PAX6 gene in patients with hereditary aniridia. Hum Mol Genet 2 (1993) 2093-2097
    • (1993) Hum Mol Genet , vol.2 , pp. 2093-2097
    • Davis, A.1    Cowell, J.K.2
  • 4
    • 0035161258 scopus 로고    scopus 로고
    • V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
    • Villa A., Sobacchi C., Notarangelo L.D., Bozzi F., Abinun M., Abrahamsen T.G., et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 97 (2001) 81-88
    • (2001) Blood , vol.97 , pp. 81-88
    • Villa, A.1    Sobacchi, C.2    Notarangelo, L.D.3    Bozzi, F.4    Abinun, M.5    Abrahamsen, T.G.6
  • 5
    • 34447333899 scopus 로고    scopus 로고
    • GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes
    • Haq I.J., Steinberg L.J., Hoenig M., van der Burg M., Villa A., Cant A.J., et al. GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. Clin Immunol 124 (2007) 165-169
    • (2007) Clin Immunol , vol.124 , pp. 165-169
    • Haq, I.J.1    Steinberg, L.J.2    Hoenig, M.3    van der Burg, M.4    Villa, A.5    Cant, A.J.6
  • 6
    • 0036844718 scopus 로고    scopus 로고
    • Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
    • Crolla J.A., and van Heyningen V. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet 71 (2002) 1138-1149
    • (2002) Am J Hum Genet , vol.71 , pp. 1138-1149
    • Crolla, J.A.1    van Heyningen, V.2
  • 8
    • 0035917489 scopus 로고    scopus 로고
    • Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
    • Moshous D., Callebaut I., de Chasseval R., Corneo B., Cavazzana-Calvo M., Le Deist F., et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105 (2001) 177-186
    • (2001) Cell , vol.105 , pp. 177-186
    • Moshous, D.1    Callebaut, I.2    de Chasseval, R.3    Corneo, B.4    Cavazzana-Calvo, M.5    Le Deist, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.