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Volumn 21, Issue 1, 2001, Pages 91-111

Syndromic immunodeficiencies with humoral defects

Author keywords

[No Author keywords available]

Indexed keywords

TOXIN;

EID: 0035191122     PISSN: 08898561     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8561(05)70194-6     Document Type: Article
Times cited : (2)

References (126)
  • 1
    • 0031627321 scopus 로고    scopus 로고
    • A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency
    • (1998) Hum Mutat , vol.11 , pp. 336
    • Abo, K.1    Nishio, H.2    Lee, M.J.3
  • 5
    • 0022570280 scopus 로고
    • Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia
    • (1986) Hum Genet , vol.72 , pp. 210
    • Aurias, A.1    Dutrillaux, B.2
  • 16
    • 0032076248 scopus 로고    scopus 로고
    • The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
    • (1998) Cell , vol.93 , pp. 477
    • Carney, J.P.1    Maser, R.S.2    Olivares, H.3
  • 32
    • 0000169321 scopus 로고    scopus 로고
    • The genetic basic of conotruncal cardiac defects: The chromosome 22q11.2 deletion
    • Harvey RP, Rosenthal N (eds): Heart Development. New York, Academic Press
    • (1999) , pp. 463
    • Emanuel, B.S.1    Budarf, M.L.2    Scambler, P.J.3
  • 35
    • 0029133507 scopus 로고
    • Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome: Report of two new patients and review of the literature
    • (1995) Eur J Pediatr , vol.154 , pp. 840
    • Franceschini, P.1    Martino, S.2    Ciocchini, M.3
  • 39
    • 0032937408 scopus 로고    scopus 로고
    • Folate deficiency beyond megaloblastic anemia: Hyperhomocys teinemia and other manifestations of dysfunctional folate status
    • (1999) Semin Hematol , vol.36 , pp. 47
    • Greens, R.1    Miller, J.W.2
  • 79
    • 0033615717 scopus 로고    scopus 로고
    • DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
    • (1999) Cell , vol.99 , pp. 247
    • Okano, M.1    Bell, D.W.2    Haber, D.A.3
  • 80
    • 85031536543 scopus 로고    scopus 로고
    • Center for Medical Genetics Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda, MD)
    • (2000)
  • 82
    • 0033563229 scopus 로고    scopus 로고
    • Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex
    • (1999) Genes Dev , vol.13 , pp. 1276
    • Paull, T.T.1    Gellert, M.2
  • 91
    • 0025268280 scopus 로고
    • Seemanova E: An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
    • (1990) Mutat Res , vol.238 , pp. 321
  • 92
    • 0031022790 scopus 로고    scopus 로고
    • Conversion of selective IgA deficiency to common variable immunodeficiency in an adolescent female with 18q deletion syndrome
    • (1997) Eur J Pediatr , vol.156 , pp. 155
    • Slyper, A.H.1    Pietryga, D.2
  • 103
    • 0030006284 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
    • (1996) Cell , vol.84 , pp. 723
    • Symons, M.1    Derry, J.M.2    Karlak, B.3
  • 116
    • 0033362101 scopus 로고    scopus 로고
    • Mutations of UFDIL are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11
    • (1999) Am J Hum Genet , vol.65 , pp. 247
    • Wadey, R.1    McKie, J.2    Papapetrou, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.