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Volumn 63, Issue 3, 1998, Pages 803-809

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMMUNOGLOBULIN;

EID: 0032231449     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302021     Document Type: Article
Times cited : (49)

References (20)
  • 1
    • 0029026984 scopus 로고
    • ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): Investigation of heterochromatin abnormalities and review of clinical outcome
    • Brown DC, Grace E, Sumner AT, Edmunds AT, Ellis PM (1995) ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. Hum Genet 96: 411-416
    • (1995) Hum Genet , vol.96 , pp. 411-416
    • Brown, D.C.1    Grace, E.2    Sumner, A.T.3    Edmunds, A.T.4    Ellis, P.M.5
  • 3
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 4
    • 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
    • Franceschini P, Martino S, Ciocchini M, Ciuti E, Vardeu MP, Guala A, Signorile F, et al (1995) Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome: report of two new patients and review of the literature. Eur J Pediatr 154: 840-846
    • (1995) Eur J Pediatr , vol.154 , pp. 840-846
    • Franceschini, P.1    Martino, S.2    Ciocchini, M.3    Ciuti, E.4    Vardeu, M.P.5    Guala, A.6    Signorile, F.7
  • 5
    • 0000038810 scopus 로고
    • Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency: A new syndrome
    • Hultén M (1978) Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency: a new syndrome. Clin Genet 14:294
    • (1978) Clin Genet , vol.14 , pp. 294
    • Hultén, M.1
  • 7
    • 0028857541 scopus 로고
    • Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
    • Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56: 519-527
    • (1995) Am J Hum Genet , vol.56 , pp. 519-527
    • Kruglyak, L.1    Daly, M.J.2    Lander, E.S.3
  • 8
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 12
    • 17344368928 scopus 로고    scopus 로고
    • Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping
    • Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Faure S, et al (1997) Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. Am J Hum Genet 61:1335-1341
    • (1997) Am J Hum Genet , vol.61 , pp. 1335-1341
    • Neufeld, E.J.1    Mandel, H.2    Raz, T.3    Szargel, R.4    Yandava, C.N.5    Stagg, A.6    Faure, S.7
  • 13
    • 0028829566 scopus 로고
    • DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor
    • Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, et al (1995) DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor. Hum Genet 96:562-571
    • (1995) Hum Genet , vol.96 , pp. 562-571
    • Schuffenhauer, S.1    Bartsch, O.2    Stumm, M.3    Buchholz, T.4    Petropoulou, T.5    Kraft, S.6    Belohradsky, B.7
  • 17
    • 0018672228 scopus 로고
    • Multibranched chromosomes 1, 9 and 16 in a patient with combined Iga and IgE deficiency
    • Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C (1979) Multibranched chromosomes 1, 9 and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 51:127-137
    • (1979) Hum Genet , vol.51 , pp. 127-137
    • Tiepolo, L.1    Maraschio, P.2    Gimelli, G.3    Cuoco, C.4    Gargani, G.F.5    Romano, C.6
  • 18
    • 0020284631 scopus 로고
    • Pharmacological and biochemical aspects of S-adenosylhomocysteine and S-adenosylhomocysteine hydrolase
    • Ueland PM (1982) Pharmacological and biochemical aspects of S-adenosylhomocysteine and S-adenosylhomocysteine hydrolase. Pharmacol Rev 34:223-253
    • (1982) Pharmacol Rev , vol.34 , pp. 223-253
    • Ueland, P.M.1
  • 19
    • 0023137370 scopus 로고
    • Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency: Support of a new syndrome
    • Valkova G, Ghenev E, Tzancheva M (1987) Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency: support of a new syndrome. Clin Genet 31: 119-124
    • (1987) Clin Genet , vol.31 , pp. 119-124
    • Valkova, G.1    Ghenev, E.2    Tzancheva, M.3
  • 20
    • 0030922551 scopus 로고    scopus 로고
    • Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
    • Wang C-Y, Hawkins-Lee B, Ochoa B, Walker RD, She J-X (1997) Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. Am J Hum Genet 60: 1461-1467
    • (1997) Am J Hum Genet , vol.60 , pp. 1461-1467
    • Wang, C.-Y.1    Hawkins-Lee, B.2    Ochoa, B.3    Walker, R.D.4    She, J.-X.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.