Das ICF-Syndrom ist eine autosomal rezessive Immundeffizienz, die durch Mutationen im DNMT3B-Gen hervorgerufen wird.
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Jeanpierre M et al. (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. |
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Miniou P et al. (1997) alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues. |
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Sumner AT et al. (1998) A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. |
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Kondo T et al. (2000) Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. |
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Hansen RS et al. (2000) Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. |
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Wijmenga C et al. (1998) Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. |
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De Ravel TJ et al. (2001) The ICF syndrome: new case and update. |
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Tao Q et al. (2002) Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells. |
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Kubota T et al. (2004) ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. |
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Kloeckener-Gruissem B et al. (2005) A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. |
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Schuetz C et al. (2007) ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. |
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Weemaes CM et al. (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. |
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Thijssen PE et al. (2015) Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. |
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Stacey M et al. (1995) FISH analysis on spontaneously arising micronuclei in the ICF syndrome. |
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Okano M et al. (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. |
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Xu GL et al. (1999) Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. |
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Wijmenga C et al. (2000) Genetic variation in ICF syndrome: evidence for genetic heterogeneity. |
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Ehrlich M et al. (2001) DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. |
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Bickmore WA et al. (2003) Perturbations of chromatin structure in human genetic disease: recent advances. |
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Jiang YL et al. (2005) DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. |
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Tiepolo L et al. (1979) Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. |
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Maraschio P et al. (1992) Interphase cytogenetics of the ICF syndrome. |
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Braegger C et al. (1991) Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. |
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None (1990) Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon? |
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Fasth A et al. () Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity? |
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Turleau C et al. (1989) Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. |
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Maraschio P et al. (1989) Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts. |
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Maraschio P et al. (1988) Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. |
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Valkova G et al. (1987) Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome. |
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Howard PJ et al. (1985) Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome. |
38. |
Fryns JP et al. (1981) Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency. |
39. |
Brown DC et al. (1995) ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. |
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Sawyer JR et al. (1995) Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization. |
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Orphanet article Orphanet ID 2268 |
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OMIM.ORG article Omim 242860 |