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Abbreviation : ICF
Long Form : immunodeficiency, centromeric instability, and facial anomalies
No. Year Title Co-occurring Abbreviation
2019 CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome. C-NHEJ
2019 Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. ---
2019 Structural basis of specific DNA binding by the transcription factor ZBTB24. ZFs
2019 The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome. ---
2019 [Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review]. ---
2018 Clinical and Immunological Characterization of ICF Syndrome in Japan. ---
2018 HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome. ---
2018 Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome. DNMT3B
2018 Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features. ---
10  2018 ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation. DNMTs
11  2017 Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2. ---
12  2017 Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome. HSCT, PJ
13  2017 Lsh/HELLS regulates self-renewal/proliferation of neural stem/progenitor cells. NSPCs
14  2017 Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I. LCLs
15  2016 A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF). IVIG
16  2016 Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. DNMT3B, FSHD
17  2015 Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome. DMPs
18  2015 Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. ---
19  2014 Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). ICF2
20  2014 De novo DNMTs and DNA methylation: novel insights into disease pathogenesis and therapy from epigenomics. ---
21  2014 Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. ---
22  2014 Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome. DNMT3B, FLS, iPSCs
23  2013 Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. ---
24  2013 Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor. ---
25  2013 The role of genetics in the establishment and maintenance of the epigenome. DNMT3B, GNMT, SAH, SAM
26  2013 Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. ---
27  2012 A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. ICF2
28  2012 Role of DNMT3B in the regulation of early neural and neural crest specifiers. hESCs
29  2012 TERRA promotes telomere shortening through exonuclease 1-mediated resection of chromosome ends. TERRA
30  2012 Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. ---
31  2011 An introduction to epigenetics. ---
32  2011 Analysis of human syndromes with disordered chromatin reveals the impact of heterochromatin on the efficacy of ATM-dependent G2/M checkpoint arrest. DSB, HC
33  2011 Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome. ---
34  2011 ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis. ---
35  2011 ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation. DNMT, SAM
36  2011 Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. BTB, DNMT3B
37  2009 Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome. ---
38  2008 DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1. DNMT3B, SUMO
39  2008 ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. ---
40  2007 Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. FSHD
41  2006 Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications. PAR2
42  2006 Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L. ---
43  2006 PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. PML-NB
44  2005 A case with ICF syndrome lost to rubella pneumonitis. ---
45  2005 Subcellular distribution of HP1 proteins is altered in ICF syndrome. NBs
46  2004 Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. DNMT3B, IgE, PB
47  2004 Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery. HDAC1
48  2003 Syndromes of disordered chromatin remodeling. ATR-X, CLS, RS, RSTS
49  2003 The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease. ---
50  2002 A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies. ---
51  2002 Genetic analyses of DNA methyltransferase genes in mouse model system. ES
52  2002 Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B. ---
53  2001 [Immunodeficiency with centromeric instability, immunodeficiency-centromeric instability-facial anomalies (ICF)]. ---
54  2000 Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome. ---
55  1997 alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues. ---
56  1997 Rapid assay of intrinsic radiosensitivity based on apoptosis in human CD4 and CD8 T-lymphocytes. AT
57  1995 Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature. ---