Genetic variation in ICF syndrome: evidence for genetic heterogeneity
about
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPasesThe molecular pathology of primary immunodeficienciesLack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germlineDnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for DiseasesRecognition of the F&H; motif by the Lowe syndrome protein OCRLDNA methylation, its mediators and genome integrityEndocrine-disrupting Chemicals: Review of Toxicological Mechanisms Using Molecular Pathway AnalysisThe PWWP domain of Dnmt3a and Dnmt3b is required for directing DNA methylation to the major satellite repeats at pericentric heterochromatinMolecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferasesA Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.Epigenetic modifications by dietary phytochemicals: implications for personalized nutritionThree novel DNMT3B mutations in Japanese patients with ICF syndrome.Cancer genetics and epigenetics: two sides of the same coin?The role of genetics in the establishment and maintenance of the epigenome.Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.Perturbations of chromatin structure in human genetic disease: recent advances.Chromosome territory reorganization in a human disease with altered DNA methylationWhole-genome bisulfite DNA sequencing of a DNMT3B mutant patientG23D: Online tool for mapping and visualization of genomic variants on 3D protein structures.Gametes and embryo epigenetic reprogramming affect developmental outcome: implication for assisted reproductive technologies.Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulationThe SNF2 family ATPase LSH promotes cell-autonomous de novo DNA methylation in somatic cells.Epigenetic Determinants of Cancer.Monogenic mutations associated with IgA deficiency.A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.The DNA methyltransferase family: a versatile toolkit for epigenetic regulation.Subcellular distribution of HP1 proteins is altered in ICF syndrome.Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q
P2860
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P2860
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
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2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@ast
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@en
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@en-gb
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@nl
type
label
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@ast
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@en
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@en-gb
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@nl
prefLabel
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@ast
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@en
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@en-gb
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@nl
P2093
P3181
P356
P1433
P1476
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
@en
P2093
B H Belohradsky
C Wijmenga
D F Smeets
D Valentine
E G Davies
E J Björck
E Strengman
J A Luyten
P304
P3181
P356
10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V
10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.3.CO;2-M
P407
P577
2000-12-01T00:00:00Z