Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
about
Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionDnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for DiseasesGermline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndromeCharacterization of How DNA Modifications Affect DNA Binding by C2H2 Zinc Finger Proteins.Sequence-specific microscopic visualization of DNA methylation status at satellite repeats in individual cell nuclei and chromosomes.Emerging concept in DNA methylation: role of transcription factors in shaping DNA methylation patterns.Genetic alterations of DNA methylation machinery in human diseases.Monogenic mutations associated with IgA deficiency.Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.
P2860
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P2860
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Three novel ZBTB24 mutations i ...... type 2 ICF syndrome patients.
@en
Three novel ZBTB24 mutations i ...... type 2 ICF syndrome patients.
@nl
type
label
Three novel ZBTB24 mutations i ...... type 2 ICF syndrome patients.
@en
Three novel ZBTB24 mutations i ...... type 2 ICF syndrome patients.
@nl
prefLabel
Three novel ZBTB24 mutations i ...... type 2 ICF syndrome patients.
@en
Three novel ZBTB24 mutations i ...... type 2 ICF syndrome patients.
@nl
P2093
P2860
P50
P356
P1476
Three novel ZBTB24 mutations i ...... type 2 ICF syndrome patients.
@en
P2093
Guillaume Velasco
Hirohisa Nitta
Hiroshi Takahashi
Hiroyuki Sasaki
Takeo Kubota
Tomoki Kosho
Tomonari Shigemura
P2860
P2888
P304
P356
10.1038/JHG.2013.56
P577
2013-06-06T00:00:00Z