Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)
about
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted regionImprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociProfound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locusMammalian-specific genomic functions: Newly acquired traits generated by genomic imprinting and LTR retrotransposon-derived genes in mammalsSevere damage to the placental fetal capillary network causes mid- to late fetal lethality and reduction in placental size in Peg11/Rtl1 KO mice.Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions.YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.DLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer.Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex.
P2860
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P2860
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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name
Comprehensive clinical studies ...... itions (Kagami-Ogata syndrome)
@ast
Comprehensive clinical studies ...... itions (Kagami-Ogata syndrome)
@en
type
label
Comprehensive clinical studies ...... itions (Kagami-Ogata syndrome)
@ast
Comprehensive clinical studies ...... itions (Kagami-Ogata syndrome)
@en
prefLabel
Comprehensive clinical studies ...... itions (Kagami-Ogata syndrome)
@ast
Comprehensive clinical studies ...... itions (Kagami-Ogata syndrome)
@en
P2093
P2860
P356
P1476
Comprehensive clinical studies ...... itions (Kagami-Ogata syndrome)
@en
P2093
Fumitoshi Ishino
Kenji Kurosawa
Kentaro Matsuoka
Osamu Miyazaki
P2860
P2888
P304
P356
10.1038/EJHG.2015.13
P577
2015-02-18T00:00:00Z