Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
about
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndromeSmall RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export.Recent Advances in Imprinting Disorders.Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.Uniparental disomy and prenatal phenotype: Two case reports and review.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.Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.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.New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
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P2860
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region
description
2016 nî lūn-bûn
@nan
2016 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@ast
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@en
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@nl
type
label
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@ast
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@en
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@nl
prefLabel
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@ast
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@en
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@nl
P2860
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P1476
Kagami-Ogata syndrome: a clini ...... osome 14q32.2 imprinted region
@en
P2093
Masayo Kagami
Tsutomu Ogata
P2860
P2888
P356
10.1038/JHG.2015.113
P407
P5008
P577
2015-09-17T00:00:00Z
P5875
P6179
1025945461