Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
about
Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.Duplication 9p and their implication to phenotype.Heteromorphic variants of chromosome 9Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challengeThe variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.
P2860
Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
description
2006 nî lūn-bûn
@nan
2006年の論文
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2006年論文
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2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
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2006年论文
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name
Novel deletion variants of 9q1 ...... d pericentromeric euchromatin.
@en
type
label
Novel deletion variants of 9q1 ...... d pericentromeric euchromatin.
@en
prefLabel
Novel deletion variants of 9q1 ...... d pericentromeric euchromatin.
@en
P2093
P2860
P356
P1476
Novel deletion variants of 9q1 ...... d pericentromeric euchromatin.
@en
P2093
Amanda Clarkson
Caroline Mackie Ogilvie
F Lucy Raymond
Ingrid Simonic
John C K Barber
Lionel R Willatt
Zoe Docherty
P2860
P2888
P356
10.1038/SJ.EJHG.5201720
P577
2006-09-20T00:00:00Z
P5875
P6179
1003950202