Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
about
Mechanisms underlying structural variant formation in genomic disordersCHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.Absence of heterozygosity due to template switching during replicative rearrangements.Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher diseaseHuman subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial featuresInverted low-copy repeats and genome instability--a genome-wide analysisLoss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.Pelizaeus-Merzbacher disease as a chromosomal disorder.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Double, Double Toil and Trouble.Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.Accurate detection of complex structural variations using single-molecule sequencingDisclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas
P2860
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P2860
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Pelizaeus-Merzbacher disease c ...... nts including the PLP1 region.
@en
Pelizaeus-Merzbacher disease c ...... nts including the PLP1 region.
@nl
type
label
Pelizaeus-Merzbacher disease c ...... nts including the PLP1 region.
@en
Pelizaeus-Merzbacher disease c ...... nts including the PLP1 region.
@nl
prefLabel
Pelizaeus-Merzbacher disease c ...... nts including the PLP1 region.
@en
Pelizaeus-Merzbacher disease c ...... nts including the PLP1 region.
@nl
P2093
P1476
Pelizaeus-Merzbacher disease c ...... ents including the PLP1 region
@en
P2093
Keiko Shimojima
Midori Sugawara
Mitsuru Kashiwagi
Nobuhiko Okamoto
Takuya Tanabe
Toshiyuki Mano
Toshiyuki Yamamoto
P304
P356
10.1016/J.EJMG.2012.02.013
P50
P577
2012-03-21T00:00:00Z