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Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:小于0.01 秒
在所有数据库中总计命中:
8
条
1.
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene
作者:
Paolo Fontana
;
Rita Genesio
;
Alberto Casertano
;
Gerarda Cappuccio
;
Angela Mormile
;
Lucio Nitsch
;
Achille Iolascon
;
Generoso Andria
;
Daniela Melis
关键词:
TGF-尾
;
transforming growth factor-beta
;
CCR
;
complex chromosomal rearrangements
;
NAHR
;
non-allelic homologous recombination
;
NHEJ
;
non-homologous end joining
;
FoSTeS
;
fork stalling and template switching
;
MMBIR
;
micro-homology mediated break-induced replication
;
I.Q.
;
intelligence quotient
刊名:Gene
出版年:15 March, 2014
2.
De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay
作者:
Dar-Shong Lin
;
Tzu-Po Chuang
;
Ming-Fu Chiang
;
Che-Sheng Ho
;
Chung-Der Hsiao
;
Yu-Wen Huang
;
Tsu-Yen Wu
;
Jer-Yuarn Wu
;
Yuan-Tsong Chen
;
Tsai-Chuan Chen
;
Ling-Hui Li
关键词:
MECP2
;
methyl CpG binding protein 2
;
FISH
;
fluorescence in situ hybridization
;
SNP
;
single-nucleotide polymorphism
;
CGH
;
comparative genome hybridization
;
CNVs
;
copy number variations
;
FoSTeS
;
Fork Stalling and Template Switching
;
IFN-伪
;
interferon alpha
刊名:Gene
出版年:1 January, 2014
3.
Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations
作者:
Jian-Min Chen
a
;
b
;
c
;
d
;
jian-min.chen@univ-brest.fr
;
Claude Fé
;
rec
a
;
b
;
c
;
d
;
David N. Cooper
e
关键词:
CSMMs
;
closely spaced multiple mutations
;
FoSTeS
;
fork stalling and template switching
;
MMBIR
;
microhomology-mediated break-induced replication
;
NHEJ
;
non-homologous end joining
;
SRS
;
serial replication slippage
刊名:Mutation Research/Reviews in Mutation Research
出版年:2012
4.
The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer
作者:
Rita
;
Colnaghi
;
Gillian
;
Carpenter
;
Marcel
;
Volker
;
Mark
;
O&rsquo
;
Driscoll
;
;
;
m.o-driscoll@sussex.ac.uk
关键词:
Genomic Disorders
;
Copy number variation
;
Genomic stability
刊名:Seminars in Cell and Developmental Biology
出版年:2011
5.
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
作者:
Feng Zhang
;
Pavel Seeman
;
Pengfei Liu
;
Marian A.J. Weterman
;
Claudia Gonzaga-Jauregui
;
Charles F. Towne
;
Sat Dev Batish
;
Els De Vriendt
;
Peter De Jonghe
;
Bernd Rautenstrauss
;
Klaus-Henning Krause
;
Meh
刊名:The American Journal of Human Genetics
出版年:2010
6.
Complex human chromosomal and genomic rearrangements
作者:
Feng Zhang
;
Claudia M.B. Carvalho
;
James R. Lupski
刊名:Trends in Genetics
出版年:2009
7.
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1
作者:
Paweł
;
Stankiewicz
;
Partha Sen
;
Samarth S. Bhatt
;
Mekayla Storer
;
Zhilian Xia
;
Bassem A. Bejjani
;
Zhishuo Ou
;
Joanna Wiszniewska
;
Daniel J. Driscoll
;
Juan Bolivar
;
Mislen Bauer
;
Elaine H. Zackai
;
Donna McDonald-McGinn
;
Mał
;
gorzata M.J. Nowaczyk
;
Mitzi Murray
;
Tamim H. Shaikh
;
Vicki Martin
刊名:The American Journal of Human Genetics
出版年:2009
8.
A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders
作者:
Jennifer A. Lee
;
Claudia M.B. Carvalho
;
James R. Lupski
关键词:
HUMDISEASE
;
DNA
刊名:Cell
出版年:2007
1
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