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SpringerLink电子期刊(3)
Elsevier电子期刊(10)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:小于0.01 秒
在所有数据库中总计命中:
13
条
1.
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com
;
Shuan-Pei Lin
b
;
g
;
h
;
i
;
Yi-Hui Lin
j
;
Schu-Rern Chern
b
;
Peih-Shan Wu
k
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chien-Wen Yang
b
;
Wen-Lin Chen
a
;
Wayseen Wang
b
;
l
关键词:
CHD7
;
chromosome
8q12
duplication
syndrome
;
mosaicism
;
ring chromosome 8
;
small supernumerary marker chromosome 8
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
2.
Duplication
of
8q12
encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
作者:
Hong Luo
;
Li Xie
;
Shou-Zheng Wang
;
Jin-Lan Chen
;
Can Huang
;
Jian Wang
;
Jin-Fu Yang
;
Wei-Zhi Zhang
;
Yi-Feng Yang
;
Zhi-Ping Tan
关键词:
CHD7
;
Duplication
8q12
;
SNP array
;
Dosage sensitive gene
;
Copy number variation
;
CNV
;
Congenital heart defect
刊名:European Journal of Medical Genetics
出版年:2012
3.
Genotype-phenotype analysis of 1
8q12
.1-
q12
.2 copy number variation in autism
作者:
Peter Wang
;
Prescilla Carrion
;
Ying Qiao
;
Christine Tyson
;
Monica Hrynchak
;
Kristina Calli
;
Elena Lopez-Rangel
;
Joris Andrieux
;
Bruno Delobel
;
B¨¦n¨¦dicte Duban-Bedu
;
Ann-Charlotte Thuresson
;
G?ran Anner¨¦n
;
Xudong Liu
;
Evica Rajcan-Separovic
;
M.E. Suzanne Lewis
关键词:
Autism spectrum disorder (ASD)
;
Epilepsy
;
Intellectual disability (ID)
;
Chromosomal microarray analysis (CMA)
;
Copy number variants (CNVs)
刊名:European Journal of Medical Genetics
出版年:2013
4.
8q12
.1
q12
.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature
作者:
Orazio Palumbo
a
;
Pietro Palumbo
a
;
b
;
Raffaella Stallone
a
;
Teresa Palladino
a
;
Leopoldo Zelante
a
;
Massimo Carella
a
;
m.carella@operapadrepio.it
关键词:
CHD7
;
chromodomain helicase DNA binding protein 7
;
CHARGE
;
ocular coloboma
;
heart disease
;
choanal atresia
;
retarded growth and/or anomalies of the central nervous system
;
genito-urinary defects and/or hypogonadism
;
and ear anomalies and/or deafness
;
N-SM
刊名:Gene
出版年:2013
5.
Terminal 4q deletion and
8q
duplication
in a patient with CHARGE-like features
作者:
Ola A. Khalifa
a
;
olagen1@gmail.com
;
Claudia U. Walter
b
;
Z.A. Rahbeeni
a
;
A. Verloes
c
关键词:
Array CGH
;
CHARGE syndrome
;
Deletion 4q34.3
;
→
;
;
qter
;
Duplication
8q
22.1
;
→
;
;
qter
;
Unbalanced translocation
刊名:European Journal of Medical Genetics
出版年:2011
6.
Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1
q12
.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 1
8q
in a fetus with holoprosencephaly
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com"" rel=""nofollow
;
Yau-Kun Kuo
g
;
Yi-Ning Su
h
;
Schu-Rern Chern
b
;
Fuu-Jen Tsai
d
;
i
;
j
;
Pei-Chen Wu
a
;
Yu-Ting Chen
b
;
Dai-Dyi Town
a
;
Wayseen Wang
b
;
k
关键词:
1
8q
deletion
;
der(18
;
18)(q10
;
q10)
;
Holoprosencephaly
;
Isochromosome 1
8q
;
Monosomy 18p
;
Prenatal diagnosis
;
Trisomy 1
8q
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2011
7.
Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia
作者:
Hsiao-Mei Liao
;
Yu-Lin Chao
;
Ai-Ling Huang
;
Min-Chih Cheng
;
Yann-Jang Chen
;
Kuei-Fang Lee
;
Jye-Siung Fang
;
Chih-Hao Hsu
;
Chia-Hsiang Chen
关键词:
Schizophrenia
;
Copy number variation
;
Genetics
;
Deletion
;
Duplication
;
Rearrangement
刊名:Schizophrenia Research
出版年:2012
8.
A characteristic syndrome associated with micro
duplication
of
8q12
, inclusive of CHD7
作者:
Anna M. Lehman
;
Jan M. Friedman
;
David Chai
;
Farah R. Zahir
;
Marco A. Marra
;
Larraine Prisman
;
Erica Tsang
;
Patrice Eydoux
;
Linlea Armstrong
关键词:
Duane retraction syndrome
;
Congenital abnormalities
;
CHD7 protein
;
Human
;
Cochlear disease
;
Chromosome disorder
;
Oligonucleotide microarray
刊名:European Journal of Medical Genetics
出版年:2009
9.
Molecular characterization of a new urea transporter in the human kidney
作者:
Olivè
s ;
Bernadette
;
Martial
;
Sonia
;
Mattei
;
Marie-Geneviè
;
ve
;
Matassi
;
Giorgio
;
et. al.
关键词:
Urea transport
;
Human kidney
;
Tissue expression
;
Transcription-translation assay
;
In situ hybridization
刊名:FEBS Letters
出版年:1996
10.
A YAC Contig Joining the Desmocollin and Desmoglein Loci on Human Chromosome 18 and Ordering of the Desmocollin Genes
作者:
Cowley
;
Catherine M. E.
;
Simrak
;
Danijela
;
Marsden
;
Mark D.
;
King
;
Ian A.
;
Arnemann
;
Joachim
;
et. al.
刊名:Genomics
出版年:1997
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