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Wiley电子期刊(1)
SpringerLink电子期刊(52)
Elsevier电子期刊(37)
Springer电子图书(11)
NATURE电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
37
条,耗时:0.0759623 秒
在所有数据库中总计命中:
102
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
8
q12 duplication syndrome
;
mosaicism
;
ring
chromosome
8
;
small
supernumerary
marker
chromosome
8
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
2.
Molecular cytogenetic characterization of mosaicism for a
small
supernumerary
marker
chromosome
derived from
chromosome
8
or r(
8
)(::p11.22→q11.21::) in an 1
8
-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com
;
Shuan-Pei Lin
b
;
g
;
h
;
i
;
Schu-Rern Chern
b
;
Peih-Shan Wu
j
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chien-Wen Yang
b
;
Meng-Shan Lee
a
;
Wayseen Wang
b
;
k
关键词:
attention deficit hyperactivity disorder
;
intellectual disability
;
obesity
;
ring
chromosome
8
;
small
supernumerary
marker
chromosome
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
3.
Molecular cytogenetic characterization of an inv dup(15)
chromosome
presenting as a
small
supernumerary
marker
chromosome
associated with the inv dup(15) syndrome
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Shuan-Pei Lin
b
;
g
;
h
;
i
;
Schu-Rern Chern
b
;
Peih-Shan Wu
j
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chen-Chi Lee
a
;
Dai-Dyi Town
a
;
Chien-Wen Yang
b
;
Wayseen Wang
b
;
k
关键词:
inverted duplication of proximal
chromosome
15 syndrome
;
isodicentric
chromosome
15 syndrome
;
small
supernumerary
marker
chromosome
15
;
tetrasomy 15q
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
4.
Prenatal diagnosis of mosaic
small
supernumerary
marker
chromosome
17 associated with ventricular septal defect, developmental delay, and speech delay
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Sheng Chiang
g
;
h
;
Kung-Liahng Wang
g
;
h
;
i
;
Fu-Nan Cho
j
;
Ming Chen
k
;
l
;
m
;
Schu-Rern Chern
b
;
Peih-Shan Wu
n
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Shun-Ping Chang
k
;
l
;
Weu-Lin Chen
a
;
Wayseen Wang
b
;
o
关键词:
amniocentesis
;
duplication of 17q11.1-q11.2
;
small
supernumerary
marker
chromosome
17
;
sSMC17
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
5.
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a
small
supernumerary
marker
chromosome
derived from
chromosome
22 associated with cat eye syndrome
作者:
Chih-Ping Chen
;
Tsang-Ming Ko
;
Yi-Yung Chen
;
Jun-Wei Su
;
Wayseen Wang
关键词:
sSMC
;
small
supernumerary
marker
chromosome
;
CES
;
cat eye syndrome
;
inv dup
;
inverted duplication
;
mar
;
marker
chromosome
;
LCR
;
low-copy repeats
;
DGS
;
DiGeorge syndrome
;
aCGH
;
array comparative genomic hybridization
;
IUGR
;
intrauterine growth restriction
刊名:Gene
出版年:2013
6.
Mosaic
small
supernumerary
marker
chromosome
1 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review
作者:
Chih-Ping Chen
;
Ming Chen
;
Yi-Ning Su
;
Jian-Pei Huang
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Shun-Ping Chang
;
Yu-Ting Chen
;
Chen-Chi Lee
;
Li-Feng Chen
;
Chen-Wen Pan
;
Wayseen Wang
关键词:
OMIM
;
Online Mendelian Inheritance in Man
;
sSMC
;
small
supernumerary
marker
chromosome
;
aCGH
;
array comparative genomic hybridization
;
FISH
;
fluorescence in situ hybridization
;
del
;
deletion
;
der
;
derivative
chromosome
;
r
;
ring
chromosome
;
mar
;
marker
chr
刊名:Gene
出版年:2013
7.
A new
small
supernumerary
marker
chromosome
involving 14pter ¡ú q12 in a child with severe neurodevelopmental retardation: Case report and literature review
作者:
Manlong Qi
;
Yanyan Zhao
;
Yueping Wang
;
Tingting Li
关键词:
sSMC
;
small
supernumerary
marker
chromosome
;
MRI
;
magnetic resonance imaging
;
CNV
;
copy number variation
;
FISH
;
fluorescent in situ hybridization
;
FOXG1
;
forkhead box G1
;
NOVA1
;
neuro-oncological ventral antigen 1
;
G2E3
;
G2/M-phase specific E3 ubiquitin p
刊名:Gene
出版年:2013
8.
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a
small
supernumerary
marker
chromosome
derived from ring
chromosome
2
作者:
Chih-Ping Chen
;
Ming Chen
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Shun-Ping Chang
;
Dong-Jay Lee
;
Yu-Ting Chen
;
Li-Feng Chen
;
Jun-Wei Su
;
Alan Hwa-Ruey Hsieh
;
Alex Hwa-Jiun Hsieh
;
Wayseen Wang
关键词:
duplication of 2q11.2&rarr
;
q21.2
;
prenatal diagnosis
;
ring
chromosome
2
;
small
supernumerary
marker
chromosome
2
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2012
9.
Rapid positive confirmation of mosaicism for a
small
supernumerary
marker
chromosome
as r(
8
) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured am
作者:
Chih-Ping Chen
;
Shuenn-Dyh Chang
;
Yi-Ning Su
;
Ming Chen
;
Schu-Rern Chern
;
Jun-Wei Su
;
Yu-Ting Chen
;
Wen-Lin Chen
;
Chen-Wen Pan
;
Meng-Shan Lee
;
Wayseen Wang
关键词:
array comparative genomic hybridization
;
interphase fluorescence in situ hybridization
;
prenatal diagnosis
;
quantitative fluorescent polymerase chain reaction
;
small
supernumerary
marker
chromosome
;
supernumerary
ring
chromosome
8
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2012
10.
Small
supernumerary
marker
chromosome
s derived from
chromosome
s 6 and 20 in a woman with recurrent spontaneous abortions
作者:
Narjes Guediche
a
;
b
;
narjes.guediche@yahoo.fr
;
Lucie Tosca
a
;
b
;
Marc Nouchy
a
;
c
;
Laure Lecerf
d
;
Dominique Cornet
e
;
Sophie Brisset
a
;
Michel Goossens
d
;
Gé
;
rard Tachdjian
a
;
b
关键词:
Small
supernumerary
marker
chromosome
s (sSMC)
;
Array CGH
;
FISH
;
Recurrent abortions
刊名:European Journal of Medical Genetics
出版年:2012
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