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Wiley电子期刊(3)
SpringerLink电子期刊(53)
ProQuest学位论文(1)
Elsevier电子期刊(137)
在“
Elsevier电子期刊
”中,
命中:
137
条,耗时:小于0.01 秒
在所有数据库中总计命中:
194
条
1.
A case
of
Philadelphia
chromosome
positive acute lymphoblastic leukemia with partial
trisomy
of
chromosome
1q
involving
chromosome
13 as the acceptor—A novel cytogenetic finding
作者:
Mohit Bharadwaj
;
MS
a
;
Anurag Sharma
;
MD
a
;
Rahul Katara
;
PhD
a
;
Dinesh Pradhan
;
MD
b
;
drdineshpradhan@gmail.com
;
Raman Arora
;
MD
a
;
Reena Mittal
;
MD
a
;
Sambit K. Mohanty
;
MD
a
关键词:
Philadelphia
chromosome
;
Acute lymphoblastic leukemia
;
Jumping translocation
;
Trisomy
of
chromosome
1q
刊名:Pathology - Research and Practice
出版年:2017
2.
A rare occurrence
of
two large de novo duplications on
1q
42-q44 and 9q21.12-q21.33
作者:
Jin Wang
a
;
Chunyun Fu
a
;
Shujie Zhang
a
;
Jingsi Luo
a
;
Luping Ouyang
a
;
Bobo Xie
a
;
Weijia Sun
a
;
Sheng He
a
;
Jiasun Su
a
;
Xuyun Hu
a
;
Dongmei Fei
a
;
Rongyu Chen
a
;
Xin Fan
a
;
Shan Ou
a
;
Shaoke Chen
a
;
chenshaoke123@163.com" class="auth_mail" title="E-mail the corresponding author
;
Yiping Shen
a
;
b
;
c
;
Yiping.Shen@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
CMA
;
chromosome
microarray analysis
;
SD
;
standard deviation
;
SNP
;
single nucleotide polymorphisms
;
βHCG
;
β-human chorionic gonadotrophin
;
PAPPA
;
pregnancy-associated plasma protein-A
;
NT
;
nuchal translucency
;
IUGR
;
intrauterine growth retardation
;
IVH
;
intraventricular hemorrhage
刊名:Gene
出版年:2016
3.
Prenatal diagnosis and molecular cytogenetic characterization
of
de novo partial monosomy 3p (3p26.3→pter) and partial
trisomy
16q (16q23.1→qter)
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Fung-Yu Hung
g
;
Schu-Rern Chern
b
;
Peih-Shan Wu
h
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chen-Chi Lee
a
;
Wayseen Wang
b
;
i
关键词:
array comparative genomic hybridization
;
3p deletion
;
16q duplication
;
prenatal diagnosis
;
quantitative fluorescent polymerase chain reaction
刊名:Taiwanese Journal
of
Obstetrics and Gynecology
出版年:2016
4.
Biomarkers in chronic lymphocytic leukemia: Clinical applications and prognostic markers
作者:
Carlos I. Amaya-Chanaga
;
camayachanaga@ucsd.edu" class="auth_mail" title="E-mail the corresponding author
;
Laura Z. Rassenti
关键词:
CLL
;
Prognostic markers
;
Prognostic index
;
Chromosomal abnormalities
;
Genetic mutations
刊名:Best Practice Research Clinical Haematology
出版年:2016
5.
A rare de novo duplication
of
chromosome
2
1q
22.12→q22.3 associated with Down syndrome - A case report
作者:
R.N. Makroo
a
;
makroo@apollohospitals.com" class="auth_mail" title="E-mail the corresponding author
;
M. Chowdhry
b
;
M. Kumar
c
;
D. Rani
d
;
Y. Thakur
e
;
M. Singh
e
关键词:
Down syndrome
;
Classical
trisomy
;
Mosaicism
刊名:Apollo Medicine
出版年:2015
6.
Monosomy 3pter-p25.3 and
Trisomy
1q
42.13-qter in a Boy With Pr
of
ound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death
作者:
Chumei Li
a
;
lichum@mcmaster.ca
;
Vikas Mahajan
b
;
Jia-Chi Wang
c
;
Bosco Paes
b
关键词:
chromosome
microarray
;
derivative
chromosome
;
monosomy 3p25
;
multiple congenital anomalies
;
trisomy
1q
42
刊名:Pediatrics Neonatology
出版年:2013
7.
A patient with partial
trisomy
21 and 7q deletion expresses mild Down syndrome phenotype
作者:
I. Papoulidis
;
E. Papageorgiou
;
E. Siomou
;
E. Oikonomidou
;
L. Thomaidis
;
A. Vetro
;
O. Zuffardi
;
T. Liehr
;
E. Manolakos
;
Papadopoulos Vassilis
关键词:
DYRK1
;
dual-specifity tyrosine phosphorylation-regulated kinase 1
;
DYRK1A
;
dual-specifity tyrosine phosphorylation-regulated kinase 1A
;
MX1
;
myxovirus resistance 1
;
mouse
;
homolog
of
;
DSCR1
;
Down syndrome critical region gene 1
;
APP
;
amyloid beta (A4) precursor protein
;
UBE3C
;
ubiquitin protein ligase E3C
;
DNAJB6
;
DnaJ/HSP40 homolog subfamily B member 6
;
PTPRN2
;
tyrosine-protein phosphatase non-receptor type 2
;
NCAPG2
;
condensin-2 complex subunit G2
;
VIPR2
;
vasoactive intestinal peptide receptor
刊名:Gene
出版年:25 February, 2014
8.
Prenatal diagnosis and molecular cytogenetic characterization
of
a de novo interstitial duplication
of
1
1q
(1
1q
22.3¡úq23.3) associated with abnormal maternal serum biochemistry
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
g
;
cpc_mmh@yahoo.com
;
Yi-Ning Su
h
;
Shuan-Pei Lin
b
;
c
;
i
;
j
;
Schu-Rern Chern
b
;
Jun-Wei Su
a
;
k
;
Yu-Ting Chen
b
;
Meng-Shan Lee
a
;
Wayseen Wang
b
;
l
关键词:
1
1q
22.3&rarr
;
q23.3
;
duplication 1
1q
;
interstitial duplication
;
maternal serum biochemistry
;
prenatal diagnosis
刊名:Taiwanese Journal
of
Obstetrics and Gynecology
出版年:2013
9.
Clinical delineation
of
a patient with
trisomy
12q23q24
作者:
Arjan Bouman
;
Anke Schuitema
;
Rolph Pfundt
;
Guillaume van de Z
e ;
Tjitske Kleefstra
关键词:
Chromosome
12
;
Trisomy
12q23q24
;
Micro-array analysis
;
SNP-array
;
Growth retardation
;
Mental retardation
刊名:European Journal
of
Medical Genetics
出版年:2013
10.
Molecular karyotyping
of
an isolated partial
trisomy
1
1q
patient with additional findings
作者:
Gü
;
lsü
;
m Kayhan
a
;
1
;
gulsum-kayhan@hotmail.com
;
Bü
;
sranur Cavdarli
a
;
1
;
Meral Yirmibes Karaoguz
a
;
E. Ferda Percin
a
;
Aysegü
;
l Oztü
;
rk Kaymak
a
;
Aydan Biri
b
;
M. Ali Ergun
a
关键词:
arr
;
array
;
dn
;
de novo
;
FISH
;
fluorescent in situ hybridization
;
GTG
;
Giemsa trypsin banding
;
hg
;
human genome
;
Mb
;
mega base
;
SNP
;
single nucleotide polymorphism
刊名:Gene
出版年:2013
1
2
3
4
5
6
7
8
9
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