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SpringerLink电子期刊(4)
Elsevier电子期刊(10)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:0.0129605 秒
在所有数据库中总计命中:
14
条
1.
Post-mortem cytogenomic investigations in patients with congenital malformations
作者:
Alexan
d
re Torchio Dias
a
;
alexan
d
re-
d
ias@usp.br" class="auth_mail" title="E-mail the correspon
d
ing author
;
d
ias.torchio@gmail.com" class="auth_mail" title="E-mail the correspon
d
ing author
;
É
;
velin Aline Zanar
d
o
a
;
Roberta Lelis
D
utra
a
;
Flavia Balbo Piazzon
a
;
Gil Monteiro Novo-Filho
a
;
Marilia Moreira Montenegro
a
;
Amom Men
d
es Nascimento
a
;
Mariana Rocha
a
;
b
;
Fabricia An
d
reia Rosa Ma
d
ia
a
;
Thais Virgí
;
nia Moura Macha
d
o Costa
a
;
Cintia Milani
a
;
Regina Schultz
c
;
Fernan
d
a Tole
d
o Gon&cce
d
il
;
alves
d
;
Cintia Fri
d
man
d
;
Guilherme Lopes Yamamoto
e
;
D
é
;
bora Romeo Bertola
e
;
Chong Ae Kim
e
;
Leslie
D
omenici
Kulikowski
a
;
b
关键词:
Congenital malformations
;
Post-mortem cytogenomic investigation
;
D
NA copy number variations
刊名:Experimental an
d
Molecular Pathology
出版年:2016
2.
Efficacy of two fluorescence in situ hybri
d
ization (FISH) probes for
d
iagnosing malignant pleural effusions
作者:
D
é
;
bora C.B. Rosolen
a
;
b
;
Leslie
D
.
Kulikowski
b
;
Giorgio Bottura
b
;
Amon M. Nascimento
a
;
Milena Acencio
a
;
Lisete Teixeira
a
;
Francisco S. Vargas
a
;
Roberta K. Sales
a
;
Leila Antonangelo
a
;
b
;
l.antonangelo@hc.fm.usp.br
;
l.antonangelo@uol.com.br
关键词:
Pleural flui
d
;
FISH
;
Cytology
;
Malignancy
;
D
iagnosis
;
Tumor
刊名:Lung Cancer
出版年:2013
3.
Single-Nucleoti
d
e Polymorphism Array-Base
d
Characterization of Ring Chromosome 18
作者:
Ana Spreiz
;
Roberta S. Guilherme
;
Clau
d
io Castellan
;
An
d
rew Green
;
Olaf Rittinger
;
Brigitte Wellek
;
Barbara Utermann
;
Martin Er
d
el
;
Christine Fauth
;
E
dd
a Haberl
t ;
Chong A. Kim
;
Leslie
D
.
Kulikowski
;
Vera A. Meloni
;
Ger
d
Utermann
;
Johannes Zschocke
;
Maria I. Melaragno
;
D
ieter Kotzot
关键词:
OFC
;
Occipitofrontal hea
d
circumference
;
r(18)
;
Ring chromosome
;
SNP
;
Single-nucleoti
d
e polymorphism
刊名:The Journal of Pe
d
iatrics
出版年:2013
4.
D
isruption of the CREBBP gene an
d
d
ecrease
d
expression of CREB, NF¦ÊB p65, c-JUN, c-FOS, BCL2 an
d
c-MYC suggest immune
d
ysregulation
作者:
Leuri
d
an Cavalcante Torres
;
Leslie
D
omenici
Kulikowski
;
Patr¨ªcia Locosque Ramos
;
Sofia Mizuko Miura Sugayama
;
Carlos Alberto Moreira-Filho
;
Mag
d
a Carneiro-Sampaio
刊名:Human Immunology
出版年:2013
5.
A Novel Mutation in HPRT1 Gene Causing Variant Form of Lesch-Nyhan
D
isease
作者:
Felippe Borlot
;
Camila C. Aquino
;
S
;
ra R.B.R. Zoratti
;
Juliana
D
.
d
e Ara¨²jo
;
Leslie
D
.
Kulikowski
;
Chong A. Kim
刊名:Pe
d
iatric Neurology
出版年:2013
6.
Cytogenomic characterization of an unexpecte
d
17.6 Mb 9p
d
eletion associate
d
to a 14.8 Mb 20p
d
uplication in a
d
ysmorphic patient with multiple congenital anomalies presenting a normal G-ban
d
ing karyotype
作者:
Vera
d
e Freitas Ayres Meloni
a
;
Flavia Balbo Piazzon
d
;
Maria
d
e Fá
;
tima
d
e Faria Soares
b
;
Sylvia Satomi Takeno
a
;
D
enise Maria Christofolini
c
;
Leslie
D
omenici
Kulikowski
d
;
D
ecio Brunoni
a
;
Maria Isabel Melaragno
a
;
melaragno.morf@epm.br
关键词:
MLPA
;
multiplex-ligation probe amplification
;
FISH
;
Fluorescence in situ hybri
d
ization
;
OFC
;
Occipital&n
d
ash
;
frontal circumference
;
MRI
;
Magnetic resonance imaging
;
D
ECIPHER
;
D
atabase of Chromosomal Imbalance an
d
Phenotype in Humans using Ensembl Resource
刊名:Gene
出版年:2012
7.
Role of SNAP29, LZTR1 an
d
P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb
d
eletion in 22q11.2 region
作者:
D
iogo Cor
d
eiro
d
e Queiroz Soares
;
Roberta Lelis
D
utra
;
Caio Roble
d
o D'angioli Costa Quaio
;
Maria Isabel Melaragno
;
Leslie
D
omenici
Kulikowski
;
Leuri
d
an Cavalcante Torres
;
Chong Ae Kim
关键词:
22q11.2
D
S
;
Immuno
d
eficiency
;
SNAP29 gene
;
LZTR1 gene
;
P2RXL1 gene
;
Atypical 22q11.2
d
eletion
刊名:Clinical Immunology
出版年:2012
8.
Atypical
D
eletion in Williams-Beuren Syn
d
rome Critical Region Detecte
d
by MLPA in a Patient with Supravalvular Aortic Stenosis an
d
Learning Difficulty
作者:
Rachel Sayuri Honjo
a
;
rachel.honjo@gmail.com
;
Roberta Lelis
D
utra
a
;
b
;
Michele Moreira Nunes
a
;
Israel Gomy
a
;
Leslie
D
omenici
Kulikowski
a
;
b
;
Fernan
d
a Sarquis Jehee
a
;
Chong Ae Kim
a
刊名:Journal of Genetics an
d
Genomics
出版年:2012
9.
Cytogenetic molecular
d
elineation of a terminal 18q
d
eletion suggesting neo-telomere formation
作者:
Leslie
D
omenici
Kulikowski
;
Maisa Yoshimoto
;
Fern
;
a Teixeira
d
a Silva Bellucco
;
Sintia Iole Nogueira Belangero
;
D
enise Maria Christofolini
;
A
d
e Nubia Xavier Pacanaro
;
A
d
riana Bortolai
;
Marilia
d
e Arru
关键词:
18q
D
eletion
;
Terminal
d
eletion
;
Telomere healing
;
Neo-telomere
刊名:European Journal of Me
d
ical Genetics
出版年:2010
10.
Atypical 22q11.2
d
eletion in a patient with DGS/VCFS spectrum
作者:
Sintia Iole Nogueira
;
April M. Hacker
;
Fern
;
a T.S. Bellucco
;
D
enise M. Christofolini
;
Leslie
D
omenici
Kulikowski
;
Mirlene C.S.P. Cernach
;
Beverly S. Emanuel
;
Maria Isabel Melaragno
关键词:
22q11.2
D
eletion
;
Atypical
d
eletion
;
FISH
刊名:European Journal of Me
d
ical Genetics
出版年:2008
1
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