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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(14)
NATURE电子期刊(3)
Elsevier电子期刊(23)
在“
Elsevier电子期刊
”中,
命中:
23
条,耗时:小于0.01 秒
在所有数据库中总计命中:
41
条
1.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
作者:
Luigi Laino
a
;
luigi.laino@uniroma1.it" class="auth_mail" title="E-mail the corresponding author
;
Irene Bottillo
a
;
Caterina Piedimonte
b
;
Laura
Bernardini
c
;
Barbara Torres
c
;
Barbara Grammatico
a
;
Simone Bargiacchi
a
;
Claudia Mulargia
a
;
Mauro Calvani
d
;
Francesco Cardona
b
;
Marco Castori
a
;
Paola Grammatico
a
关键词:
Duplication
;
Facial dysmorphism
;
Intragenic
;
IL1RAPL1
;
X-linked intellectual disability
刊名:European Journal of Paediatric Neurology
出版年:2016
2.
X and Y chromosome-bearing spermatozoa are equally able to uptake and internalize exogenous DNA by sperm-mediated gene transfer in swine
作者:
Andrea Zaniboni
;
Marcella Spinaci
;
Augusta Zannoni
;
Chiara
Bernardini
;
Monica Forni
;
Maria
Laura
Bacci
;
maria
laura
.bacci@unibo.it" class="auth_mail" title="E-mail the corresponding author
关键词:
Swine
;
Sperm sorting
;
SMGT
;
X/Y chromosome-bearing spermatozoa
;
Differences
刊名:Research in Veterinary Science
出版年:2016
3.
Deleterious effects of tributyltin on porcine vascular stem cells physiology
作者:
Chiara
Bernardini
a
;
chiara.
bernardini
5@unibo.it" class="auth_mail" title="E-mail the corresponding author
;
Augusta Zannoni
a
;
Martina Bertocchi
a
;
Francesca Bianchi
b
;
c
;
Roberta Salaroli
a
;
Giuliana Botelho
d
;
Maria
Laura
Bacci
a
;
Vittoria Ventrella
a
;
Monica Forni
a
关键词:
Stem cells
;
Pericyte
;
Tributyltin
;
Pig model
;
Vascular disorders
刊名:Comparative Biochemistry and Physiology, Part C
出版年:2016
4.
Advanced therapies in Parkinson’s disease: Long-term retrospective study
作者:
Aristide Merola
a
;
aristidemerola@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Alberto J. Espay
b
;
Alberto Romagnolo
a
;
Andrea
Bernardini
a
;
Laura
Rizzi
a
;
Michela Rosso
a
;
Kristy J. Espay
b
;
Maurizio Zibetti
a
;
Michele Lanotte
a
;
Leonardo Lopiano
a
关键词:
Parkinson&rsquo
;
s disease
;
Electrical stimulation
;
Movement disorders
;
Neuropharmacology
;
Neurosurgery
刊名:Parkinsonism & Related Disorders
出版年:2016
5.
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis
作者:
M. Cristina Digilio
a
;
mcristina.digilio@opbg.net
;
Laura
Bernardini
b
;
1
;
l.
bernardini
@css-mendel.it
;
Federica Consoli
b
;
2
;
f.consoli@css-mendel.it
;
Francesca R. Lepri
a
;
3
;
francescaromana.lepri@opbg.net
;
M. Grazia Giuffrida
b
;
1
;
m.giuffrida@css-mendel.it
;
Anwar Baban
a
;
4
;
anwar.baban@opbg.net
;
Cecilia Surace
a
;
3
;
Rosangela Ferese
b
;
2
;
r.ferese@css-mendel.it
;
Adriano Angioni
a
;
3
;
Antonio Novelli
b
;
1
;
a.novelli@css-mendel.it
;
Bruno Marino
c
;
5
;
bruno.marino@uniroma1.it
;
Alessandro De Luca
b
;
2
;
a.deluca@css-mendel.it
;
Bruno Dallapiccola
a
;
6
;
bruno.dallapiccola@opbg.net
关键词:
1q21.1 Deletion
;
1q21.1 Duplication
;
CGH array
;
Congenital heart defect
刊名:European Journal of Medical Genetics
出版年:2013
6.
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
作者:
Maria Cecilia D'Asdia
a
;
b
;
1
;
Isabella Torrente
a
;
1
;
Federica Consoli
a
;
b
;
Rosangela Ferese
a
;
b
;
Monia Magliozzi
a
;
Laura
Bernardini
a
;
Valentina Guida
a
;
b
;
Maria Cristina Digilio
c
;
Bruno Marino
d
;
e
;
Bruno Dallapiccola
c
;
Alessandro De Luca
a
;
a.deluca@css-mendel.it
关键词:
Ellis van Creveld syndrome
;
Weyers acrofacial dyostosis
;
EVC
;
EVC2
刊名:European Journal of Medical Genetics
出版年:2013
7.
6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder
作者:
Margherita Bozza
a
;
Laura
Bernardini
b
;
Antonio Novelli
b
;
Paola Brovedani
a
;
Elena Moretti
a
;
Raffaello Canapicchi
a
;
Viola Doccini
a
;
Tiziana Filippi
a
;
Agatino Battaglia
a
;
agatino.battaglia@inpe.unipi.it
关键词:
Microdeletion 6p25
;
Array-CGH
;
Gyral pattern anomaly
;
Intellectual disability
;
Speech and language disorder
;
LYRM4
刊名:European Journal of Paediatric Neurology
出版年:2013
8.
Expression of fluorescent reporter protein in equine embryos produced through intracytoplasmic sperm injection mediated gene transfer (ICSI-MGT)
作者:
Andrea Zaniboni
a
;
andrea.zaniboni3@unibo.it
;
Barbara Merlo
a
;
Augusta Zannoni
a
;
Chiara
Bernardini
a
;
Marialuisa Lavitrano
b
;
Monica Forni
a
;
Gaetano Mari
a
;
Maria
Laura
Bacci
a
关键词:
Sperm mediated gene transfer
;
Horse
;
Transgenesis
;
ICSI
刊名:Animal Reproduction Science
出版年:2013
9.
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features
作者:
Agatino Battaglia
;
Viola Doccini
;
Laura
Bernardini
;
Antonio Novelli
;
Sara Loddo
;
Anna Capalbo
;
Tiziana Filippi
;
John C. Carey
关键词:
Chromosomal microarray (CMA)
;
Array-CGH
;
Developmental delay
;
Intellectual disability
;
Neurodevelopmental disorders
;
Autism spectrum disorders
;
Dysmorphic features
刊名:European Journal of Paediatric Neurology
出版年:November, 2013
10.
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer
作者:
Chiara Palka Bayard de Volo
a
;
1
;
chiarapalka@libero.it
;
Melissa Alfonsi
b
;
1
;
Valentina Gatta
b
;
Antonio Novelli
c
;
Laura
Bernardini
c
;
Donatella Fantasia
b
;
Ivana Antonucci
b
;
Domenico Angelucci
d
;
Robert Zori
e
;
Liborio Stuppia
b
;
f
;
Francesco Chiarelli
a
;
Giuseppe Calabrese
b
;
g
关键词:
ZFP90
;
Zinc finger protein 90
;
CDH3
;
Cadherin-3
;
CDH1
;
Cadherin-1
;
LBC
;
lobular breast cancer
;
HDGC
;
hereditary diffuse gastric cancer
;
array-CGH
;
Array-comparative genomic hybridization
;
EEM
;
Ectodermal dysplasia
;
Ectrodactyly and Macular dystrophy
;
GC
刊名:Gene
出版年:2012
1
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