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SpringerLink电子期刊(18)
Elsevier电子期刊(48)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
48
条,耗时:小于0.01 秒
在所有数据库中总计命中:
67
条
1.
CYP21A2 genetics: When genotype does not fit phenotype
作者:
Ilaria Sani
a
;
Aurora Natalia Rossodivita
a
;
Michela Mariani
a
;
Alessandra Costella
b
;
Rossana Molinario
b
;
Paola Concolino
b
;
paolaconcolino78@libero.it" class="auth_mail" title="E-mail the corresponding author
;
Ettore
Capoluongo
b
关键词:
CAH
;
congenital adrenal hyperplasia
;
SW
;
salt wasting syndrome
刊名:Clinical Biochemistry
出版年:2016
2.
The Italian pilot external quality assessment program for cystic fibrosis sweat test
作者:
Marco Salvatore
a
;
marco.salvatore@iss.it" class="auth_mail" title="E-mail the corresponding author
;
Giovanna Floridia
a
;
Annalisa Amato
a
;
Federica Censi
a
;
Claudio Carta
a
;
Maria Chiara de Stefano
a
;
Gianluca Ferrari
a
;
Fabrizio Tosto
a
;
Ettore
Capoluongo
b
;
Ubaldo Caruso
c
;
Giuseppe Castaldo
d
;
e
;
Natalia Cirilli
f
;
Carlo Corbetta
g
;
Rita Padoan
h
;
Valeria Raia
i
;
Domenica Taruscio
a
关键词:
EQA
;
external quality assessment
;
ST
;
sweat test
;
CF
;
cystic fibrosis
;
CFTR
;
cystic fibrosis transmembrane regulator
;
ISS
;
Istituto Superiore di Sanità
;
CNMR
;
National Centre for Rare Diseases
;
SIFC
;
Italian Cystic Fibrosis Society
;
SIMMESN
;
Italian Society for the Study of Inborn Metabolic Diseases and Newborn Screening
;
SIBiOC
;
Italian Society of Clinical Biochemistry and Clinical Molecular Biology
;
ID
;
Identification Number
;
SLS
;
sweat like samples
;
NA
;
not assessable
刊名:Clinical Biochemistry
出版年:2016
3.
Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years
作者:
Paola Concolino
;
paolaconcolino78@libero.it" class="auth_mail" title="E-mail the corresponding author
;
Alessandra Costella
;
Ettore
Capoluongo
关键词:
MEN1
;
cancer
;
mutations
;
molecular diagnosis
;
variants
刊名:Cancer Genetics
出版年:2016
4.
Red blood cell PK deficiency: An update of PK-LR gene mutation database
作者:
Giulia Canu
;
giuliacanu@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Maria De Bonis
;
Angelo Minucci
;
angelo.minucci@virgilio.it" class="auth_mail" title="E-mail the corresponding author
;
angelo.minucci@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author
;
Ettore
Capoluongo
关键词:
PK-LR
;
pyruvate kinase liver and red blood cells
;
PK-M
;
pyruvate kinase muscle
;
CNSHA
;
chronic nonspherocytic hemolytic anemia
;
RBCs
;
red blood cells
;
LOVD
;
Leiden Open Variants Database
;
HGMD
;
Human Gene Mutation Database
刊名:Blood Cells, Molecules and Diseases
出版年:2016
5.
Effect of prenatal steroidal inhibition of sPLA2 in a rat model of preterm lung
作者:
Ana Remesal
a
;
1
;
Daniele De Luca
b
;
c
;
1
;
daniele.deluca@aphp.fr" class="auth_mail" title="E-mail the corresponding author
;
Laura San Feliciano
a
;
Maria Isidoro-Garcia
d
;
Angelo Minucci
c
;
Krizia Pocino
c
;
Josefina Casas
e
;
Gemma Fabrias
e
;
Ettore
D.
Capoluongo
c
;
Dolores Ludena de la Cruz
a
关键词:
Preterm neonate
;
Rat
;
Secretory phospholipase A2
;
Steroids
;
Surfactant
刊名:Pulmonary Pharmacology & Therapeutics
出版年:2016
6.
Serum levels of C-terminal agrin fragment (CAF) are associated with sarcopenia in older multimorbid community-dwellers: Results from the ilSIRENTE study
作者:
Francesco Landi
a
;
francesco.landi@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author
;
Riccardo Calvani
a
;
Maria Lorenzi
a
;
Anna Maria Martone
a
;
Matteo Tosato
a
;
Michael Drey
b
;
Emanuela D'Angelo
a
;
Ettore
Capoluongo
c
;
Andrea Russo
d
;
Roberto Bernabei
a
;
Graziano Onder
a
;
Emanuele Marzetti
a
;
emarzetti@live.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Aging
;
Frailty
;
Biomarkers
;
Skeletal muscle
;
Muscle wasting
;
Functional impairment
;
Physical performance
;
Co-morbidity
;
Anthropometry
;
Neuromuscular junction
;
Mid-arm muscle circumference
;
Handgrip
;
Gait speed
;
Renal failure
刊名:Experimental Gerontology
出版年:2016
7.
PCA3 score of 20 could improve prostate cancer detection: Results obtained on 734 Italian individuals
作者:
Ettore
Capoluongo
;
Carlo Federico Zambon
;
Daniela Basso
;
Stefania Boccia
;
S
;
ro Rocchetti
;
Emanuele Leoncini
;
Sara Palumbo
;
Andrea Padoan
;
Giuseppe Albino
;
Angelo Todaro
;
Tommaso Prayer-Galetti
;
Filiberto Zattoni
;
Cecilia Zuppi
;
Mario Plebani
关键词:
PCA3 score
;
Progensa
;
PCa
刊名:Clinica Chimica Acta
出版年:15 February, 2014
8.
DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism
作者:
Angelo Minucci
a
;
angelo.minucci@virgilio.it" class="auth_mail
;
angelo.minucci@rm.unicatt.it" class="auth_mail
;
Giulia Canu
a
;
Paola Concolino
a
;
Donatella Guarino
a
;
Stefania Boccia
b
;
Silvana Ficarra
c
;
Cecilia Zuppi
a
;
Bruno Giardina
a
;
Ettore
Capoluongo
a
;
e
capoluongo
@rm.unicatt.it" class="auth_mail
关键词:
ACE
;
angiotensin-converting enzyme
;
RAA
;
renin&ndash
;
angiotensin&ndash
;
aldosterone
;
I/D
;
insertion/deletion
;
bp
;
base pair
;
HRMA
;
high resolution melting analysis
;
PCR
;
polymerase chain reaction
;
Ta
;
annealing temperature
;
Tm
;
melting temperature
刊名:Clinica Chimica Acta
出版年:20 April, 2014
9.
Calf circumference, frailty and physical performance among older adults living in the community
作者:
Francesco Landi
a
;
francesco_landi@rm.unicatt.it" class="auth_mail
;
Graziano Onder
a
;
Andrea Russo
a
;
Rosa Liperoti
a
;
Matteo Tosato
a
;
Anna Maria Martone
a
;
Ettore
Capoluongo
b
;
Roberto Bernabei
a
关键词:
Calf circumference
;
Physical performance
;
Frail elderly
刊名:Clinical Nutrition
出版年:June 2014
10.
Comments to 鈥淎 rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency鈥?/span>
作者:
Paola Concolino
;
Enrica Mello
;
Aurora Rossodivita
;
Bruno Giardina
;
Ettore
Capoluongo
关键词:
ASO-PCR
;
Allele-specific oligonucleotide polymerase chain reaction
;
MLPA
;
Multiplex ligation-dependent Probe Amplification
;
CAH
;
Congenital adrenal hyperplasia
;
RPA
;
Relative peak area
刊名:Gene
出版年:25 January, 2014
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