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Springer电子图书(1)
SpringerLink电子期刊(9)
Elsevier电子期刊(51)
在“
Elsevier电子期刊
”中,
命中:
51
条,耗时:小于0.01 秒
在所有数据库中总计命中:
61
条
1.
Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
作者:
Philip M. Farrell
;
MD
;
PhD
1
;
Terry B. White
;
PhD
2
;
Clement L. Ren
;
MD
3
;
Sarah E. Hempstead
;
MS
2
;
Frank Accurso
;
MD
4
;
Nico Derichs
;
MD
5
;
Michelle Howenstine
;
MD
3
;
Susanna A. McColley
;
MD
6
;
Michael Rock
;
MD
1
;
Margaret Rosenfeld
;
MD
;
MPH
7
;
Isabelle Sermet-Gaudelus
;
MD
;
PhD
8
;
Kevin W. Southern
;
MBChB
;
PhD
9
;
Bruce C. Marshall
;
MD
2
;
Patrick R. Sosnay
;
MD
10
关键词:
newborn screening
;
CF-screen positive
;
inconclusive diagnosis
;
CFTR-related metabolic syndrome
;
immunoreactive
trypsinogen
;
intestinal current measurement
;
nasal potential difference
;
pancreatitis associated protein
;
sweat test
刊名:The Journal of Pediatrics
出版年:2017
2.
Diagnosis of Cystic Fibrosis in Screened Populations
作者:
Philip M. Farrell
;
MD
;
PhD
1
;
Terry B. White
;
PhD
2
;
Michelle S. Howenstine
;
MD
3
;
Anne Munck
;
MD
4
;
Richard B. Parad
;
MD
;
MPH
5
;
Margaret Rosenfeld
;
MD
;
MPH
6
;
Olaf Sommerburg
;
MD
7
;
Frank J. Accurso
;
MD
8
;
Jane C. Davies
;
MBChB
;
FRCPCH
;
MD
9
;
Michael J. Rock
;
MD
1
;
Don B. Sanders
;
MD
;
MS
10
;
Michael Wilschanski
;
MBBS
11
;
Isabelle Sermet-Gaudelus
;
MD
;
PhD
12
;
Hannah Blau
;
MBBS
13
;
Silvia Gartner
;
MD
14
;
Susanna A. McColley
;
MD
15
关键词:
CF screen positive
;
inconclusive diagnosis
;
CFTR-related metabolic syndrome
;
immunoreactive
trypsinogen
;
intestinal current measurement
;
nasal potential difference
;
newborn screening
;
pancreatitis associated protein
;
sweat test
刊名:The Journal of Pediatrics
出版年:2017
3.
Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
作者:
Clement L. Ren
;
MD
1
;
Drucy S. Borowitz
;
MD
2
;
Tanja Gonska
;
MD
3
;
Michelle S. Howenstine
;
MD
1
;
Hara Levy
;
MD
4
;
John Massie
;
MBBS
;
FRACP
;
PhD
5
;
Carlos Milla
;
MD
6
;
Anne Munck
;
MD
7
;
Kevin W. Southern
;
MBChB
;
PhD
8
关键词:
immunoreactive
trypsinogen
;
intestinal current measurement
;
nasal potential difference
;
newborn screening
;
sweat chloride
刊名:The Journal of Pediatrics
出版年:2017
4.
Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned
作者:
Philip M. Farrell
;
MD
;
PhD
1
;
Terry B. White
;
PhD
2
;
Nico Derichs
;
MD
3
;
Carlo Castellani
;
MD
4
;
Beryl J. Rosenstein
;
MD
5
关键词:
CF screen positive
;
inconclusive diagnosis
;
CFSPID
;
CFTR
;
CFTR-related metabolic syndrome
;
CRMS
;
ICD-10
;
ICM
;
immunoreactive
trypsinogen
;
intestinal current measurement
;
IRT
;
nasal potential difference
;
newborn screening
;
sweat test
刊名:The Journal of Pediatrics
出版年:2017
5.
Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era
作者:
Michael J. Coffey
;
BMed
;
MD
1
;
Viola Whitaker
1
;
Natalie Gentin
;
MBBCh
;
FRACP
1
;
2
;
Rosie Junek
;
DCH
3
;
Carolyn Shalhoub
;
BSc(Hons)
;
GradDip(Counselling)
4
;
Scott Nightingale
;
BMed(Hons)
;
MClinEpid
;
FRACP
5
;
6
;
Jodi Hilton
;
BMed
;
FRACP
7
;
8
;
Veronica Wiley
;
PhD
3
;
9
;
Bridget Wilcken
;
MD
;
FRACP
3
;
9
;
Kevin J. Gaskin
;
MD
;
FRACP
3
;
9
;
Chee Y. Ooi
;
MBBS
;
FRACP
;
PhD
1
;
10
;
keith.ooi@unsw.edu.au
关键词:
cystic fibrosis transmembrane conductance regulator
;
growth
;
lung function
;
Australia
刊名:The Journal of Pediatrics
出版年:2017
6.
A product of
immunoreactive
trypsinogen
and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening
作者:
Sophia Weidler
a
;
1
;
Konrad H. Stopsack
b
;
1
;
Jutta Hammermann
a
;
Olaf Sommerburg
c
;
Marcus A. Mall
c
;
d
;
Georg F. Hoffmann
e
;
Dirk Kohlmü
;
ller
e
;
Jü
;
rgen G. Okun
e
;
Milan Macek Jr.
f
;
Felix Votava
g
;
Veronika Kruli&scaron
;
ová
;
f
;
Miroslava Bala&scaron
;
čaková
;
f
;
Veronika Skalická
;
h
;
Min Ae Lee-Kirsch
a
;
Marina Stopsack
i
;
marina.stopsack@uniklinikum-dresden.de
关键词:
AUC
;
area under curve
;
CF
;
cystic fibrosis
;
CFNBS
;
cystic fibrosis newborn screening
;
CFSPID
;
CF screen-positive inconclusive diagnosis
;
CI
;
confidence interval
;
IRT
;
immunoreactive
trypsinogen
;
MI
;
meconium ileus
;
PAP
;
pancreatitis-associated protein.
刊名:Journal of Cystic Fibrosis
出版年:2016
7.
Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat
Immunoreactive
Trypsinogen
and Genetic Analysis
作者:
Marci K. Sontag
;
PhD
1
;
marci.sontag@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author
;
Rachel Lee
;
PhD
2
;
3
;
Daniel Wright
;
BS
3
;
Debra Freedenberg
;
MD
;
PhD
2
;
Scott D. Sagel
;
MD
;
PhD
4
关键词:
neonatal screening
;
accuracy
;
carriers
;
cystic fibrosis-related metabolic syndrome
刊名:The Journal of Pediatrics
出版年:2016
8.
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants
作者:
Anne Bergougnoux
a
;
anne.bergougnoux@inserm.fr" class="auth_mail" title="E-mail the corresponding author
;
Amandine Boureau-Wirth
c
;
Cé
;
cile Rouzier
c
;
Jean-Pierre Altieri
a
;
Fanny Verneau
a
;
Lise Larrieu
a
;
Michel Koenig
a
;
b
;
Mireille Claustres
a
;
b
;
Caroline Raynal
a
;
b
关键词:
Cystic fibrosis
;
CFTR gene
;
Newborn screening
;
Complex allele
;
False positive
刊名:Journal of Cystic Fibrosis
出版年:2016
9.
Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years
作者:
Emma Lundman
a
;
emlund@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
H. Junita Gaup
a
;
heggau@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
Egil Bakkeheim
b
;
egil.bakkeheim@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
Edda J. Olafsdottir
e
;
edda.jonina.olafsdottir@helse-bergen.no" class="auth_mail" title="E-mail the corresponding author
;
Terje Rootwelt
c
;
d
;
trootwel@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
Olav Trond Storrø
;
sten
b
;
UXOLTO@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
Rolf D. Pettersen
a
;
rdpetter@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
关键词:
Cystic fibrosis
;
Newborn screening
;
CFTR
刊名:Journal of Cystic Fibrosis
出版年:2016
10.
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants
作者:
Danieli Barino Salinas
a
;
dsalinas@chla.usc.edu" class="auth_mail" title="E-mail the corresponding author
;
Patrick R. Sosnay
b
;
1
;
psosnay@jhmi.edu" class="auth_mail" title="E-mail the corresponding author
;
Colleen Azen
c
;
cazen@chla.usc.edu" class="auth_mail" title="E-mail the corresponding author
;
Suzanne Young
d
;
young.suzy@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Karen S. Raraigh
e
;
kraraigh@jhmi.edu" class="auth_mail" title="E-mail the corresponding author
;
Thomas G. Keens
a
;
tkeens@chla.usc.edu" class="auth_mail" title="E-mail the corresponding author
;
Martin Kharrazi
f
;
2
;
marty.kharrazi@cdph.ca.gov" class="auth_mail" title="E-mail the corresponding author
关键词:
Cystic fibrosis
;
Newborn screening
;
CFTR2
;
Non-CF-causing variants
;
CF-causing variants
;
Genotype-phenotype associations
刊名:Journal of Cystic Fibrosis
出版年:2015
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