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在“Elsevier电子期刊”中，命中：834条，耗时：0.0130288 秒

在所有数据库中总计命中：870条

1.Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

作者：Patrick R. Sosnay ; MD¹ ; Danieli B. Salinas ; MD² ; Terry B. White ; PhD³ ; Clement L. Ren ; MD⁴ ; Philip M. Farrell ; MD ; PhD⁵ ; Karen S. Raraigh ; MGC⁶ ; Emmanuelle Girodon ; MD⁷ ; Carlo Castellani ; MD⁸

关键词：CFTR genetic testing ; CFTR mutations ; CFTR-related disorder ; cystic fibrosis ; genotype ; genotype-phenotype correlation mutation ; MVCC ; penetrance ; variant

刊名：The Journal of Pediatrics

出版年：2017

2.Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

作者：Clement L. Ren ; MD¹ ; Drucy S. Borowitz ; MD² ; Tanja Gonska ; MD³ ; Michelle S. Howenstine ; MD¹ ; Hara Levy ; MD⁴ ; John Massie ; MBBS ; FRACP ; PhD⁵ ; Carlos Milla ; MD⁶ ; Anne Munck ; MD⁷ ; Kevin W. Southern ; MBChB ; PhD⁸

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

3.The changing prevalence of pulmonary infection in adults with cystic fibrosis: A longitudinal analysis

作者：Kay A. Ramsay^a ; ^b ; ^{kay.ramsay@qimrberghofer.edu.au} ; Harpreet Sandhu^c ; ^{harps.k.sandhu@gmail.com} ; James B. Geake^d ; ^e ; ^{James.Geake@sa.gov.au} ; Emma Ballard^f ; ^{Emma.Ballard@qimrberghofer.edu.au} ; Peter O'Rourke^f ; ^{Peter.O'Rourke@qimrberghofer.edu.au} ; Claire E. Wainwright^b ; ^g ; ^{Claire.Wainwright@health.qld.gov.au} ; David W. Reid^h ; ⁱ ; ^{David.Reid@qimrberghofer.edu.au} ; Timothy J. Kidd^j ; ^k ; ^l ; ^{t.m.kidd@uq.edu.au} ; Scott C. Bell^a ; ^b ; ⁱ ; ^{Scott.Bell@qimrbeghofer.edu.au}

关键词：BMI ; Body mass index ; CF ; Cystic fibrosis ; CFRD ; Cystic fibrosis-related diabetes ; CFTR ; Cystic fibrosis transmembrane conductance regulator ; CI ; Confidence interval ; FEV1% predicted ; Forced expiratory volume in one second ; FVC % predicted ; Forced vital capacity ; IQR ; Interquartile range ; MRSA ; Methicillin-resistant Staphylococcus aureus ; MSSA ; Methicillin-sensitive Staphylococcus aureus ; NTM ; Nontuberculous mycobacteria ; RCH ; Royal Children's Hospital ; TPCH ; The Prince Charles Hospital

刊名：Journal of Cystic Fibrosis

出版年：2017

4.New horizons for cystic fibrosis treatment

作者：Isabelle Fajac^a ; ^b ; ^{isabelle.fajac@parisdescartes.fr} ; Kris De Boeck^c ; ^{christiane.deboeck@uzleuven.be}

关键词：CF ; cystic fibrosis ; CFTR ; cystic fibrosis transmembrane conductance regulator ; MSD ; membrane-spanning domain ; NBD ; nucleotide-binding domain ; FEV1 ; forced expiratory volume in 1 s

刊名：Pharmacology & Therapeutics

出版年：2017

5.Correlation of sweat chloride and percent predicted FEV₁ in cystic fibrosis patients treated with ivacaftor

作者：Meredith C. Fidler^a ; ^{Meredith_fidler@vrtx.com} ; Jack Beusmans^b ; Paul Panorchan^b ; Fredrick Van Goor^a

关键词：CF ; cystic fibrosis ; CFTR ; CF transmembrane conductance regulator ; CI ; confidence interval ; ppFEV1 ; percent predicted forced expiratory volume in 1 s ; q12h ; every 12 h

刊名：Journal of Cystic Fibrosis

出版年：2017

6.Prevalence of elevated liver enzymes in children with cystic fibrosis diagnosed by newborn screen

作者：Samantha A. Woodruff^a ; Marci K. Sontag^c ; Frank J. Accurso^b ; Ronald J. Sokol^a ; Michael R. Narkewicz^a ; ^{narkewicz@childrenscolorado.org}

关键词：AST ; aspartate aminotransferase ; ALT ; alanine aminotransferase ; CFTR ; cystic fibrosis transmembrane conductance regulator ; GGT ; gamma-glutamyltranspeptidase ; ULN ; upper limit of normal

刊名：Journal of Cystic Fibrosis

出版年：2017

7.Microbiome in the pathogenesis of cystic fibrosis and lung transplant-related disease

作者：Sushma K. Cribbs^a ; ^b ; ^{skomaku@emory.edu} ; James M. Beck^c ; ^d

关键词：CF ; cystic fibrosis ; BOS ; bronchiolitis obliterans syndrome ; rRNA ; ribosomal small subunit RNA ; HIV ; human immunodeficiency virus-1 ; COPD ; chronic obstructive pulmonary disease ; CFTR ; CF transmembrane conductance regulator ; BAL ; bronchoalveolar lavage ; OP ; oropharyngeal ; IS ; induced sputum ; ES ; expectorated sputum ; GI ; gastrointestinal ; OW ; oral wash

刊名：Translational Research

出版年：2017

8.Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

作者：Michael J. Coffey ; BMed ; MD¹ ; Viola Whitaker¹ ; Natalie Gentin ; MBBCh ; FRACP¹ ; ² ; Rosie Junek ; DCH³ ; Carolyn Shalhoub ; BSc(Hons) ; GradDip(Counselling)⁴ ; Scott Nightingale ; BMed(Hons) ; MClinEpid ; FRACP⁵ ; ⁶ ; Jodi Hilton ; BMed ; FRACP⁷ ; ⁸ ; Veronica Wiley ; PhD³ ; ⁹ ; Bridget Wilcken ; MD ; FRACP³ ; ⁹ ; Kevin J. Gaskin ; MD ; FRACP³ ; ⁹ ; Chee Y. Ooi ; MBBS ; FRACP ; PhD¹ ; 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

9.Molecular analysis of exon 13 of cystic fibrosis patients in Middle East: High frequency of K710X mutation

作者：Nasibeh Karimi^a ; ^{Nasibe.karimi23@gmail.com} ; Reza Alibakhshi^b ; ^{ralibakhshi@kums.ac.ir}

关键词：CFTR ; Cystic fibrosis ; K710X ; Iran ; Middle East

刊名：Meta Gene

出版年：2017

10.Diagnosis of Cystic Fibrosis in Nonscreened Populations

作者：Patrick R. Sosnay ; MD¹ ; Terry B. White ; PhD² ; Philip M. Farrell ; MD ; PhD³ ; Clement L. Ren ; MD⁴ ; Nico Derichs ; MD⁵ ; Michelle S. Howenstine ; MD⁴ ; Jerry A. Nick ; MD⁶ ; Kris De Boeck ; MD⁷

刊名：The Journal of Pediatrics

出版年：2017

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