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在“Elsevier电子期刊”中，命中：175条，耗时：0.1349366 秒

在所有数据库中总计命中：2,141条

1.Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned

作者：Philip M. Farrell ; MD ; PhD¹ ; Terry B. White ; PhD² ; Nico Derichs ; MD³ ; Carlo Castellani ; MD⁴ ; Beryl J. Rosenstein ; MD⁵

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

2.Diagnosis of Cystic Fibrosis in Screened Populations

作者：Philip M. Farrell ; MD ; PhD¹ ; Terry B. White ; PhD² ; Michelle S. Howenstine ; MD³ ; Anne Munck ; MD⁴ ; Richard B. Parad ; MD ; MPH⁵ ; Margaret Rosenfeld ; MD ; MPH⁶ ; Olaf Sommerburg ; MD⁷ ; Frank J. Accurso ; MD⁸ ; Jane C. Davies ; MBChB ; FRCPCH ; MD⁹ ; Michael J. Rock ; MD¹ ; Don B. Sanders ; MD ; MS¹⁰ ; Michael Wilschanski ; MBBS¹¹ ; Isabelle Sermet-Gaudelus ; MD ; PhD¹² ; Hannah Blau ; MBBS¹³ ; Silvia Gartner ; MD¹⁴ ; Susanna A. McColley ; MD¹⁵

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.Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor

作者：Myriam Mesbahi^a ; ¹ ; Michal Shteinberg^b ; ^c ; ¹ ; Michael Wilschanski^d ; Aurelie Hatton^a ; Thao Nguyen&ndash ; Khoa^a ; Hannah Friedman^d ; Michael Cohen^d ; Virginie Escabasse^e ; Muriel Le Bourgeois^a ; Vicenzina Lucidi^f ; Isabelle Sermet-Gaudelus^f ; ^{Isabelle.sermet@aphp.fr} ; Laurence Bassinet^g ; ² ; Galit Livnat^b ; ^c ; ²

关键词：Cystic fibrosis ; Nasal potential difference ; Evaporimetry ; Short circuit current ; Ivacaftor ; CFTR modulators

刊名：Journal of Cystic Fibrosis

出版年：2017

4.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

5.Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

作者：Philip M. Farrell ; MD ; PhD¹ ; Terry B. White ; PhD² ; Clement L. Ren ; MD³ ; Sarah E. Hempstead ; MS² ; Frank Accurso ; MD⁴ ; Nico Derichs ; MD⁵ ; Michelle Howenstine ; MD³ ; Susanna A. McColley ; MD⁶ ; Michael Rock ; MD¹ ; Margaret Rosenfeld ; MD ; MPH⁷ ; Isabelle Sermet-Gaudelus ; MD ; PhD⁸ ; Kevin W. Southern ; MBChB ; PhD⁹ ; Bruce C. Marshall ; MD² ; Patrick R. Sosnay ; MD¹⁰

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

6.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

7.Nasal potential difference outcomes support diagnostic decisions in cystic fibrosis

作者：Gloria Tridello^a ; Laura Menin^a ; Emily Pintani^a ; Gabriella Bergamini^a ; ^b ; Baroukh Maurice Assael^a ; Paola Melotti^a ; ^{paola.melotti@ospedaleuniverona.it" class="auth_mail" title="E-mail the corresponding author} ; ^{paolamelotti@libero.it" class="auth_mail" title="E-mail the corresponding author}

关键词：Nasal potential difference measurements ; Cystic fibrosis transmembrane conductance regulator ; Cystic fibrosis ; Diagnosis ; CFTR related disorders ; Sweat test ; CFTR genetic test

刊名：Journal of Cystic Fibrosis

出版年：2016

8.A semi-blinded study comparing 2 methods of measuring nasal potential difference: Subcutaneous needle versus dermal abrasion

作者：E. De Wachter^a ; ^{elke.dewachter@uzbrussel.be" class="auth_mail" title="E-mail the corresponding author} ; I. De Schutter^a ; A. Meulemans^b ; R. Buyl^c ; A. Malfroot^a

关键词：NPD ; nasal potential difference ; Ndl ; needle method ; Abr ; dermal abrasion method ; HV ; healthy volunteers ; RB ; reference bridge ; IT ; inferior turbinate ; Amilo ; amiloride solution ; Cl-Free ; chloride-free solution ; Iso ; isoproterenol solution ; Wils score ; Wilschanski score ; Ser score ; Sermet score ; BA ; Bland&ndash ; Altman

刊名：Journal of Cystic Fibrosis

出版年：2016

9.Non-allergic asthma as a CFTR-related disorder

作者：Angela Schulz ^{schulz.angela@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author} ; Burkhard Tü ; mmler ; ^{tuemmler.burkhard@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author}

关键词：Asthma ; Bronchiectasis ; CFTR ; Intestinal current measurement ; Nasal transepithelial potential difference

刊名：Journal of Cystic Fibrosis

出版年：2016

10.Analysis of nasal potential in murine cystic fibrosis models

作者：Mé ; lanie Faria da Cunha^a ; ¹ ; Juliette Simonin^a ; ¹ ; Ali Sassi^a ; Romain Freund^b ; Auré ; lie Hatton^a ; Charles-Henry Cottart^a ; Nadia Elganfoud^a ; Rachid Zoubairi^a ; Corina Dragu^a ; Jean Philippe Jais^b ; Alexandre Hinzpeter^a ; Aleksander Edelman^a ; Isabelle Sermet-Gaudelus^a ; ^{isabelle.sermet@aphp.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：ABCC7 ; ATP binding cassette subfamily C member 7 ; ATP ; Adenosine triphosphate ; BALF ; Bronchoalveolar lavage fluid ; CaCC ; Ca2+ activated chloride channel ; cAMP ; 3&prime ; 5&prime ; -cyclic adenosine monophosphate ; CF ; Cystic fibrosis ; CFTR ; Cystic fibrosis transmembrane conductance regulator ; ClC ; Chloride channel family ; CLCN2 ; Chloride channel protein 2 ; CNG ; Cyclic nucleotide gated ; DIDS ; Disodium 4 ; 4&prime ; -diisothiocyanatostilbene-2 ; 2&prime ; -disulfonate ; DPC ; Diphenylamine-2-carboxylic acid ; E

刊名：International Journal of Biochemistry and Cell Biology

出版年：2016

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