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Wiley电子期刊(4)	NATURE电子期刊(8)	ACS电子期刊(20)
SpringerLink电子期刊(172)	Elsevier电子期刊(251)

在“Elsevier电子期刊”中，命中：251条，耗时：0.0419783 秒

在所有数据库中总计命中：455条

1.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

2.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

3.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

4.A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

作者：Hideki Kato ; M.D. ; Ph.D.^a ; ¹ ; Yosuke Kokunai ; M.D. ; Ph.D.^b ; ^c ; ¹ ; Carine Dalle ; Ph.D^c ; Tomoya Kubota ; M.D. ; Ph.D.^b ; ^d ; ^e ; Yuta Madokoro ; M.D.^a ; Hiroyuki Yuasa ; M.D. ; Ph.D.^a ; Yuto Uchida ; M.D.^a ; Tomomasa Ikeda ; M.D.^a ; Hideki Mochizuki ; M.D. ; Ph.D.^b ; Sophie Nicole ; Ph.D.^c ; Bertrand Fontaine ; M.D. ; Ph.D.^c ; Masanori P. Takahashi ; M.D. ; Ph.D.^b ; ^e ; ^{mtakahas@neurol.med.osaka-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Shigehisa Mitake ; M.D. ; Ph.D.^a

关键词：Non-dystrophic myotonia ; Paralysis ; Channelopathy ; Sodium channel ; Chloride channel

刊名：Journal of the Neurological Sciences

出版年：2016

5.Evaluation of a systems biology approach to identify pharmacological correctors of the mutant CFTR chloride channel

作者：Emanuela Pesce^a ; Giulia Gorrieri^a ; Francesco Sirci^b ; Francesco Napolitano^b ; Diego Carrella^b ; Emanuela Caci^a ; Valeria Tomati^a ; Olga Zegarra-Moran^a ; Diego di Bernardo^b ; ; Luis J.V. Galietta^a ;

关键词：CFTR ; Chloride channel ; F508del ; Corrector ; Systems biology

刊名：Journal of Cystic Fibrosis

出版年：2016

6.A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient

作者：Binghui Zeng^a ; Ru Li^b ; Yuelin Hu^b ; Bin Hu^a ; Qiang Zhao^a ; Huijiao Liu^c ; Ping Yuan^d ; Yiming Wang^e ; ^f ; ^{ywzhong@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：IMO ; infantile malignant osteopetrosis ; IAO ; intermediate autosomal osteopetrosis ; ADO ; autosomal dominant osteopetrosis ; ADO2 ; autosomal dominant osteopetrosis type 2 ; CLCN7 ; Chloride channel ; voltage-sensitive 7 ; TCIRG1 ; T-cell immune regulator 1 ; ClC-7 ; Chloride channel protein 7 ; MR ; Magnetic Resonance ; LDH ; lactate dehydrogenase ; CK ; creatine kinase ; CK-MB ; MB isoenzyme of creatine kinase

刊名：Gene

出版年：2016

7.c- Src and its role in cystic fibrosis

作者：Marí ; a Macarena Massip Copiz (Dr.) ; Tomá ; s Antonio Santa Coloma ; ^{tsantacoloma@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; ^{tomas_santacoloma@uca.edu.ar" class="auth_mail" title="E-mail the corresponding author} (Dr.)

关键词：c-Src ; Cystic fibrosis ; CFTR ; Intracellular chloride ; IL-1β ; PP2 ; IL1RN

刊名：European Journal of Cell Biology

出版年：2016

8.GABA_A receptor cysteinyl mutants and the ginkgo terpenoid lactones bilobalide and ginkgolides

作者：Chiu Chin Ng ; Rujee K. Duke ; Tina Hinton ; Graham A.R. Johnston ; ^{grahamj@mail.usyd.edu.au" class="auth_mail" title="E-mail the corresponding author}

关键词：GABA (PubChem CID ; 119174) ; Picrotoxinin (PubChem CID ; 442292) ; Picrotin (PubMed CID ; 442291) ; Bilobalide (PubChem CID ; 73581) ; Ginkgolide A (PubChem CID ; 9909368) ; Ginkgolide B (PubChem CID ; 6324617) ; Ginkgolide C (PubChem CID ; 161120) ; pCMBS (PubChem CID ; 11136) MTSEA (PubChem CID ; 57363907)

刊名：European Journal of Pharmacology

出版年：2016

9.Translating the genetics of cystic fibrosis to personalized medicine

作者：Harriet Corvol^a ; ^b ; ^c ; Kristin E. Thompson^a ; ^b ; Olivier Tabary^a ; ^b ; Philippe le Rouzic^a ; ^b ; Loï ; c Guillot^a ; ^b ; ^{loic.guillot@inserm.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：AAV ; Adeno associated virus ; ABC ; ATP-binding cassette ; ACMG ; American College Medical Genetics ; AH ; Ancestral Haplotype ; ASL ; airway surface liquid ; ATP ; Adenosine triphosphate ; cas ; CRISPR associated ; CF ; Cystic fibrosis ; CFTR ; Cystic Fibrosis Transmembrane conductance Regulator ; CFTR2 ; Clinical and Functional Translation of CFTR ; CRISPR ; clustered regulatory interspaced short palindromic repeat ; CYP3A ; cytochrome P450 family 3 ; subfamily A ; DDI ; drug-drug interaction ; EMA ; European Medical Ag

刊名：Translational Research

出版年：2016

10.Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene

作者：Luis Vicente Monteagudo^a ; ^{monteagu@unizar.es" class="auth_mail" title="E-mail the corresponding author} ; ^{luismonteagudoibanez@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Marí ; a Teresa Tejedor^a ; Juan José ; Ramos^b ; Delia Lacasta^b ; Luis Miguel Ferrer^b

关键词：Muscle chloride channel gene ; Ovine congenital myotonia ; Single nucleotide variation

刊名：The Veterinary Journal

出版年：2015

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