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在“Elsevier电子期刊”中，命中：12条，耗时：小于0.01 秒

在所有数据库中总计命中：13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.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

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.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

5.Hallmarks of therapeutic management of the cystic fibrosis functional landscape

作者：Margarida D. Amaral^a ; ^{mdamaral@fc.ul.pt" class="auth_mail" title="E-mail the corresponding author} ; William E. Balch^b ; ^{webalch@scripps.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：CF ; cystic fibrosis ; CFTR ; cystic fibrosis transmembrane conductance regulator ; CFTR2 ; CFFL cystic fibrosis functional landscape ; SN ; social network ; ER ; endoplasmic reticulum ; MS ; mass spectrometry ; HCM ; high-content microscopy ; HTS ; high-throughput screening ; PN ; proteostasis network ; UPS ; ubiquitin&ndash ; proteasome system

刊名：Journal of Cystic Fibrosis

出版年：2015

6.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

7.310 Prevalence of CF and spectrum of CFTR mutations in the Portuguese population

作者：A. Grangeia^a ; S. Alves^a ; L. Gonç ; alves^a ; A. Santos^b ; A. Barros^a ; C. Moura^a ; F. Carvalho^a

刊名：Journal of Cystic Fibrosis

出版年：2015

8.10 Mild cystic fibrosis phenotype in adult patients with novel 3272-16T>A mutation

作者：S. Krasovskiy^a ; E. Amelina^a ; M. Usacheva^a ; A. Stepanova^b ; A. Poliakov^b ; M.-P. Audré ; zet^c ; C. Fé ; rec^c ; N. Kashirskaya^b

刊名：Journal of Cystic Fibrosis

出版年：2015

9.Is there evidence for correct diagnosis in cystic fibrosis registries?

作者：Muriel Thomas^a ; ^{Muriel.thomas@wiv-isp.be" class="auth_mail} ; Lydie Lemonnier^b ; Vincent Gulmans^c ; Lutz Naehrlich^d ; Franç ; ois Vermeulen^e ; Harry Cuppens^f ; Carlo Castellani^g ; Aleksandra Norek^h ; Kris De Boeck^e

关键词：Cystic fibrosis ; Diagnosis ; Registry

刊名：Journal of Cystic Fibrosis

出版年：May, 2014

10.PDX-1 Expression Is Associated with Islet Proliferation In Vitro and In Vivo

作者：Mark A. Feanny ; Shawn P. Fagan ; Nikiforos Ballian ; Shi-He Liu ; Zhijun Li ; Xiaoping Wang ; William Fisher ; F. Charles Brunicardi ; Narasimhaswamy S. Belaguli

关键词：PDX-1 ; islet proliferation ; β ; -cell differentiation ; somatostatin receptors ; SSTR1 ; SSTR2 ; SSTR5 ; p27 ; p38 ; Ex-4 ; GLP-1 ; pancreas growth

刊名：Journal of Surgical Research

出版年：2008

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