Cystic fibrosis

相关论文数: 11

最高引用论文

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers

Jonathan Cohn, John P. Neoptolemos, Jinong Feng, Yan Jin, Zefei Jiang, William Greenhalf, Christopher McFaul, Roger Mountford, Steve S. Sommer

引用数: 114 • 2005

Rapid Detection of Emerging Pathogens and Loss of Microbial Diversity Associated with Severe Lung Disease in Cystic Fibrosis

W.G. Flight, Ann Smith, Christopher Paisey, Julian R. Marchesi, Matthew Bull, P. Norville, Ken Mutton, A.K. Webb, R.J. Bright-Thomas, Andrew Jones, Eshwar Mahenthiralingam

引用数: 108 • 2015

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis

J Demarchi, C. Sue Richards, Raymond G. Fenwick, Robert Pace, Arthur L. Beaudet

引用数: 56 • 1994

Synthesis, SAR, Crystal Structure, and Biological Evaluation of Benzoquinoliziniums as Activators of Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Channels

Cécile Marivingt‐Mounir, Caroline Norez, Renaud Dérand, Laurence Bulteau‐Pignoux, Dung Nguyen‐Huy, Β. Viossat, Georges Morgant, Frédéric Becq, J.‐M. VIERFOND, Yvette Mettey

引用数: 53 • 2004

Detection of Five Rare Cystic Fibrosis Mutations Peculiar to Southern Italy: Implications in Screening for the Disease and Phenotype Characterization for Patients with Homozygote Mutations

Giuseppe Castaldo, Antonella Fuccio, Cécile Cazeneuve, Luigi Picci, Donatello Salvatore, Valeria Raia, Maurizio Scarpa, Michel Goossens, Francesco Salvatore

引用数: 49 • 1999

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.

Giuseppe Castaldo, Emilia Rippa, Gianfranco Sebastio, Valeria Raia, P Ercolini, G De Ritis, Donatello Salvatore, Francesco Salvatore

引用数: 25 • 1996

The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis

Marco Lucarelli, Sabina Maria Bruno, Silvia Pierandrei, Giampiero Ferraguti, Giancarlo Testino, Gessica Truglio, Roberto Ström, Serena Quattrucci

引用数: 21 • 2016

Identification and Validation of Hits from High Throughput Screens for CFTR Modulators

Stan Pasyk, Steven V. Molinski, Wilson Yu, Paul D. W. Eckford, Christine E. Bear

引用数: 11 • 2012

Orphan Missense Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator

Fleur Fresquet, Romain Clément, Caroline Norez, Adélaïde Sterlin, Patricia Melín, Frédéric Becq, Alain Kitzis, Vincent Thoreau, Frédéric Bilan

引用数: 3 • 2011

P141 Microbiological evaluation of an automated UV-disinfection robot on cystic fibrosis-related pathogens

Kim Thomsen, L. Kyndi, Helle Krogh Johansen, Jenny Dahl Knudsen

引用数: 2 • 2023

Designing innovative therapies for neuropathic pain: pros and cons of target‐based drug discovery

James Inglese

引用数: 2 • 2014