The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania Lucian Frenţescu, Emma Brownsell,

Slides:

Advertisements

Similar presentations

Long-term non-invasive ventilation in cystic fibrosis — Experience over two decades William G. Flight, Jonathan Shaw, Susan Johnson, A. Kevin Webb, Andrew.

Advertisements

J.H.K. Hull, W. Tucker, A.G. Hatrick, R.K. Knight, T.B.L. Ho

Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies Don B. Sanders, Huichuan J. Lai,

Cheryl Cameron, Mark W. Lodes, William M. Gershan

The prevalence of “risky behaviour” in adults with cystic fibrosis

Treatment compliance in children and adults with Cystic Fibrosis

P. Whitaker, N. Shaw, J. Gooi, C. Etherington, S. Conway, D. Peckham

Cystic fibrosis: A new mutation in the Lebanese population

R. Roberts, L. Speight, J. Lee, L. George, R. I. Ketchell, D. Lau, J

How does heart rate recovery after sub-maximal exercise correlate with maximal exercise testing in children with CF? Sarah P. Cohen, David M. Orenstein

J.H.K. Hull, W. Tucker, A.G. Hatrick, R.K. Knight, T.B.L. Ho

Megan R. Nelson, Craig R. Adamski, Audrey Tluczek

Urinary incontinence in 9��16��year olds with cystic fibrosis compared to other respiratory conditions and a normal group W.J. Browne, C.J. Wood, M.

Measures of body habitus are associated with lung function in adults with cystic fibrosis: A population-based study Doug L. Forrester, Alan J. Knox,

Microbiological yield from induced sputum compared to oropharyngeal swab in young children with cystic fibrosis Marco Zampoli, Komala Pillay, Henri Carrara,

Laura Viviani, Baroukh M. Assael, Eitan Kerem

Cirrhosis and other liver disease in cystic fibrosis

Katelyn Krivchenia, Don Hayes, Joseph D. Tobias, Dmitry Tumin

Lung transplantation in patients with cystic fibrosis and Mycobacterium abscessus infection Marita Gilljam, Henrik Scherstén, Martin Silverborn, Bodil.

The ease of breathing test tracks clinical changes in cystic fibrosis

Controlled clinical trials in cystic fibrosis — are we doing better?

Adherence to nebulised therapies in adolescents with cystic fibrosis is best on week- days during school term-time Rosemary Ball, Kevin W. Southern, Pamela.

Anju Anand, Elizabeth Tullis, Anne Stephenson, Preyanka Abhyankar

D. Stevens, P.J. Oades, N. Armstrong, C.A. Williams

Claire J. Tipping, Rebecca L. Scholes, Narelle S. Cox

Cystic fibrosis mortality trend in Italy from 1970 to 2011

Influence of digital clubbing on oxygen saturation measurements by pulse-oximetry in cystic fibrosis patients Filip Van Ginderdeuren, Karlien Van Cauwelaert,

Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c G>A Aleksandra Nikolic, Nedeljko Radlovic,

Efficacy of high dose phylloquinone in correcting vitamin K deficiency in cystic fibrosis Donna Drury, Vijay Laxmi Grey, Guylaine Ferland, Caren Gundberg,

Pulmonary nocardiosis in cystic fibrosis

A.H. Gifford Journal of Cystic Fibrosis

Inhalation solutions — Which ones may be mixed

Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India Shivaram S. Shastri, Madhulika Kabra, Sushil.

Sophia L. Markantonis, Anna Katelari, Eleni Pappa, Stavros Doudounakis

E. Tschiedel, H. Grasemann, F. Ratjen Journal of Cystic Fibrosis

Colon Cancer in Cystic Fibrosis patients: Is this a growing problem?

Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment

Ultrasound and magnetic resonance imaging assessment of joint disease in symptomatic patients with cystic fibrosis arthropathy G. Fitch, K. Williams,

Sally H. Pattison, Geraint B. Rogers, Martin Crockard, J

Prevalence and risk factors for recovery of filamentous fungi in individuals with cystic fibrosis Christopher R. Sudfeld, Elliott C. Dasenbrook, William.

Cytokine gene polymorphisms and severity of CF lung disease

Stenotrophomonas maltophilia in cystic fibrosis: Improved detection by the use of selective agar and evaluation of antimicrobial resistance P. Goncalves-Vidigal,

Nasal polyposis in lung transplant recipients with cystic fibrosis

Narelle S. Cox, Jennifer Follett, Karen O. McKay

Chee Y. Ooi, Peter R. Durie Journal of Cystic Fibrosis

Novel concepts in evaluating antimicrobial therapy for bacterial lung infections in patients with cystic fibrosis Geraint B. Rogers, Lucas R. Hoffman,

Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United.

Nutritional decline in cystic fibrosis related diabetes: The effect of intensive nutritional intervention H. White, K. Pollard, C. Etherington, I. Clifton,

Trends in pathogens colonising the respiratory tract of adult patients with cystic fibrosis, 1985–2005 F.A. Millar, N.J. Simmonds, M.E. Hodson Journal.

F. Vermeulen, P. Lebecque, K. De Boeck, T. Leal

A new method of sweat testing: the CF Quantum®sweat test

Successful treatment of cepacia syndrome with a combination of intravenous cyclosporin, antibiotics and oral corticosteroids Francis J. Gilchrist, A.

V. Thompson, N. Mayer-Hamblett, M. Kloster, D. Bilton, P.A. Flume

Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies Don B. Sanders, Huichuan J. Lai,

H. White, A.M. Morton, S.P. Conway, D.G. Peckham

J.E. Spahr, R.B. Love, M. Francois, K. Radford, K.C. Meyer

D.F. Waterhouse, A.M. McLaughlin, C.G. Gallagher

The role of respiratory viruses in adult patients with cystic fibrosis receiving intravenous antibiotics for a pulmonary exacerbation C. Etherington,

CFTR modulators and pregnancy: Our work has only just begun

‘Peeling paint’ dermatitis as a presenting sign of cystic fibrosis

Beta-lactam allergy in adults with cystic fibrosis

Cheryl Cameron, Mark W. Lodes, William M. Gershan

Lutz Goldbeck, Sven Zerrer, Tim G. Schmitz Journal of Cystic Fibrosis

Khin M. Gyi, Margaret E. Hodson, Magdi Y. Yacoub

David Adeboyeku, Sandra Scott, Margaret E. Hodson

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens Hongjun.

Increasing resistance of the Liverpool Epidemic Strain (LES) of Pseudomonas aeruginosa (Psa) to antibiotics in cystic fibrosis (CF)—A cause for concern?

Elisabeth P. Dellon, Margaret W. Leigh, James R. Yankaskas, Terry L

Population pharmacokinetics of tobramycin administered thrice daily and once daily in children and adults with cystic fibrosis D.J. Touw, A.J. Knox,

Absence of a gender gap in survival

Presentation transcript:

The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania Lucian Frenţescu, Emma Brownsell, Joanna Hinks, Geraldine Malone, Helen Shaw, Livia Budişan, Michael Bulman, Martin Schwarz, Liviu Pop, Mirela Filip, Emil Tomescu, Simona Moşescu, Ioan Popa, Gheorghe Benga Journal of Cystic Fibrosis Volume 7, Issue 5, Pages 423-428 (September 2008) DOI: 10.1016/j.jcf.2008.03.004 Copyright © 2008 European Cystic Fibrosis Society Terms and Conditions

Fig. 1 Identification of R735K mutation by fluorescent sequencing. Journal of Cystic Fibrosis 2008 7, 423-428DOI: (10.1016/j.jcf.2008.03.004) Copyright © 2008 European Cystic Fibrosis Society Terms and Conditions