CFTR mutation in an Arab patient: Clinical and functional features of 875+1G→A/875+1G→A genotype Elide Spinelli, Manuela Seia, Paola Melotti, Eleonora.

Slides:

Advertisements

Similar presentations

Use of the insulin pump in treat cystic fibrosis related diabetes Dana S. Hardin, Julie Rice, Mark Rice, Randall Rosenblatt Journal of Cystic Fibrosis.

Advertisements

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

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

Poor growth in an infant with cystic fibrosis due to an antenatal perforation and incomplete bowel obstruction Isobel Brookes, Maya Desai, Gillian Duthie,

Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation Helge Hebestreit, Annette Sauer-Heilborn, Rainald Fischer,

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

Consequences of partial duplications of the human CFTR gene on cf diagnosis: Mutations or ectopic variations Ayman El-Seedy, Marie-Claude Pasquet, Thiery.

Nasal potential difference measurements in diagnosis of cystic fibrosis: An international survey Lutz Naehrlich, Manfred Ballmann, Jane Davies, Nico.

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

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function Fredrick Van Goor, Haihui Yu, Bill.

Is infection with hypermutable Pseudomonas aeruginosa clinically significant? Adi Auerbach, Eitan Kerem, Marc Victor Assous, Elie Picard, Maskit Bar-Meir

Bilateral midshaft femoral fractures in an adolescent baseball player

Cystic fibrosis: A new mutation in the Lebanese population

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

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

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

Successful treatment of cepacia syndrome

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,

Frank J. Accurso, Fredrick Van Goor, Jiuhong Zha, Anne J

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

Delayed publication of clinical trials in cystic fibrosis

Expression of the inflammatory regulator A20 correlates with lung function in patients with cystic fibrosis Catriona Kelly, Mark T. Williams, J. Stuart.

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

Cynthia M. Ward, Tara Brinkman, Keith J. Slifer, Shruti M. Paranjape

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

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

A.H. Gifford Journal of Cystic Fibrosis

Demographics of glucose metabolism in cystic fibrosis

Inhalation solutions — Which ones may be mixed

Physiologic endpoints for clinical studies for cystic fibrosis

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?

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

Nasal polyposis in lung transplant recipients with cystic fibrosis

Elliott C. Dasenbrook, Gregory S. Sawicki Journal of Cystic Fibrosis

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

Whole blood fatty acid analysis with micromethod in cystic fibrosis and pulmonary disease Patrizia Risé, Sonia Volpi, Claudio Colombo, Rita Francesca.

D.Y.F. Mak, J. Sykes, A.L. Stephenson, L.C. Lands

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.

Australian epidemic strain pseudomonas (AES-1) declines further in a cohort segregated cystic fibrosis clinic Amanda L. Griffiths, Danielle F. Wurzel,

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

Results of antibiotic susceptibility testing do not influence clinical outcome in children with cystic fibrosis M.N. Hurley, A.H. Amin Ariff, C. Bertenshaw,

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

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

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

L. Uppaluri, S.J. England, T.F. Scanlin Journal of Cystic Fibrosis

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

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

CFTR, investigated with the two-electrode voltage-clamp technique: the importance of knowing the series resistance Georg Nagel Journal of Cystic Fibrosis

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.

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

Theresa A. Laguna, Scott D. Sagel, Marci K. Sontag, Frank J. Accurso

Absence of a gender gap in survival

Presentation transcript:

CFTR mutation in an Arab patient: Clinical and functional features of 875+1G→A/875+1G→A genotype Elide Spinelli, Manuela Seia, Paola Melotti, Eleonora Marchina, Rita Padoan Journal of Cystic Fibrosis Volume 8, Issue 4, Pages 282-284 (July 2009) DOI: 10.1016/j.jcf.2009.05.003 Copyright © 2009 European Cystic Fibrosis Society Terms and Conditions

Fig. 1 The patient's family tree. Journal of Cystic Fibrosis 2009 8, 282-284DOI: (10.1016/j.jcf.2009.05.003) Copyright © 2009 European Cystic Fibrosis Society Terms and Conditions

Fig. 2 NPD measurements. The agents indicated at the bottom were added at the times (seconds) shown on the x axis. On the y axis, PD are expressed in mV. The graph was obtained during measurements of the left nostril and is representative of both nostrils. Journal of Cystic Fibrosis 2009 8, 282-284DOI: (10.1016/j.jcf.2009.05.003) Copyright © 2009 European Cystic Fibrosis Society Terms and Conditions