Recommendations for the classification of diseases as CFTR-related disorders

Bombieri, C.; Claustres, M.; De Boeck, K.; Derichs, N.; Dodge, J.; Girodon, E.; Sermet, I.; Schwarz, M.; Tzetis, M.; Wilschanski, M.; Bareil, C.; Bilton, D.; Castellani, C.; Cuppens, H.; Cutting, G.R.; Drevínek, P.; Farrell, P.; Elborn, J.S.; Jarvi, K.; Kerem, B.; Kerem, E.; Knowles, M.; Macek, M.; Munck, A.; Radojkovic, D.; Seia, M.; Sheppard, D.N.; Southern, K.W.; Stuhrmann, M.; Tullis, E.; Zielenski, J.; Pignatti, P.F.; Ferec, C.

doi:10.1016/S1569-1993(11)60014-3

« Previous Next »Journal of Cystic Fibrosis
Volume 10, Supplement 2 , Pages S86-S102, June 2011

Recommendations for the classification of diseases as CFTR-related disorders

C. Bombieri
- Department of life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona 37134, Italy
M. Claustres
- Laboratoire de Génétique Moléculaire, CHU Montpellier and INSERM U827, IURC Montpellier, France
K. De Boeck
- Department of Pediatrics – Pediatric Pulmonology, University Hospital, Leuven, Belgium
N. Derichs
- CF Centre, Medizinische Hochschule Hannover, Germany
J. Dodge
- Department of Child Health, University of Wales Swansea, Singleton Hospital, Swansea SA2 8QA, UK
E. Girodon
- APHP, Groupe Hospitalier Henri Mondor, Service de Biochimie-Génétique and INSERM U955 Equipe 11, Créteil, France
I. Sermet
- Pole de Pédiatrie Multidisciplinaire, Hôpital Necker, Université René Descartes, 75015 Paris, France
M. Schwarz
- Regional Molecular Genetics Service – Genetic Medicine, St. Mary's Hospital, Manchester, UK
M. Tzetis
- Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens, Greece
M. Wilschanski
- Pediatric Gastroenterology Unit and Cystic Fibrosis Center, Hadassah University Hospital, Jerusalem, Israel
C. Bareil
- Laboratoire de Génétique Moléculaire, CHU Montpellier and INSERM U827, IURC Montpellier, France
D. Bilton
- Royal Brompton Hospital, Sydney Street, London, UK
C. Castellani
- Verona Cystic Fibrosis Centre, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy
H. Cuppens
- Department of Human Genetics, Katholieke Universiteit Leuven, Gasthuisberg O&N 1 (602), B-3000, Leuven, Belgium
G.R. Cutting
- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
P. Drevínek
- Department of Pediatrics, Charles University, Second Faculty of Medicine and University Hospital Motol, Prague, CZ 150 06, Czech Republic
P. Farrell
- Department of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
J.S. Elborn
- School of Medicine, Dentistry and Biomédical Sciences, Queen's University of Belfast, Belfast, BT7 INN, Northern Ireland, UK
K. Jarvi
- Divisions of Urology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
B. Kerem
- Department of Genetics, The Life Sciences Institute, Givat Ram Campus, The Hebrew University, Jerusalem 91904, Israel
E. Kerem
- Department of Pediatrics and Pediatric Pulmonology, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel
M. Knowles
- Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
M. Macek Jr
- Department of Biology and Medical Genetics, Charles University, Second Faculty of Medicine and University Hospital Motol, Prague, CZ 150 06, Czech Republic
A. Munck
- CF Center, Department of Pediatric Gastroenterology and Nutrition, University Hospital Robert Debré, AP-HP 48, 75019 Paris, France
D. Radojkovic
- Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
M. Seia
- Laboratorio di Genética Medica, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlínica, Milano, Italy
D.N. Sheppard
- School of Physiology and Pharmacology, Medical Sciences Building, University of Bristol, Bristol BS8 1TD, UK
K.W. Southern
- Institute of Child Health, University of Liverpool, Alder Hey Children's Hospital, Liverpool, L12 2AP, UK
M. Stuhrmann
- Institute of Human Genetics, Medical School Hannover, Hannover, Germany
E. Tullis
- Adult Cystic Fibrosis Centre, St Michael's Hospital, and Division of Respirology Department of Medicine, University of Toronto, Ontario, Canada
J. Zielenski
- Genetics and Genomics Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
P.F. Pignatti
- Department of life and Reproduction Sciences, Section of Biology and Genetics, University of Verona, Verona 37134, Italy
C. Ferec
- Génétique Moléculaire et Génétique Epidémiologique INSERM U613 Laboratoire de Génétique Moléculaire et d'Histocompatibilité CHU de Brest, F-29609, Brest, France
- Corresponding author: Claude Ferec, MD, PhD, Professor of Molecular Genetics, Laboratory of Molecular Genetics, 46 rue Felix Le Dantec, 29200 Brest, France. Tel.: +33 398444138; fax: +33 298467910