Cystic fibrosis

Citations 1-10 of 31 total displayed.

Letter to JMG
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

C Thauvin-Robinet, A Munck, F Huet, E Génin, G Bellis, E Gautier, M-P Audrézet, C Férec, G Lalau, M Des Georges, M Claustres, T Bienvenu, B Gérard, P Boisseau, F Cabet-Bey, D Feldmann, C Clavel, E Bieth, A Iron, B Simon-Bouy, C Costa, R Medina, J Leclerc, D Hubert, R Nové-Josserand, I Sermet-Gaudelus, G Rault, J Flori, S Leroy, N Wizla, G Bellon, A Haloun, S Perez-Martin, G d’Acremont, H Corvol, A Clément, E Houssin, C Binquet, C Bonithon-Kopp, C Alberti-Boulmé, M A Morris, L Faivre, M Goossens, M Roussey, the Collaborating Working Group on R117H and E Girodon
J. Med. Genet. 2009 46: 752 -758; published online before print as 10.1136/jmg.2009.067215 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, B Tümmler
J. Med. Genet. 2008; 45: 47-54. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui
J. Med. Genet. 2007; 44: 341-346. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Variants in mannose-binding lectin and tumour necrosis factor affect survival in cystic fibrosis

Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Jr, Xinjing Wang, Garry R Cutting
J. Med. Genet. 2007 44: 209 -214; published online before print as 10.1136/jmg.2006.046318 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice

R Jin, C A Hodges, M L Drumm, M R Palmert
J. Med. Genet. 2006; 43: e29. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter
J. Med. Genet. 2005; 42: 350-357. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation

M T Howard, N Malik, C B Anderson, J L A Voskuil, J F Atkins, R J Gibbons
J. Med. Genet. 2004; 41: 951-956. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only Figures ]  

Online mutation reports
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, E Girodon
J. Med. Genet. 2004; 41: e118. [Extract] [Full text] [PDF] [Request Permissions] [ Figure 1: Alternate version ]  

Letters to JMG
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion

E Schollen, S Kjaergaard, T Martinsson, S Vuillaumier-Barrot, M Dunoe, L Keldermans, N Seta, G Matthijs
J. Med. Genet. 2004; 41: 877-880. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype

J Yarden, D Radojkovic, K De Boeck, M Macek, Jr, D Zemkova, V Vavrova, R Vlietinck, J-J Cassiman, H Cuppens
J. Med. Genet. 2004; 41: 629-633. [Extract] [Full text] [PDF] [Request Permissions]