Sermet-Gaudelus I - Search Results

1

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M. Jeanson L, et al. Hum Mutat. 2016 Aug;37(8):776-85. doi: 10.1002/humu.23005. Epub 2016 May 12. Hum Mutat. 2016. PMID: 27120127

2

Characterization of SLC26A9 in patients with CF-like lung disease.

Bakouh N, Bienvenu T, Thomas A, Ehrenfeld J, Liote H, Roussel D, Duquesnoy P, Farman N, Viel M, Cherif-Zahar B, Amselem S, Taam RA, Edelman A, Planelles G, Sermet-Gaudelus I. Bakouh N, et al. Hum Mutat. 2013 Oct;34(10):1404-14. doi: 10.1002/humu.22382. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 24272871

3

AGER -429T/C is associated with an increased lung disease severity in cystic fibrosis.

Beucher J, Boëlle PY, Busson PF, Muselet-Charlier C, Clement A, Corvol H; French C F Modifier Gene Study Investigators. Beucher J, et al. PLoS One. 2012;7(7):e41913. doi: 10.1371/journal.pone.0041913. Epub 2012 Jul 30. PLoS One. 2012. PMID: 22860029 Free PMC article.

4

Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosis.

Boëlle PY, Viviani L, Busson PF, Olesen HV, Ravilly S, Stern M, Assael BM, Barreto C, Drevinek P, Thomas M, Krivec U, Mei-Zahav M, Vibert JF, Clement A, Mehta A, Corvol H; French CF Modifier Gene Study Investigators; European CF Registry Working Group. Boëlle PY, et al. Orphanet J Rare Dis. 2012 Sep 7;7:64. doi: 10.1186/1750-1172-7-64. Orphanet J Rare Dis. 2012. PMID: 22958330 Free PMC article.

5

Omalizumab treatment for allergic bronchopulmonary aspergillosis in young patients with cystic fibrosis.

Perisson C, Destruys L, Grenet D, Bassinet L, Derelle J, Sermet-Gaudelus I, Thumerelle C, Prevotat A, Rosner V, Clement A, Corvol H. Perisson C, et al. Respir Med. 2017 Dec;133:12-15. doi: 10.1016/j.rmed.2017.11.007. Epub 2017 Nov 10. Respir Med. 2017. PMID: 29173443 Free article.

6

Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.

Baatallah N, Bitam S, Martin N, Servel N, Costes B, Mekki C, Chevalier B, Pranke I, Simonin J, Girodon E, Hoffmann B, Mornon JP, Callebaut I, Sermet-Gaudelus I, Fanen P, Edelman A, Hinzpeter A. Baatallah N, et al. Hum Mutat. 2018 Apr;39(4):506-514. doi: 10.1002/humu.23389. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29271547

7

Comparative proteomics of respiratory exosomes in cystic fibrosis, primary ciliary dyskinesia and asthma.

Rollet-Cohen V, Bourderioux M, Lipecka J, Chhuon C, Jung VA, Mesbahi M, Nguyen-Khoa T, Guérin-Pfyffer S, Schmitt A, Edelman A, Sermet-Gaudelus I, Guerrera IC. Rollet-Cohen V, et al. J Proteomics. 2018 Aug 15;185:1-7. doi: 10.1016/j.jprot.2018.07.001. Epub 2018 Jul 3. J Proteomics. 2018. PMID: 30032860

8

Disruption of cytokeratin-8 interaction with F508del-CFTR corrects its functional defect.

Colas J, Faure G, Saussereau E, Trudel S, Rabeh WM, Bitam S, Guerrera IC, Fritsch J, Sermet-Gaudelus I, Davezac N, Brouillard F, Lukacs GL, Herrmann H, Ollero M, Edelman A. Colas J, et al. Hum Mol Genet. 2012 Feb 1;21(3):623-34. doi: 10.1093/hmg/ddr496. Epub 2011 Oct 28. Hum Mol Genet. 2012. PMID: 22038833 Free PMC article.

9

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

Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712

10

Genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model of cystic fibrosis.

Le Henaff C, Faria Da Cunha M, Hatton A, Tondelier D, Marty C, Collet C, Zarka M, Geoffroy V, Zatloukal K, Laplantine E, Edelman A, Sermet-Gaudelus I, Marie PJ. Le Henaff C, et al. Hum Mol Genet. 2016 Apr 1;25(7):1281-93. doi: 10.1093/hmg/ddw009. Epub 2016 Jan 13. Hum Mol Genet. 2016. PMID: 26769674

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

252 results

Search Page

Filters