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Items: 1 to 20 of 69

  • The following term was not found in PubMed: Terdoo.
1.

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.

Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, Lainey E, Legendre M, Plessier A, Sicre de Fontbrune F, Wemeau-Stervinou L, Cottin V, Nathan N, Crestani B.

Orphanet J Rare Dis. 2019 Dec 3;14(1):280. doi: 10.1186/s13023-019-1256-5.

2.

Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping.

Degrugillier F, Simon S, Aissat A, Remus N, Mekki C, Decrouy X, Hatton A, Hinzpeter A, Hoffmann B, Sermet-Gaudelus I, Callebaut I, Fanen P, Prulière-Escabasse V.

Clin Case Rep. 2019 Sep 27;7(11):2128-2134. doi: 10.1002/ccr3.2443. eCollection 2019 Nov.

3.

Interstitial lung disease reveals 48,XXYY syndrome in a child.

Gros M, Aissat A, Perez-Martin S, Abou Taam R, Funalot B, Fanen P, Epaud R, de Becdelievre A.

Acta Paediatr. 2019 Nov 13. doi: 10.1111/apa.15090. [Epub ahead of print] No abstract available.

PMID:
31721284
4.

CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma.

Raynal C, Girodon E, Audrezet MP, Cabet F, Pagin A, Reboul MP, Dufernez F, Fergelot P, Bergougnoux A, Fanen P, Ferec C, Bienvenu T.

Br J Dermatol. 2019 Nov;181(5):1097-1099. doi: 10.1111/bjd.18162. Epub 2019 Aug 19. No abstract available.

PMID:
31310009
5.

Renal Infarction and Its Consequences for Renal Function in Patients With Cardiac Amyloidosis.

Dang J, Abulizi M, Moktefi A, El Karoui K, Deux JF, Bodez D, Le Bras F, Belhadj K, Remy P, Issaurat P, Plante-Bordeneuve V, Molinier-Frenkel V, Fanen P, Guendouz S, Kharoubi M, Itti E, Damy T, Audard V.

Mayo Clin Proc. 2019 Jun;94(6):961-975. doi: 10.1016/j.mayocp.2019.02.012. Epub 2019 May 15.

PMID:
31103217
7.

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Pranke I, Bidou L, Martin N, Blanchet S, Hatton A, Karri S, Cornu D, Costes B, Chevalier B, Tondelier D, Girodon E, Coupet M, Edelman A, Fanen P, Namy O, Sermet-Gaudelus I, Hinzpeter A.

ERJ Open Res. 2018 Feb 23;4(1). pii: 00080-2017. doi: 10.1183/23120541.00080-2017. eCollection 2018 Jan. Erratum in: ERJ Open Res. 2018 Jul 13;4(3):.

8.

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.

Hum Mutat. 2018 Apr;39(4):506-514. doi: 10.1002/humu.23389. Epub 2018 Jan 16.

PMID:
29271547
9.

The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.

AlAnazi A, Epaud R, Heena H, de Becdelievre A, Miqdad AM, Fanen P.

Ann Thorac Med. 2017 Jul-Sep;12(3):213-215. doi: 10.4103/atm.ATM_386_16.

10.

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, Nathan N, Marchand-Adam S, Thumerelle C, Fauroux B, Bosdure E, Houdouin V, Delestrain C, Louha M, Couderc R, De Becdelievre A, Fanen P, Funalot B, Crestani B, Deschildre A, Dubus JC, Epaud R.

Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26.

11.

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PMID:
28603918
12.

The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.

Hinzpeter A, Reboul MP, Callebaut I, Zordan C, Costes B, Guichoux J, Iron A, Lacombe D, Martin N, Arveiler B, Fanen P, Fergelot P, Girodon E.

Clin Case Rep. 2017 Mar 30;5(5):658-663. doi: 10.1002/ccr3.760. eCollection 2017 May.

13.

Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE).

Gorram F, Alarcon F, Perdry H, Hébrard B, Damy T, Fanen P, Funalot B, Nuel G, Planté-Bordeneuve V.

Amyloid. 2017 Mar;24(sup1):115-116. doi: 10.1080/13506129.2017.1293515. No abstract available.

PMID:
28434346
14.

Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.

Delestrain C, Simon S, Aissat A, Medina R, Decrouy X, Nattes E, Tarze A, Costes B, Fanen P, Epaud R.

Eur J Hum Genet. 2017 Jun;25(6):779-782. doi: 10.1038/ejhg.2017.36. Epub 2017 Mar 15.

15.

[Cardiac amyloidosis: How to recognize them and manage them?]

Bodez D, Galat A, Guellich A, Deux JF, Rosso J, Le Bras F, Funalot B, Fanen P, Benhaiem N, Planté-Bordeneuve V, Dubois-Randé JL, Lellouche N, Guendouz S, Molinier-Frenkel V, Mohty D, Damy T.

Presse Med. 2016 Oct;45(10):845-855. doi: 10.1016/j.lpm.2016.07.001. Epub 2016 Aug 1. French.

PMID:
27492996
16.

New use for an old drug: COX-independent anti-inflammatory effects of sulindac in models of cystic fibrosis.

Rocca J, Manin S, Hulin A, Aissat A, Verbecq-Morlot W, Prulière-Escabasse V, Wohlhuter-Haddad A, Epaud R, Fanen P, Tarze A.

Br J Pharmacol. 2016 Jun;173(11):1728-41. doi: 10.1111/bph.13464. Epub 2016 Apr 21.

17.

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Hinzpeter A, de Becdelièvre A, Bieth E, Gameiro C, Brémont F, Martin N, Costes B, Costa C, Aissat A, Lorot A, Prulière-Escabasse V, Goossens M, Fanen P, Girodon E.

Hum Mutat. 2014 Jul;35(7):805-8. doi: 10.1002/humu.22548. Epub 2014 Apr 9.

18.

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.

Fanen P, Wohlhuter-Haddad A, Hinzpeter A.

Int J Biochem Cell Biol. 2014 Jul;52:94-102. doi: 10.1016/j.biocel.2014.02.023. Epub 2014 Mar 12. Review.

19.

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A.

Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17. No abstract available.

20.

COMMD1 modulates noxious inflammation in cystic fibrosis.

de Becdelièvre A, Rocca J, Aissat A, Drévillon L, Moutereau S, Le Gouvello S, Hinzpeter A, Tarze A, Fanen P.

Int J Biochem Cell Biol. 2013 Nov;45(11):2402-9. doi: 10.1016/j.biocel.2013.07.012. Epub 2013 Jul 24.

PMID:
23892095

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