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Year Number of Results
2002 3
2004 6
2005 4
2007 1
2008 2
2009 1
2010 1
2011 2
2012 2
2013 4
2014 3
2016 2
2017 6
2018 2
2019 4
2020 6
2021 12
2022 12
2023 10
2024 1

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73 results

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Page 1
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. Claustres M, et al. Among authors: fanen p. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
Antibodies for CFTR studies.
Mendes F, Farinha CM, Roxo-Rosa M, Fanen P, Edelman A, Dormer R, McPherson M, Davidson H, Puchelle E, De Jonge H, Heda GD, Gentzsch M, Lukacs G, Penque D, Amaral MD. Mendes F, et al. Among authors: fanen p. J Cyst Fibros. 2004 Aug;3 Suppl 2:69-72. doi: 10.1016/j.jcf.2004.05.016. J Cyst Fibros. 2004. PMID: 15463931 Free article. Review.
Structure-Based Understanding of ABCA3 Variants.
Onnée M, Fanen P, Callebaut I, de Becdelièvre A. Onnée M, et al. Among authors: fanen p. Int J Mol Sci. 2021 Sep 24;22(19):10282. doi: 10.3390/ijms221910282. Int J Mol Sci. 2021. PMID: 34638622 Free PMC article.
Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Damy T, Zaroui A, de Tournemire M, Kharoubi M, Gounot R, Galat A, Guendouz S, Funalot B, Itti E, Roulin L, Audard V, Fanen P, Leroy V, Poulot E, Belhadj K, Mallet S, Deep Singh Chadah G, Planté-Bordeneuve V, Gendre T, Chevalier X, Guignard S, Bequignon E, Bartier S, Folliguet T, Lemonier F, Audureau E, Tixier D, Canoui-Poitrine F, Lefaucheur JP, Souvannanorath S, Authier FJ, Maupou S, Hittinger L, Molinier-Frenkel V, David JP, Broussier A, Oghina S, Teiger E. Damy T, et al. Among authors: fanen p. Arch Cardiovasc Dis. 2023 Oct;116(10):433-446. doi: 10.1016/j.acvd.2023.07.003. Epub 2023 Aug 18. Arch Cardiovasc Dis. 2023. PMID: 37640624
A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis.
Planté-Bordeneuve V, Gorram F, Olsson M, Anan I, Mazzeo A, Gentile L, Cisneros-Barroso E, Gonzalez-Moreno J, Losada I, Waddington-Cruz M, Pinto LF, Parman Y, Fanen P, Alarcon F, Nuel G. Planté-Bordeneuve V, et al. Among authors: fanen p. Amyloid. 2023 Sep;30(3):313-320. doi: 10.1080/13506129.2023.2178891. Epub 2023 Feb 21. Amyloid. 2023. PMID: 36994840
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Lunati-Rozie A, Janin A, Faubert E, Nony S, Renoux C, Carcao MD, Fanen P, Funalot B, Mansour-Hendili L, Joly P. Lunati-Rozie A, et al. Among authors: fanen p. Br J Haematol. 2023 May;201(4):e46-e49. doi: 10.1111/bjh.18760. Epub 2023 Mar 16. Br J Haematol. 2023. PMID: 36928866 No abstract available.
Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
Albenque G, Bézard M, Kharoubi M, Odouard S, Lunati A, Poullot E, Zaroui A, Teiger E, Hittinger L, Audard V, El Karoui K, Funalot B, Fanen P, Damy T, Oghina S. Albenque G, et al. Among authors: fanen p. Amyloid. 2023 Dec;30(4):407-415. doi: 10.1080/13506129.2023.2227322. Epub 2023 Jun 28. Amyloid. 2023. PMID: 37377439
73 results