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Page 1
Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis.
Kharoubi M, Bézard M, Broussier A, Galat A, Gounot R, Poullot E, Molinier-Frenkel V, Fanen P, Funalot B, Itti E, Lemonnier F, Sing Chadha GD, Guendouz S, Mallet S, Zaroui A, Audard V, Audureau E, Le Corvoisier P, Hittinger L, Planté Bordeneuve V, Lefaucheur JP, Amiot A, Bequignon E, Bartier S, Leroy V, Teiger E, Oghina S, Damy T. Kharoubi M, et al. Among authors: funalot b. Front Cardiovasc Med. 2023 Mar 14;10:1124660. doi: 10.3389/fcvm.2023.1124660. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 36998975 Free PMC article.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis.
Bézard M, Kharoubi M, Galat A, Le Bras F, Poullot E, Molinier-Frenkel V, Fanen P, Funalot B, Moktefi A, Abulizi M, Deux JF, Lemonnier F, Guendouz S, Chalard C, Zaroui A, Itti E, Hittinger L, Teiger E, Oghina S, Damy T. Bézard M, et al. Among authors: funalot b. Mayo Clin Proc. 2023 Jan;98(1):48-59. doi: 10.1016/j.mayocp.2022.08.016. Epub 2022 Dec 2. Mayo Clin Proc. 2023. PMID: 36464537
Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Dang J, Ferlicot S, Misrahi M, Mussini C, Kounis I, Rémy P, Samuel D, Planté-Bordeneuve V, Adams D, Funalot B, Snanoudj R, Damy T, Moktefi A, Audard V, Zaidan M. Dang J, et al. Among authors: funalot b. Nephrol Dial Transplant. 2023 Aug 31;38(9):2019-2030. doi: 10.1093/ndt/gfad006. Nephrol Dial Transplant. 2023. PMID: 36646436
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: funalot b. 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: funalot b. Amyloid. 2023 Dec;30(4):407-415. doi: 10.1080/13506129.2023.2227322. Epub 2023 Jun 28. Amyloid. 2023. PMID: 37377439
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: funalot b. 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 Free article.
Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathy.
Volpentesta E, Kharoubi M, Donadio C, Rebiai K, Fanen P, Funalot B, Gendre T, Audard V, Canoui-Poitrine F, Itti E, Teiger E, Planté-Bordeneuve V, Oghina S, Tixier D, Mallet S, Broussier A, Damy T, Zaroui A. Volpentesta E, et al. Among authors: funalot b. ESC Heart Fail. 2024 Dec;11(6):3814-3832. doi: 10.1002/ehf2.14793. Epub 2024 Jul 17. ESC Heart Fail. 2024. PMID: 39021317 Free PMC article.
The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy.
Hagège A, Puscas T, El Hachmi M, Parodi A, Bacher A, Funalot B, Wahbi K, Jeunemaître X, Damy T, Billon C; GEREMY Working Group of the French Society of Cardiology. Hagège A, et al. Among authors: funalot b. Int J Cardiol. 2024 Dec 15;417:132542. doi: 10.1016/j.ijcard.2024.132542. Epub 2024 Sep 10. Int J Cardiol. 2024. PMID: 39260623 Free article.
Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Hebrard B, Babonneau ML, Charron P, Consolino E, Dauriat B, Dupin-Deguine D, Fargeaud D, Farrugia A, Giguet-Valard AG, Guijarro D, Inamo J, Jeanneteau J, Mazzella JM, Michon CC, Millat G, Mouquet F, Oghina S, Pereon Y, Poinsignon V, Pompougnac J, Proukhnitzky J, Schaefer E, Sturtz F, Trosdorf M, Auguste A, Canali G, Combes A, Funalot B, Damy T. Hebrard B, et al. Among authors: funalot b. Orphanet J Rare Dis. 2024 Oct 29;19(1):403. doi: 10.1186/s13023-024-03370-z. Orphanet J Rare Dis. 2024. PMID: 39472905 Free PMC article.
116 results