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115 results

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Page 1
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: funalot b. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
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
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rötig A, Funalot B, Desguerre I. Mansour-Hendili L, et al. Among authors: funalot b. Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024. Front Genet. 2024. PMID: 38348452 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
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.
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
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 Jul 17. doi: 10.1002/ehf2.14793. Online ahead of print. ESC Heart Fail. 2024. PMID: 39021317 Free article.
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.
Corrigendum to "The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy" [International Journal of Cardiology Volume 417, 15 December 2024, 132542].
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 Nov 7;419:132692. doi: 10.1016/j.ijcard.2024.132692. Online ahead of print. Int J Cardiol. 2024. PMID: 39514999 Free article. No abstract available.
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Pacot L, Vidaud D, Ye M, Chansavang A, Coustier A, Maillard T, Barbance C, Laurendeau I, Hébrard B, Lunati-Rozie A, Funalot B, Wolkenstein P, Vidaud M, Goldenberg A, Morice-Picard F, Hadjadj D, Parfait B, Pasmant E. Pacot L, et al. Among authors: funalot b. NPJ Genom Med. 2024 Sep 8;9(1):41. doi: 10.1038/s41525-024-00425-9. NPJ Genom Med. 2024. PMID: 39245665 Free PMC article.
115 results