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Page 1
Biochemical screening of glucose-6-phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.
Raynor A, Jacquel B, François S, Fellahi S, Mouri N, Berquet C, Bartolucci P, Galactéros F, Conti M, Loric S, Bastard JP, Funalot B, Bahuau M, Moutereau S. Raynor A, et al. Among authors: funalot b. Br J Haematol. 2025 Jan 6. doi: 10.1111/bjh.19990. Online ahead of print. Br J Haematol. 2025. PMID: 39761661 No abstract available.
A phenotypic comparison of the Romanian and French ATTRv cohorts: Glu54Gln founder pathogenic variant vs the most common variants in Western Europe.
Neculae G, Zaroui A, Kharoubi M, Bézard M, Funalot B, Adam R, Jercan A, Badelita S, Draghici M, Stan C, Coriu D, Jurcut R, Damy T. Neculae G, et al. Among authors: funalot b. Int J Cardiol. 2025 Jan 15;419:132714. doi: 10.1016/j.ijcard.2024.132714. Epub 2024 Nov 7. Int J Cardiol. 2025. PMID: 39521178 Free article.
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. 2025 Jan 15;419:132692. doi: 10.1016/j.ijcard.2024.132692. Epub 2024 Nov 7. Int J Cardiol. 2025. PMID: 39514999 Free article. No abstract available.
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.
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.
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.
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.
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.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: funalot b. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
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
116 results