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Page 1
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.
Rimbert A, Duval D, Trujillano D, Kyndt F, Jobbe-Duval A, Lindenbaum P, Tucker N, Lecointe S, Labbé P, Toquet C, Karakachoff M, Roussel JC, Baufreton C, Bruneval P, Cueff C, Donal E, Redon R, Olaso R, Boland A, Deleuze JF; FranceGenRef Consortium; Estivill X, Slaugenhaupt S, Markwald RR, Norris RA, Verhoye JP, Probst V, Hagège A, Levine R, Jeunemaitre X, Marec HL, Capoulade R, Bouatia-Naji N, Dina C, Milan D, Ossowski S, Schott JJ, Mérot J, Scouarnec SL, Tourneau TL. Rimbert A, et al. Among authors: jeunemaitre x. medRxiv [Preprint]. 2024 Oct 17:2024.10.16.24315096. doi: 10.1101/2024.10.16.24315096. medRxiv. 2024. PMID: 39484266 Free PMC article. Preprint.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M. Billon C, et al. Among authors: jeunemaitre x. Mol Genet Genomics. 2024 Apr 16;299(1):44. doi: 10.1007/s00438-024-02136-3. Mol Genet Genomics. 2024. PMID: 38625590
Target population for a selective cardiac myosin inhibitor in hypertrophic obstructive cardiomyopathy: Real-life estimation from the French register of hypertrophic cardiomyopathy (REMY).
Parodi A, Puscas T, Réant P, Donal E, M'Barek Raboudi D, Billon C, Bacher A, El Hachmi M, Wahbi K, Jeunemaître X, Hagège A; REMY Working Group of the French Society of Cardiology. Parodi A, et al. Among authors: jeunemaitre x. Arch Cardiovasc Dis. 2024 Jun-Jul;117(6-7):427-432. doi: 10.1016/j.acvd.2024.04.001. Epub 2024 May 7. Arch Cardiovasc Dis. 2024. PMID: 38762345 Free article.
Prediction of Positive Genetic Testing for Arrhythmogenic Left Ventricular Cardiomyopathy.
Ed Demri Y, Billon C, El Hachmi M, Dembélé M, Hagège A, Richard P, Ader F, Khraiche D, Bonnet D, Jeunemaitre X, Wahbi K. Ed Demri Y, et al. Among authors: jeunemaitre x. Circ Genom Precis Med. 2024 Aug;17(4):e004612. doi: 10.1161/CIRCGEN.124.004612. Epub 2024 Jul 29. Circ Genom Precis Med. 2024. PMID: 39069921 No abstract available.
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: jeunemaitre x. 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.
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: jeunemaitre x. 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.
L-Wnk1 Deletion in Smooth Muscle Cells Causes Aortitis and Inflammatory Shift.
Quelquejay H, Al-Rifai R, Silvestro M, Vandestienne M, Ferreira I, Mirault T, Henrion D, Zhong X, Santos-Zas I, Goudot G, Alayrac P, Robidel E, Autret G, Balvay D, Taleb S, Tedgui A, Boulanger CM, Zernecke A, Saliba AE, Hadchouel J, Ramkhelawon B, Cochain C, Bergaya S, Jeunemaitre X, Ait-Oufella H. Quelquejay H, et al. Among authors: jeunemaitre x. Circ Res. 2024 Aug 2;135(4):488-502. doi: 10.1161/CIRCRESAHA.124.324366. Epub 2024 Jul 9. Circ Res. 2024. PMID: 38979610 Free article.
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.
Viora-Dupont E, Denommé-Pichon A, Chevarin M, Patat O, Willems M, Bourgon N, Bruel A, Aubert-Mucca M, Galinier M, Itier R, Decramer S, Piton A, Gerard B, Billon C, Jeunemaitre X, Duffourd Y, Callier P, Thauvin C, Philippe C, Faivre L, Albuisson J, Vitobello A. Viora-Dupont E, et al. Among authors: jeunemaitre x. Am J Med Genet A. 2023 Nov;191(11):2728-2735. doi: 10.1002/ajmg.a.63394. Epub 2023 Sep 12. Am J Med Genet A. 2023. PMID: 37698238
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
Tessler I, Albuisson J, Piñeiro-Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero-Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S, Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R. Tessler I, et al. Among authors: jeunemaitre x. JAMA Cardiol. 2023 Aug 1;8(8):721-731. doi: 10.1001/jamacardio.2023.1469. JAMA Cardiol. 2023. PMID: 37405741 Free PMC article.
379 results