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Page 1
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Among authors: dupin deguine d. Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294. Int J Mol Sci. 2021. PMID: 34948090 Free PMC article. Clinical Trial.
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: dupin deguine d. Circ Genom Precis Med. 2024 Feb;17(1):e004285. doi: 10.1161/CIRCGEN.123.004285. Epub 2023 Dec 7. Circ Genom Precis Med. 2024. PMID: 38059363 Free article.
Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Hermida A, Jedraszak G, Ader F, Denjoy I, Fressart V, Maury P, Beyls C, Bloch A, Clerici G, Daire E, Defaye P, Dupin-Deguine D, Garçon L, Klug D, Ginglinger E, Hermida JS, Jesel L, Khraiche D, Kubala M, Lacotte J, Laredo M, Leenhardt A, Le Guillou X, Lesaffre F, Maltret A, Magnin-Poull I, Marijon E, Nambot S, Neyroud N, Ninni S, Palmyre A, Pasquie JL, Proukhnitzky J, Reant P, Richard P, Rollin A, Rooryck C, Sacher F, Schaefer E, Vernier A, Winum PF, Wahbi K, Waintraub X, Waldmann V, Weber S, Zouaghi A, Charron P, Extramiana F, Gandjbakhch E. Hermida A, et al. Among authors: dupin deguine d. Heart Rhythm. 2024 Aug 10:S1547-5271(24)03136-9. doi: 10.1016/j.hrthm.2024.08.018. Online ahead of print. Heart Rhythm. 2024. PMID: 39134129
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Brakta C, Tabet AC, Puel M, Pacault M, Stolzenberg MC, Goudet C, Merger M, Reumaux H, Lambert N, Alioua N, Malan V, Hanein S, Dupin-Deguine D, Treiner E, Lefèvre G, Farhat MM, Luca LE, Hureaux M, Li H, Chelloug N, Dehak R, Boussion S, Ouachée-Chardin M, Schleinitz N, Abou Chahla W, Barlogis V, Vély F, Oksenhendler E, Quartier P, Pasquet M, Suarez F, Bustamante J, Neven B, Picard C, Rieux-Laucat F, Lévy J, Rosain J. Brakta C, et al. Among authors: dupin deguine d. J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5. J Clin Immunol. 2024. PMID: 39578275
Bilateral tympanic myxoma: A CARE case report.
Gallois Y, Siegfried A, Dupin-Deguine D, Deguine O. Gallois Y, et al. Among authors: dupin deguine d. Eur Ann Otorhinolaryngol Head Neck Dis. 2023 Jan;140(1):43-45. doi: 10.1016/j.anorl.2022.10.002. Epub 2022 Nov 1. Eur Ann Otorhinolaryngol Head Neck Dis. 2023. PMID: 36333210 Free article.
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Rhamati L, Marcolla A, Guerrot AM, Lerosey Y, Goldenberg A, Serey-Gaut M, Rio M, Cormier Daire V, Baujat G, Lyonnet S, Rubinato E, Jonard L, Rondeau S, Rouillon I, Couloignier V, Jacquemont ML, Dupin Deguine D, Moutton S, Vincent M, Isidor B, Ziegler A, Marie JP, Marlin S. Rhamati L, et al. Among authors: dupin deguine d. Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111606. doi: 10.1016/j.ijporl.2023.111606. Epub 2023 Jun 11. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37336020
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: dupin deguine d. 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.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J. Chesneau B, et al. Among authors: dupin deguine d. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27. Clin Genet. 2022. PMID: 35170016 Free article.
25 results