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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: chevalier p. 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.
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
Delinière A, Haddad C, Herrera-Siklódy C, Hermida A, Pruvot E, Bressieux-Degueldre S, Millat G, Janin A, Hermida JS, Asatryan B, Chevalier P. Delinière A, et al. Among authors: chevalier p. Circ Genom Precis Med. 2023 Jun;16(3):280-282. doi: 10.1161/CIRCGEN.122.004010. Epub 2023 Apr 3. Circ Genom Precis Med. 2023. PMID: 37009738 No abstract available.
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A, Perouse de Montclos T, Nguyen K, Consolino E, Nadeau G, Rey G, Bouchot O, Blanchet P, Sabbagh Q, Cazeneuve C, El-Malti R, Morel E, Delinière A, Chevalier P, Millat G. Janin A, et al. Among authors: chevalier p. Mol Diagn Ther. 2022 Sep;26(5):551-560. doi: 10.1007/s40291-022-00604-3. Epub 2022 Jul 15. Mol Diagn Ther. 2022. PMID: 35838873
Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.
Janin A, Gouy E, Putoux A, Perouse-de-Monclos T, Chevalier P, Faucherre A, Mancilla Abaroa J, Jopling C, Collardeau Frachon S, Radojevic J, El Chehadeh S, Millat G. Janin A, et al. Among authors: chevalier p. Circ Genom Precis Med. 2023 Jun;16(3):277-279. doi: 10.1161/CIRCGEN.122.003881. Epub 2023 Apr 4. Circ Genom Precis Med. 2023. PMID: 37013823 Free article. No abstract available.
456 results