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[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].
Rucheton B, Ader F, Goudenege D, Filaut S, Legrand L, Bloch A, MitoDiag R, Fressart V, Bonnefont-Rousselot D, Mochel F, Lamari F, Richard P, Procaccio V, Bannwarth S. Rucheton B, et al. Among authors: ader f. Ann Biol Clin (Paris). 2021 Feb 1;79(1):28-40. doi: 10.1684/abc.2021.1621. Ann Biol Clin (Paris). 2021. PMID: 33586649 Free article. French.
Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.
Richard P, Ader F, Roux M, Donal E, Eicher JC, Aoutil N, Huttin O, Selton-Suty C, Coisne D, Jondeau G, Damy T, Mansencal N, Casalta AC, Michel N, Haentjens J, Faivre L, Lavoute C, Nguyen K, Tregouët DA, Habib G, Charron P. Richard P, et al. Among authors: ader f. Clin Genet. 2019 Mar;95(3):356-367. doi: 10.1111/cge.13484. Epub 2018 Dec 27. Clin Genet. 2019. PMID: 30471092 Free article.
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Bordet C, Brice S, Maupain C, Gandjbakhch E, Isidor B, Palmyre A, Moerman A, Toutain A, Akloul L, Brehin AC, Sawka C, Rooryck-Thambo C, Schaefer E, Nguyen K, Dupin Deguine D, Rouzier C, Billy G, Séné K, Denjoy I, Leheup B, Planes M, Mazzella JM, Staraci S, Hebert M, Le Boette E, Michon CC, Babonneau ML, Curjol A, Bekhechi A, Mansouri R, Raji I, Pruny JF, Fressart V, Ader F, Richard P, Tezenas du Montcel S, Gargiulo M, Charron P. Bordet C, et al. Among authors: ader f. J Clin Med. 2020 May 6;9(5):1365. doi: 10.3390/jcm9051365. J Clin Med. 2020. PMID: 32384747 Free PMC article.
Saw-Tooth Cardiomyopathy: Clinical Presentation and Genetic Analysis.
Proukhnitzky J, Garot J, Bordet C, Legrand L, Ader F, Richard P, Charron P. Proukhnitzky J, et al. Among authors: ader f. JACC Case Rep. 2020 Jul 15;2(8):1205-1209. doi: 10.1016/j.jaccas.2020.05.072. eCollection 2020 Jul. JACC Case Rep. 2020. PMID: 34317449 Free PMC article.
295 results