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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: bloch a. 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.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Ader F, Jedraszak G, Janin A, Billon C, Buisson NR, Bloch A, Bensalah M, De Sandre-Giovannoli A, Goudal A, Marsili L, Cazeneuve C, Charron P, Millat G, Richard P; Cardiogen French Network of Molecular Biologists. Ader F, et al. Among authors: bloch a. Clin Genet. 2024 Feb 14. doi: 10.1111/cge.14505. Online ahead of print. Clin Genet. 2024. PMID: 38356193
Type 3 long QT syndrome: Is the effectiveness of treatment with beta-blockers population-specific?
Hermida A, Gourraud JB, Denjoy I, Fressart V, Kyndt F, Maltret A, Khraiche D, Klug D, Mabo P, Sacher F, Maury P, Winum P, Defaye P, Clerici G, Babuty D, Elbez Y, Morgat C, Surget E, Messali A, De Jode P, Clédel A, Minois D, Maison-Blanche P, Bloch A, Leenhardt A, Probst V, Extramiana F. Hermida A, et al. Among authors: bloch a. Heart Rhythm. 2024 Mar;21(3):313-320. doi: 10.1016/j.hrthm.2023.11.007. Epub 2023 Nov 11. Heart Rhythm. 2024. PMID: 37956775
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: bloch a. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
Pierron L, Irrmann A, de Chalus A, Bloch A, Heide S, Rogers E, Lédée N, Prat-Ellenberg L, Coussement A, Dupont JM, Cassuto NG, Siffroi JP, Rouen A. Pierron L, et al. Among authors: bloch a. J Assist Reprod Genet. 2019 May;36(5):973-978. doi: 10.1007/s10815-019-01430-z. Epub 2019 Mar 8. J Assist Reprod Genet. 2019. PMID: 30850901 Free PMC article.
Molecular genetic screening after non-ischaemic sudden cardiac arrest and no overt cardiomyopathy in real life: A major tool for the aetiological diagnostic work-up.
Weizman O, Gandjbakhch E, Magnin-Poull I, Proukhnitzky J, Bordet C, Palmyre A, Bloch A, Fressart V, Charron P. Weizman O, et al. Among authors: bloch a. Arch Cardiovasc Dis. 2024 Apr 15:S1875-2136(24)00051-2. doi: 10.1016/j.acvd.2024.02.005. Online ahead of print. Arch Cardiovasc Dis. 2024. PMID: 38670870
509 results