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Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Baurand A, et al. Among authors: eicher jc. Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868338 Review.
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Delplancq G, Tarris G, Vitobello A, Nambot S, Sorlin A, Philippe C, Carmignac V, Duffourd Y, Denis C, Eicher JC, Chevarin M, Millat G, Khallouk B, Rousseau T, Falcon-Eicher S, Vasiljevic A, Harizay FT, Thauvin-Robinet C, Faivre L, Kuentz P. Delplancq G, et al. Among authors: eicher jc. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):129-135. doi: 10.1002/ajmg.c.31766. Epub 2020 Jan 22. Am J Med Genet C Semin Med Genet. 2020. PMID: 31965688
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: eicher jc. Clin Genet. 2019 Mar;95(3):356-367. doi: 10.1111/cge.13484. Epub 2018 Dec 27. Clin Genet. 2019. PMID: 30471092 Free article.
First-degree atrioventricular block and pseudopacemaker syndrome.
Laurent G, Eicher JC, Wolf JE. Laurent G, et al. Among authors: eicher jc. Arch Cardiovasc Dis. 2013 Dec;106(12):690-3. doi: 10.1016/j.acvd.2012.02.014. Epub 2012 Dec 21. Arch Cardiovasc Dis. 2013. PMID: 23791585 Free article. No abstract available.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P. Thevenon J, et al. Among authors: eicher jc. Europace. 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067. Europace. 2017. PMID: 28431061
[Purulent pericarditis in dermatopolymyositis].
Falcon-Eicher S, Eicher JC, Collet E, Dalac S, Lambert D, Portier H, David M, Wolf JE. Falcon-Eicher S, et al. Among authors: eicher jc. Ann Cardiol Angeiol (Paris). 1995 Jan;44(1):21-4. Ann Cardiol Angeiol (Paris). 1995. PMID: 7702352 Review. French.
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Millat G, et al. Among authors: eicher jc. Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624503
Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.
Nguyen K, Roche S, Donal E, Odent S, Eicher JC, Faivre L, Millat G, Salgado D, Desvignes JP, Lavoute C, Haentjens J, Consolino É, Janin A, Cerino M, Réant P, Rooryck C, Charron P, Richard P, Casalta AC, Michel N, Magdinier F, Béroud C, Lévy N, Habib G. Nguyen K, et al. Among authors: eicher jc. Circ Genom Precis Med. 2019 May;12(5):e002500. doi: 10.1161/CIRCGEN.119.002500. Circ Genom Precis Med. 2019. PMID: 31112424 Free article. No abstract available.
124 results