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Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Marey I, Fressart V, Rambaud C, Fornes P, Martin L, Grotto S, Alembik Y, Gorka H, Millat G, Gandjbakhch E, Bordet C, de la Grandmaison GL, Richard P, Charron P. Marey I, et al. Among authors: rambaud c. Open Med (Wars). 2020 May 19;15(1):435-446. doi: 10.1515/med-2020-0150. eCollection 2020. Open Med (Wars). 2020. PMID: 33336002 Free PMC article.
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P. Ader F, et al. Among authors: rambaud c. Clin Genet. 2019 Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18. Clin Genet. 2019. PMID: 31245841
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Guimier A, Gordon CT, Godard F, Ravenscroft G, Oufadem M, Vasnier C, Rambaud C, Nitschke P, Bole-Feysot C, Masson C, Dauger S, Longman C, Laing NG, Kugener B, Bonnet D, Bouvagnet P, Di Filippo S, Probst V, Redon R, Charron P, Rötig A, Lyonnet S, Dautant A, de Pontual L, di Rago JP, Delahodde A, Amiel J. Guimier A, et al. Among authors: rambaud c. Am J Hum Genet. 2016 Sep 1;99(3):666-673. doi: 10.1016/j.ajhg.2016.06.021. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523598 Free PMC article.
Infant deaths in slings.
Madre C, Rambaud C, Avran D, Michot C, Sachs P, Dauger S. Madre C, et al. Among authors: rambaud c. Eur J Pediatr. 2014 Dec;173(12):1659-61. doi: 10.1007/s00431-013-2238-6. Epub 2013 Dec 18. Eur J Pediatr. 2014. PMID: 24343674
Fatal rhabdomyolysis in 2 children with LPIN1 mutations.
Bergounioux J, Brassier A, Rambaud C, Bustarret O, Michot C, Hubert L, Arnoux JB, Laquerriere A, Bekri S, Galene-Gromez S, Bonnet D, Hubert P, de Lonlay P. Bergounioux J, et al. Among authors: rambaud c. J Pediatr. 2012 Jun;160(6):1052-4. doi: 10.1016/j.jpeds.2012.02.033. Epub 2012 Apr 4. J Pediatr. 2012. PMID: 22480698
Sudden deaths in adult-worn baby carriers: 19 cases.
Bergounioux J, Madre C, Crucis-Armengaud A, Briand-Huchet E, Michard-Lenoir AP, Patural H, Dauger S, Renolleau S, Teychéne AM, Henry S, Biarent D, Robin C, Werner E, Rambaud C. Bergounioux J, et al. Among authors: rambaud c. Eur J Pediatr. 2015 Dec;174(12):1665-70. doi: 10.1007/s00431-015-2593-6. Epub 2015 Jul 15. Eur J Pediatr. 2015. PMID: 26174105
140 results