Chanavat V - Search Results

1

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

Schaefer E, Helms P, Marcellin L, Desprez P, Billaud P, Chanavat V, Rousson R, Millat G. Schaefer E, et al. Among authors: chanavat v. Eur J Med Genet. 2014 Mar;57(4):129-32. doi: 10.1016/j.ejmg.2014.02.015. Epub 2014 Mar 4. Eur J Med Genet. 2014. PMID: 24602869

2

Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.

Millat G, Chanavat V, Rousson R. Millat G, et al. Among authors: chanavat v. Mol Diagn Ther. 2014 Oct;18(5):533-9. doi: 10.1007/s40291-014-0099-y. Mol Diagn Ther. 2014. PMID: 24687331

3

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Millat G, Chanavat V, Rousson R. Millat G, et al. Among authors: chanavat v. Clin Chim Acta. 2014 Jun 10;433:266-71. doi: 10.1016/j.cca.2014.03.032. Epub 2014 Apr 8. Clin Chim Acta. 2014. PMID: 24721642

4

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy.

Chanavat V, Seronde MF, Bouvagnet P, Chevalier P, Rousson R, Millat G. Chanavat V, et al. Eur J Med Genet. 2012 Mar;55(3):163-6. doi: 10.1016/j.ejmg.2012.01.002. Epub 2012 Jan 21. Eur J Med Genet. 2012. PMID: 22314326

5

Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.

Millat G, Chanavat V, Rodriguez-Lafrasse C, Rousson R. Millat G, et al. Among authors: chanavat v. Clin Biochem. 2009 Apr;42(6):491-9. doi: 10.1016/j.clinbiochem.2008.10.014. Epub 2008 Nov 6. Clin Biochem. 2009. PMID: 19026623

6

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R. Millat G, et al. Among authors: chanavat v. Clin Biochem. 2009 Jun;42(9):892-8. doi: 10.1016/j.clinbiochem.2009.01.016. Epub 2009 Feb 6. Clin Biochem. 2009. PMID: 19318026

7

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

Millat G, Chanavat V, Créhalet H, Rousson R. Millat G, et al. Among authors: chanavat v. Clin Chim Acta. 2010 Dec 14;411(23-24):1983-91. doi: 10.1016/j.cca.2010.08.017. Epub 2010 Aug 26. Clin Chim Acta. 2010. PMID: 20800588

8

Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.

Millat G, Chanavat V, Créhalet H, Rousson R. Millat G, et al. Among authors: chanavat v. Clin Chim Acta. 2011 Jan 14;412(1-2):203-7. doi: 10.1016/j.cca.2010.09.013. Epub 2010 Sep 17. Clin Chim Acta. 2011. PMID: 20851114

9

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

Chanavat V, Janin A, Millat G. Chanavat V, et al. Clin Chim Acta. 2016 Jan 30;453:80-5. doi: 10.1016/j.cca.2015.12.011. Epub 2015 Dec 10. Clin Chim Acta. 2016. PMID: 26688388

10

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.

Janin A, Bessière F, Georgescu T, Chanavat V, Chevalier P, Millat G. Janin A, et al. Among authors: chanavat v. Eur J Med Genet. 2019 Jun;62(6):103527. doi: 10.1016/j.ejmg.2018.08.008. Epub 2018 Aug 22. Eur J Med Genet. 2019. PMID: 30142439

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