Janin A - Search Results

1

Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.

Marmontel O, Rollat-Farnier PA, Wozny AS, Charrière S, Vanhoye X, Simonet T, Chatron N, Collin-Chavagnac D, Nony S, Dumont S, Mahl M, Jacobs C, Janin A, Caussy C, Poinsot P, Tauveron I, Bardel C, Millat G, Peretti N, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: janin a. Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 33111339

2

HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

Millat G, Janin A, de Tauriac O, Roux A, Dauphin C. Millat G, et al. Among authors: janin a. Eur J Med Genet. 2015 Sep;58(9):439-42. doi: 10.1016/j.ejmg.2015.06.004. Epub 2015 Jul 21. Eur J Med Genet. 2015. PMID: 26206080

3

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. Among authors: janin a. 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

4

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, Sanlaville D, Touraine R, Millat G. Ramond F, et al. Among authors: janin a. Clin Genet. 2017 Jan;91(1):126-130. doi: 10.1111/cge.12780. Epub 2016 Apr 26. Clin Genet. 2017. PMID: 27030002

5

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Janin A, N'Guyen K, Habib G, Dauphin C, Chanavat V, Bouvagnet P, Eschalier R, Streichenberger N, Chevalier P, Millat G. Janin A, et al. Clin Genet. 2017 Dec;92(6):616-623. doi: 10.1111/cge.13043. Epub 2017 May 18. Clin Genet. 2017. PMID: 28436997

6

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Janin A, Bauer D, Ratti F, Millat G, Méjat A. Janin A, et al. Orphanet J Rare Dis. 2017 Aug 30;12(1):147. doi: 10.1186/s13023-017-0698-x. Orphanet J Rare Dis. 2017. PMID: 28854936 Free PMC article. Review.

7

Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing.

Chauveau S, Janin A, Till M, Morel E, Chevalier P, Millat G. Chauveau S, et al. Among authors: janin a. HeartRhythm Case Rep. 2017 Oct 20;3(12):574-578. doi: 10.1016/j.hrcr.2017.08.003. eCollection 2017 Dec. HeartRhythm Case Rep. 2017. PMID: 29296579 Free PMC article. No abstract available.

8

A Novel Missense Mutation p.Gly162Glu of the Gene MYL2 Involved in Hypertrophic Cardiomyopathy: A Pedigree Analysis of a Proband.

Renaudin P, Janin A, Millat G, Chevalier P. Renaudin P, et al. Among authors: janin a. Mol Diagn Ther. 2018 Apr;22(2):219-223. doi: 10.1007/s40291-018-0324-1. Mol Diagn Ther. 2018. PMID: 29549657

9

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: janin a. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815

10

Cardiac voltage-gated sodium channel mutations associated with left atrial dysfunction and stroke in children.

Moreau A, Janin A, Millat G, Chevalier P. Moreau A, et al. Among authors: janin a. Europace. 2018 Oct 1;20(10):1692-1698. doi: 10.1093/europace/euy041. Europace. 2018. PMID: 29579189

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