Lia AS - Search Results

1

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

Chautard R, Laroche-Raynaud C, Lia AS, Chazelas P, Derouault P, Sturtz F, Baaj Y, Veauville-Merllié A, Acquaviva C, Favreau F, Faye PA. Chautard R, et al. Among authors: lia as. BMC Med Genomics. 2020 Jan 29;13(1):12. doi: 10.1186/s12920-020-0665-6. BMC Med Genomics. 2020. PMID: 31996215 Free PMC article.

2

New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation.

Faye PA, Vedrenne N, De la Cruz-Morcillo MA, Barrot CC, Richard L, Bourthoumieu S, Sturtz F, Funalot B, Lia AS, Battu S. Faye PA, et al. Among authors: lia as. Anal Chem. 2016 Jul 5;88(13):6696-702. doi: 10.1021/acs.analchem.6b00704. Epub 2016 Jun 21. Anal Chem. 2016. PMID: 27263863

3

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS. Lerat J, et al. Among authors: lia as. J Peripher Nerv Syst. 2017 Jun;22(2):77-84. doi: 10.1111/jns.12216. J Peripher Nerv Syst. 2017. PMID: 28448692 Review.

4

Normal serum protein electrophoresis and mutated IGHV genes detect very slowly evolving chronic lymphocytic leukemia patients.

Chauzeix J, Laforêt MP, Deveza M, Crowther L, Marcellaud E, Derouault P, Lia AS, Boyer F, Bargues N, Olombel G, Jaccard A, Feuillard J, Gachard N, Rizzo D. Chauzeix J, et al. Among authors: lia as. Cancer Med. 2018 Jun;7(6):2621-2628. doi: 10.1002/cam4.1510. Epub 2018 May 9. Cancer Med. 2018. PMID: 29745034 Free PMC article.

5

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

Lerat J, Magdelaine C, Beauvais-Dzugan H, Espil C, Ghorab K, Latour P, Derouault P, Sturtz F, Lia AS. Lerat J, et al. Among authors: lia as. J Peripher Nerv Syst. 2019 Mar;24(1):139-144. doi: 10.1111/jns.12310. Epub 2019 Feb 26. J Peripher Nerv Syst. 2019. PMID: 30734407

6

Focus on 1,25-Dihydroxyvitamin D3 in the Peripheral Nervous System.

Faye PA, Poumeaud F, Miressi F, Lia AS, Demiot C, Magy L, Favreau F, Sturtz FG. Faye PA, et al. Among authors: lia as. Front Neurosci. 2019 Apr 12;13:348. doi: 10.3389/fnins.2019.00348. eCollection 2019. Front Neurosci. 2019. PMID: 31031586 Free PMC article. Review.

7

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Lerat J, Magdelaine C, Derouault P, Beauvais-Dzugan H, Bieth E, Acket B, Arne-Bes MC, Sturtz F, Lia AS. Lerat J, et al. Among authors: lia as. Mol Genet Genomic Med. 2019 Sep;7(9):e875. doi: 10.1002/mgg3.875. Epub 2019 Jul 23. Mol Genet Genomic Med. 2019. PMID: 31338985 Free PMC article.

8

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Lerat J, Magdelaine C, Roux AF, Darnaud L, Beauvais-Dzugan H, Naud S, Richard L, Derouault P, Ghorab K, Magy L, Vallat JM, Cintas P, Bieth E, Arne-Bes MC, Goizet C, Espil-Taris C, Journel H, Toutain A, Urtizberea JA, Boespflug-Tanguy O, Laffargue F, Corcia P, Pasquier L, Fradin M, Napuri S, Ciron J, Boulesteix JM, Sturtz F, Lia AS. Lerat J, et al. Among authors: lia as. Mol Genet Genomic Med. 2019 Sep;7(9):e839. doi: 10.1002/mgg3.839. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31393079 Free PMC article.

9

Analysis of CDKN2A gene alterations in recurrent and non-recurrent meningioma.

Guyot A, Duchesne M, Robert S, Lia AS, Derouault P, Scaon E, Lemnos L, Salle H, Durand K, Labrousse F. Guyot A, et al. Among authors: lia as. J Neurooncol. 2019 Dec;145(3):449-459. doi: 10.1007/s11060-019-03333-6. Epub 2019 Nov 15. J Neurooncol. 2019. PMID: 31729637

10

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.

Derouault P, Chauzeix J, Rizzo D, Miressi F, Magdelaine C, Bourthoumieu S, Durand K, Dzugan H, Feuillard J, Sturtz F, Mérillou S, Lia AS. Derouault P, et al. Among authors: lia as. PLoS Comput Biol. 2020 Feb 12;16(2):e1007503. doi: 10.1371/journal.pcbi.1007503. eCollection 2020 Feb. PLoS Comput Biol. 2020. PMID: 32049956 Free PMC article.

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