Lia AS - Search Results

1

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V. Echaniz-Laguna A, et al. Among authors: lia as. J Peripher Nerv Syst. 2023 Sep;28(3):359-367. doi: 10.1111/jns.12572. Epub 2023 Jun 18. J Peripher Nerv Syst. 2023. PMID: 37306961

2

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

3

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

Lia AS, Seznec H, Hofmann-Radvanyi H, Radvanyi F, Duros C, Saquet C, Blanche M, Junien C, Gourdon G. Lia AS, et al. Hum Mol Genet. 1998 Aug;7(8):1285-91. doi: 10.1093/hmg/7.8.1285. Hum Mol Genet. 1998. PMID: 9668171

4

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, Abitbol M, Junien C, Hofmann-Radvanyi H. Gourdon G, et al. Among authors: lia as. Nat Genet. 1997 Feb;15(2):190-2. doi: 10.1038/ng0297-190. Nat Genet. 1997. PMID: 9020847

5

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.

6

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.

7

Intriguing association between disease associated unstable trinucleotide repeat and CpG island.

Gourdon G, Dessen P, Lia AS, Junien C, Hofmann-Radvanyi H. Gourdon G, et al. Among authors: lia as. Ann Genet. 1997;40(2):73-7. Ann Genet. 1997. PMID: 9259953

8

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.

9

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

10

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. Viollet LM, et al. Among authors: lia as. Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. Eur J Med Genet. 2020. PMID: 32947049

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