Lévy N - Search Results

1

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.

Salgado D, Desvignes JP, Rai G, Blanchard A, Miltgen M, Pinard A, Lévy N, Collod-Béroud G, Béroud C. Salgado D, et al. Among authors: levy n. Hum Mutat. 2016 May;37(5):439-46. doi: 10.1002/humu.22965. Epub 2016 Feb 22. Hum Mutat. 2016. PMID: 26842889 Free PMC article.

2

Identification of splicing defects caused by mutations in the dysferlin gene.

Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M. Kergourlay V, et al. Among authors: levy n. Hum Mutat. 2014 Dec;35(12):1532-41. doi: 10.1002/humu.22710. Hum Mutat. 2014. PMID: 25312915

3

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N. Nguyen K, et al. Among authors: levy n. Hum Mutat. 2005 Aug;26(2):165. doi: 10.1002/humu.9355. Hum Mutat. 2005. PMID: 16010686

4

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. Blandin G, et al. Among authors: levy n. Hum Mutat. 2012 Mar;33(3):E2317-31. doi: 10.1002/humu.22015. Epub 2011 Dec 29. Hum Mutat. 2012. PMID: 22213072

5

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M. Lacoste C, et al. Among authors: levy n. J Genet. 2016 Mar;95(1):203-8. doi: 10.1007/s12041-016-0619-0. J Genet. 2016. PMID: 27019452 No abstract available.

6

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A. Jallades L, et al. Among authors: levy n. Haematologica. 2017 Oct;102(10):1758-1766. doi: 10.3324/haematol.2016.160192. Epub 2017 Jul 27. Haematologica. 2017. PMID: 28751561 Free PMC article.

7

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N; THES clinical consortium; Fabre A, Badens C. Bourgeois P, et al. Among authors: levy n. Hum Mutat. 2018 Jun;39(6):774-789. doi: 10.1002/humu.23418. Epub 2018 Mar 25. Hum Mutat. 2018. PMID: 29527791 Review.

8

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

Auguste Y, Delague V, Desvignes JP, Longepied G, Gnisci A, Besnier P, Levy N, Beroud C, Megarbane A, Metzler-Guillemain C, Mitchell MJ. Auguste Y, et al. Among authors: levy n. Am J Hum Genet. 2018 Sep 6;103(3):413-420. doi: 10.1016/j.ajhg.2018.07.013. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122541 Free PMC article.

9

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N. Bacquet J, et al. Among authors: levy n. BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632. BMJ Open. 2018. PMID: 30373780 Free PMC article.

10

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Romanet P, Odou MF, North MO, Saveanu A, Coppin L, Pasmant E, Mohamed A, Goudet P, Borson-Chazot F, Calender A, Béroud C, Lévy N, Giraud S, Barlier A. Romanet P, et al. Among authors: levy n. Hum Mutat. 2019 Jun;40(6):661-674. doi: 10.1002/humu.23746. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30869828

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