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New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Pyromali I, Perani A, Nizou A, Benslimane N, Derouault P, Bourthoumieu S, Fradin M, Sole G, Duval F, Gomes C, Favreau F, Sturtz F, Magdelaine C, Lia AS. Pyromali I, et al. Among authors: bourthoumieu s. Comput Struct Biotechnol J. 2021 Jul 30;19:4265-4272. doi: 10.1016/j.csbj.2021.07.037. eCollection 2021. Comput Struct Biotechnol J. 2021. PMID: 34429846 Free PMC article.
Involvement of the enteroendocrine system in intestinal obstruction.
Ballouhey Q, Richard L, Fourcade L, Ben Rhaiem I, Vallat JM, Sturtz F, Bourthoumieu S. Ballouhey Q, et al. Among authors: bourthoumieu s. PLoS One. 2017 Nov 1;12(11):e0186507. doi: 10.1371/journal.pone.0186507. eCollection 2017. PLoS One. 2017. PMID: 29091949 Free PMC article.
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: bourthoumieu s. 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.
Epithelial changes of congenital intestinal obstruction in a rat model.
Ballouhey Q, Fourcade L, Richard L, Bellet C, El Hamel C, Vallat JM, Sturtz F, Bourthoumieu S. Ballouhey Q, et al. Among authors: bourthoumieu s. PLoS One. 2020 Apr 30;15(4):e0232023. doi: 10.1371/journal.pone.0232023. eCollection 2020. PLoS One. 2020. PMID: 32352981 Free PMC article.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Lafontaine M, Lia AS, Bourthoumieu S, Beauvais-Dzugan H, Derouault P, Arné-Bes MC, Sarret C, Laffargue F, Magot A, Sturtz F, Magy L, Magdelaine C. Lafontaine M, et al. Among authors: bourthoumieu s. Ann Clin Transl Neurol. 2021 Feb;8(2):471-476. doi: 10.1002/acn3.51175. Epub 2021 Jan 6. Ann Clin Transl Neurol. 2021. PMID: 33405357 Free PMC article.
Severe Phenotype in Patients with Large Deletions of NF1.
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: bourthoumieu s. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963. Cancers (Basel). 2021. PMID: 34199217 Free PMC article.
48 results