Výsledky vyhledávání - "Hélène Dzugan"

Akademický článek

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

Autor: Paco Derouault, Jasmine Chauzeix, David Rizzo, Federica Miressi, Corinne Magdelaine, Sylvie Bourthoumieu, Karine Durand, Hélène Dzugan, Jean Feuillard, Franck Sturtz, Stéphane Mérillou, Anne-Sophie Lia

Publikováno v: PLoS Computational Biology, Vol 16, Iss 2, p e1007503 (2020)

Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amp

Externí odkaz: https://doaj.org/article/196a64756fb242848aa22825f1024252

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

Autor: David Rizzo, Jean Feuillard, Jasmine Chauzeix, Anne-Sophie Lia, Corinne Magdelaine, Federica Miressi, Karine Durand, Paco Derouault, Franck Sturtz, Stéphane Mérillou, Hélène Dzugan, Sylvie Bourthoumieu

Publikováno v: PLoS Computational Biology, Vol 16, Iss 2, p e1007503 (2020)
PLoS Computational Biology
PLoS Computational Biology, Public Library of Science, 2020, 16 (2), pp.e1007503. ⟨10.1371/journal.pcbi.1007503⟩
PLoS Computational Biology, 2020, 16 (2), pp.e1007503. ⟨10.1371/journal.pcbi.1007503⟩

International audience; Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b77fb7ba27855838e65fe12c8cf2e5b1
https://doaj.org/article/196a64756fb242848aa22825f1024252

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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Publikováno v: Journal of the Neurological Sciences
Journal of the Neurological Sciences, Elsevier, 2019, 406, pp.116376. ⟨10.1016/j.jns.2019.06.027⟩

International audience; The autosomal recessive demyelinating form of Charcot-Marie-Tooth can be due to SH3TC2 gene pathogenic variants (CMT4C, AR-CMTde-SH3TC2). We report on a series of 13 patients with AR-CMTde-SH3TC2 among a French cohort of 350 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192e7e21780912b14daea17b1f1171fa
https://pubmed.ncbi.nlm.nih.gov/31634715

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Logistic regression model of the clinical response to 5-fluorouracil based chemotherapy for metastatic colorectal cancer patients

Autor: Hélène, Rabinovitch-Chable, Karine, Durand, Dominique, Genet, Benoît, Marin, Hélène, Dzugan, Sophie, Léobon, Nicole, Tubiana-Mathieu, Pierre-Marie, Preux, François, Paraf, Jeanne, Cook-Moreau, Franck G, Sturtz

Publikováno v: Anticancer research. 26(5B)

Several genes have been involved in drug resistance but none are currently used in the drug decision process. To address this problem, mRNA levels were measured for the 5-fluorouracil metabolism-related genes, thymidylate synthase, thymidine phosphor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::01e015043b286201a2d8089349d68e69
https://pubmed.ncbi.nlm.nih.gov/17094418

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A quantitative RT-PCR method to determine topoisomerase I mRNA levels in human tissue samples

Autor: Nicole Tubiana-Mathieu, Franck Sturtz, Sophie Leobon, Jeanne Cook-Moreau, D Genet, Stéphane Charret, Hélène Rabinovitch-Chable, Karine Durand-Faucher, Karine Aubry, Hélène Dzugan, Michel Rigaud

Publikováno v: Clinical chemistry and laboratory medicine. 43(7)

DNA topoisomerase I (Topo I) is involved in DNA replication, transcription, recombination and repair. Clinical interest has focused on Topo I as it is the molecular target of camptothecin (CPT), used in first and second lines of treatment for differe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92f238efb8335d0b8e71bd7418d47cf1
https://pubmed.ncbi.nlm.nih.gov/16207129

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