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Page 1
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Béroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C. Rapetti-Mauss R, et al. Among authors: beroud c. Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6. Blood. 2015. PMID: 26148990 Free article.
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
Miltgen M, Blanchard A, Mathieu H, Kreisler A, Jean-Pierre-Desvignes, Salgado D, Roubertie A, Barre L, Rai G, Blanck V, Frederic M, Douay X, Mazzolenni R, Charpentier P, Gonzalez V, Destée A, Béroud C, Collod-Béroud G. Miltgen M, et al. Among authors: beroud c. Mov Disord. 2016 Aug;31(8):1251-2. doi: 10.1002/mds.26717. Epub 2016 Jul 9. Mov Disord. 2016. PMID: 27392807 Free article. No abstract available.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: beroud c. Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26. Hum Mutat. 2016. PMID: 27600092
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: beroud c. Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10. Hum Mutat. 2016. PMID: 27647783
New advances in DPYD genotype and risk of severe toxicity under capecitabine.
Etienne-Grimaldi MC, Boyer JC, Beroud C, Mbatchi L, van Kuilenburg A, Bobin-Dubigeon C, Thomas F, Chatelut E, Merlin JL, Pinguet F, Ferrand C, Meijer J, Evrard A, Llorca L, Romieu G, Follana P, Bachelot T, Chaigneau L, Pivot X, Dieras V, Largillier R, Mousseau M, Goncalves A, Roché H, Bonneterre J, Servent V, Dohollou N, Château Y, Chamorey E, Desvignes JP, Salgado D, Ferrero JM, Milano G. Etienne-Grimaldi MC, et al. Among authors: beroud c. PLoS One. 2017 May 8;12(5):e0175998. doi: 10.1371/journal.pone.0175998. eCollection 2017. PLoS One. 2017. PMID: 28481884 Free PMC article.
164 results