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Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S; FREX consortium; Boileau C, Crestani B, Dieudé P. Juge PA, et al. Among authors: desvignes jp. Eur Respir J. 2017 May 11;49(5):1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May. Eur Respir J. 2017. PMID: 28495692 Free article.
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: desvignes jp. 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.
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: desvignes jp. 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: desvignes jp. 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: desvignes jp. PLoS One. 2017 May 8;12(5):e0175998. doi: 10.1371/journal.pone.0175998. eCollection 2017. PLoS One. 2017. PMID: 28481884 Free PMC article.
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A. Elouej S, et al. Among authors: desvignes jp. Metabolism. 2017 Jun;71:213-225. doi: 10.1016/j.metabol.2017.03.011. Epub 2017 Mar 28. Metabolism. 2017. PMID: 28521875 Free article.
39 results