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Page 1
Mutations and variants of ONECUT1 in diabetes.
Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A. Philippi A, et al. Among authors: besse c. Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. Epub 2021 Oct 18. Nat Med. 2021. PMID: 34663987 Free PMC article.
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C. Dos Santos RS, et al. Among authors: besse c. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10. Diabetes. 2017. PMID: 28073829
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.
Mobuchon L, Battistella A, Bardel C, Scelo G, Renoud A, Houy A, Cassoux N, Milder M, Cancel-Tassin G, Cussenot O, Delattre O, Besse C, Boland A, Deleuze JF, Cox DG, Stern MH. Mobuchon L, et al. Among authors: besse c. NPJ Genom Med. 2017;2:5. doi: 10.1038/s41525-017-0008-5. Epub 2017 Mar 10. NPJ Genom Med. 2017. PMID: 28781888 Free PMC article.
A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.
Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Trégouët DA; GenMed Consortium. Labrouche-Colomer S, et al. Among authors: besse c. Clin Sci (Lond). 2020 May 29;134(10):1181-1190. doi: 10.1042/CS20200403. Clin Sci (Lond). 2020. PMID: 32426810 Free article.
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grün… See abstract for full author list ➔ de Rojas I, et al. Nat Commun. 2021 Jun 7;12(1):3417. doi: 10.1038/s41467-021-22491-8. Nat Commun. 2021. PMID: 34099642 Free PMC article.
Papuan mitochondrial genomes and the settlement of Sahul.
Pedro N, Brucato N, Fernandes V, André M, Saag L, Pomat W, Besse C, Boland A, Deleuze JF, Clarkson C, Sudoyo H, Metspalu M, Stoneking M, Cox MP, Leavesley M, Pereira L, Ricaut FX. Pedro N, et al. Among authors: besse c. J Hum Genet. 2020 Oct;65(10):875-887. doi: 10.1038/s10038-020-0781-3. Epub 2020 Jun 1. J Hum Genet. 2020. PMID: 32483274 Free PMC article.
Prediction of Breast Cancer Treatment-Induced Fatigue by Machine Learning Using Genome-Wide Association Data.
Lee S, Deasy JO, Oh JH, Di Meglio A, Dumas A, Menvielle G, Charles C, Boyault S, Rousseau M, Besse C, Thomas E, Boland A, Cottu P, Tredan O, Levy C, Martin AL, Everhard S, Ganz PA, Partridge AH, Michiels S, Deleuze JF, Andre F, Vaz-Luis I. Lee S, et al. Among authors: besse c. JNCI Cancer Spectr. 2020 May 11;4(5):pkaa039. doi: 10.1093/jncics/pkaa039. eCollection 2020 Oct. JNCI Cancer Spectr. 2020. PMID: 33490863 Free PMC article.
125 results