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Page 1
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H, Jones N, Matis T, Bonneau D, Busa T, Bonnet F, Conrad S, Crivelli L, Monin P, Fert-Ferrer S, Mortemousque I, Raad S, Lacombe D, Caux F, Sevenet N, Bubien V, Longy M; French Cowden Disease Network. Margot H, et al. J Med Genet. 2024 Nov 25;61(12):1071-1079. doi: 10.1136/jmg-2024-109982. J Med Genet. 2024. PMID: 39358013
Clinical features and long-term outcomes of patients with systemic polyarteritis nodosa diagnosed since 2005: Data from 196 patients.
Rohmer J, Nguyen Y, Trefond L, Agard C, Allain JS, Berezne A, Charles P, Cohen P, Gondran G, Groh M, Huscenot T, Lacout C, Lazaro E, London J, Maurier F, Mekinian A, Mesbah R, Nubourgh I, Perard L, Puéchal X, Pugnet G, Puyade M, Queyrel V, Roux A, Rouzaud D, Durel CA, Guillevin L, Terrier B; French Vasculitis Study Group (FVSG). Rohmer J, et al. J Autoimmun. 2023 Sep;139:103093. doi: 10.1016/j.jaut.2023.103093. Epub 2023 Aug 1. J Autoimmun. 2023. PMID: 37536165
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net.
Lorenz B, Tavares J, van den Born LI, Marques JP, Pilotto E, Stingl K, Charbel Issa P, Leroux D, Dollfus H, Scholl HPN; EVICR.net study group; ERN-EYE study group. Lorenz B, et al. Among authors: leroux d. Ophthalmic Res. 2023;66(1):550-568. doi: 10.1159/000528716. Epub 2023 Jan 2. Ophthalmic Res. 2023. PMID: 36592621 Free article.
SeSAM: software for automatic construction of order-robust linkage maps.
Vidal A, Gauthier F, Rodrigez W, Guiglielmoni N, Leroux D, Chevrolier N, Jasson S, Tourrette E, Martin OC, Falque M. Vidal A, et al. Among authors: leroux d. BMC Bioinformatics. 2022 Nov 19;23(1):499. doi: 10.1186/s12859-022-05045-7. BMC Bioinformatics. 2022. PMID: 36402957 Free PMC article.
Low-dose interleukin-2 therapy in active systemic lupus erythematosus (LUPIL-2): a multicentre, double-blind, randomised and placebo-controlled phase II trial.
Humrich JY, Cacoub P, Rosenzwajg M, Pitoiset F, Pham HP, Guidoux J, Leroux D, Vazquez T, Riemekasten G, Smolen JS, Tsokos G, Klatzmann D. Humrich JY, et al. Among authors: leroux d. Ann Rheum Dis. 2022 Dec;81(12):1685-1694. doi: 10.1136/ard-2022-222501. Epub 2022 Aug 16. Ann Rheum Dis. 2022. PMID: 35973803 Clinical Trial.
A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.
Jiao Y, Lesueur F, Azencott CA, Laurent M, Mebirouk N, Laborde L, Beauvallet J, Dondon MG, Eon-Marchais S, Laugé A; GEMO Study Collaborators; GENEPSO Study Collaborators; Noguès C, Andrieu N, Stoppa-Lyonnet D, Caputo SM. Jiao Y, et al. BMC Med Res Methodol. 2021 Jul 29;21(1):155. doi: 10.1186/s12874-021-01299-6. BMC Med Res Methodol. 2021. PMID: 34325649 Free PMC article.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN; OCGN Investigators; HEBON Investigators; KconFab Investigators; Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE… See abstract for full author list ➔ Lakeman IMM, et al. Genet Med. 2021 Sep;23(9):1726-1737. doi: 10.1038/s41436-021-01198-7. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113011 Free PMC article.
187 results