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Page 1
An ontological foundation for ocular phenotypes and rare eye diseases.
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group. Sergouniotis PI, et al. Among authors: leroux d. Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6. Orphanet J Rare Dis. 2019. PMID: 30626441 Free PMC article.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Among authors: leroux d. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. Köhler S, et al. Among authors: leroux d. Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105. Nucleic Acids Res. 2019. PMID: 30476213 Free PMC article.
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.
187 results