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Inclusion of functional measures and frailty in the development and evaluation of medicines for older adults.
Denkinger M, Knol W, Cherubini A, Simonds A, Lionis C, Lacombe D, Petelos E, McCarthy M, Ouvrard P, Van Kerrebroeck P, Szymański P, Cupelli A, Laslop A, Koch A, Sepodes B, Torre C, Rönnemaa E, Bałkowiec-Iskra E, Herdeiro MT, Rosa MM, Trauffler M, Mirošević Skvrce N, Mayrhofer S, Berntgen M, Silva I, Cerreta F. Denkinger M, et al. Among authors: lacombe d. Lancet Healthy Longev. 2023 Dec;4(12):e724-e729. doi: 10.1016/S2666-7568(23)00208-8. Epub 2023 Nov 15. Lancet Healthy Longev. 2023. PMID: 37977177 Free article. Review.
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.
Mauhin W, Dzangue-Tchoupou G, Amelin D, Corneau A, Lamari F, Allenbach Y, Dussol B, Leguy-Seguin V, D'Halluin P, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O, Benveniste O. Mauhin W, et al. Among authors: lacombe d. J Inherit Metab Dis. 2024 Apr 16. doi: 10.1002/jimd.12727. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38623626
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Bessis D, Bursztejn AC, Morice-Picard F, Capri Y, Barbarot S, Aubert H, Bodet D, Bourrat E, Chiaverini C, Poujade L, Willems M, Rouanet J, Dompmartin-Blanchère A, Geneviève D, Gerard M, Ginglinger E, Hadj-Rabia S, Martin L, Mazereeuw-Hautier J, Bibas N, Molinari N, Herman F, Phan A, Rod J, Roger H, Sigaudy S, Ziegler A, Vial Y, Verloes A, Cavé H, Lacombe D. Bessis D, et al. Among authors: lacombe d. J Eur Acad Dermatol Venereol. 2024 Apr 10. doi: 10.1111/jdv.19996. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38595321
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: lacombe d. HGG Adv. 2024 Mar 29;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Online ahead of print. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
[Expand neonatal screening].
Lacombe D, Cottet C, Laugel V. Lacombe D, et al. Rev Prat. 2023 Dec;73(10):1047. Rev Prat. 2023. PMID: 38294462 French. No abstract available.
665 results