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Page 1
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Boussion S, Escande F, Jourdain AS, Smol T, Brunelle P, Duhamel C, Alembik Y, Attié-Bitach T, Baujat G, Bazin A, Bonnière M, Carassou P, Carles D, Devisme L, Goizet C, Goldenberg A, Grotto S, Guichet A, Jouk PS, Loeuillet L, Mechler C, Michot C, Pelluard F, Putoux A, Whalen S, Ghoumid J, Manouvrier-Hanu S, Petit F. Boussion S, et al. Among authors: duhamel c. Hum Mutat. 2020 Jul;41(7):1220-1225. doi: 10.1002/humu.24021. Epub 2020 Apr 6. Hum Mutat. 2020. PMID: 32227665
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Morel G, Duhamel C, Boussion S, Frénois F, Lesca G, Chatron N, Labalme A, Sanlaville D, Edery P, Thevenon J, Faivre L, Fassier A, Prodhomme O, Escande F, Manouvrier S, Petit F, Geneviève D, Rossi M. Morel G, et al. Among authors: duhamel c. Hum Mutat. 2020 Sep;41(9):1499-1506. doi: 10.1002/humu.24070. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32598510
Incidence, prevalence and clinical presentation of inflammatory bowel diseases in Northern France: a 30-year population-based study.
Sarter H, Crétin T, Savoye G, Fumery M, Leroyer A, Dauchet L, Paupard T, Coevoet H, Wils P, Richard N, Turck D, Ley D, Gower-Rousseau C; EPIMAD study Group. Sarter H, et al. Lancet Reg Health Eur. 2024 Oct 18;47:101097. doi: 10.1016/j.lanepe.2024.101097. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39478988 Free PMC article.
IRF4 impedes human CD8 T cell function and promotes cell proliferation and PD-1 expression.
Hirsch T, Neyens D, Duhamel C, Bayard A, Vanhaver C, Luyckx M, Sala de Oyanguren F, Wildmann C, Dauguet N, Squifflet JL, Montiel V, Deschamps M, van der Bruggen P. Hirsch T, et al. Among authors: duhamel c. Cell Rep. 2024 Jul 23;43(7):114401. doi: 10.1016/j.celrep.2024.114401. Epub 2024 Jun 27. Cell Rep. 2024. PMID: 38943641 Free article.
HELIOS-expressing human CD8 T cells exhibit limited effector functions.
Neyens D, Hirsch T, Abdel Aziz Issa Abdel Hadi A, Dauguet N, Vanhaver C, Bayard A, Wildmann C, Luyckx M, Squifflet JL, D'Hondt Q, Duhamel C, Huaux A, Montiel V, Dechamps M, van der Bruggen P. Neyens D, et al. Among authors: duhamel c. Front Immunol. 2023 Dec 22;14:1308539. doi: 10.3389/fimmu.2023.1308539. eCollection 2023. Front Immunol. 2023. PMID: 38187391 Free PMC article.
69 results