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Year Number of Results
2017 1
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2020 3
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2022 6
2023 8
2024 5

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Page 1
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, De Rosny C, Chatre E, Allatif O, Henry T, Venet F, Milhavet F, Boursier G, Belot A, Jamilloux Y, Merlin E, Duquesne A, Grateau G, Savey L, Jacques Maria AT, Pagnier A, Poutrel S, Lambotte O, Mallebranche C, Ardois S, Richer O, Lemelle I, Rieux-Laucat F, Bader-Meunier B, Amoura Z, Melki I, Cuisset L, Touitou I, Geyer M, Georgin-Lavialle S, Py BF. Cosson C, et al. Among authors: mallebranche c. J Exp Med. 2024 May 6;221(5):e20231200. doi: 10.1084/jem.20231200. Epub 2024 Mar 26. J Exp Med. 2024. PMID: 38530241 Free PMC article.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: mallebranche c. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.
Sokal A, Bastard P, Chappert P, Barba-Spaeth G, Fourati S, Vanderberghe A, Lagouge-Roussey P, Meyts I, Gervais A, Bouvier-Alias M, Azzaoui I, Fernández I, de la Selle A, Zhang Q, Bizien L, Pellier I, Linglart A, Rothenbuhler A, Marcoux E, Anxionnat R, Cheikh N, Léger J, Amador-Borrero B, Fouyssac F, Menut V, Goffard JC, Storey C, Demily C, Mallebranche C, Troya J, Pujol A, Zins M, Tiberghien P, Gray PE, McNaughton P, Sullivan A, Peake J, Levy R, Languille L, Rodiguez-Gallego C, Boisson B, Gallien S, Neven B, Michel M, Godeau B, Abel L, Rey FA, Weill JC, Reynaud CA, Tangye SG, Casanova JL, Mahévas M. Sokal A, et al. Among authors: mallebranche c. J Exp Med. 2023 Jan 2;220(1):e20220258. doi: 10.1084/jem.20220258. Epub 2022 Nov 7. J Exp Med. 2023. PMID: 36342455 Free PMC article.
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation.
Doye A, Chaintreuil P, Lagresle-Peyrou C, Batistic L, Marion V, Munro P, Loubatier C, Chirara R, Sorel N, Bessot B, Bronnec P, Contenti J, Courjon J, Giordanengo V, Jacquel A, Barbry P, Couralet M, Aladjidi N, Fischer A, Cavazzana M, Mallebranche C, Visvikis O, Kracker S, Moshous D, Verhoeyen E, Boyer L. Doye A, et al. Among authors: mallebranche c. J Exp Med. 2024 Oct 7;221(10):e20231562. doi: 10.1084/jem.20231562. Epub 2024 Aug 30. J Exp Med. 2024. PMID: 39212656
Pediatric refractory chronic immune thrombocytopenia: Identification, patients' characteristics, and outcome.
Pincez T, Fernandes H, Fahd M, Pasquet M, Chahla WA, Granel J, Ducassou S, Thomas C, Garnier N, Jeziorski E, Bayart S, Chastagner P, Cheikh N, Guitton C, Paillard C, Lejeune J, Millot F, Li-Thiao Te V, Mallebranche C, Pellier I, Castelle M, Armari-Alla C, Carausu L, Piguet C, Benadiba J, Pluchart C, Stephan JL, Deparis M, Briandet C, Doré E, Marie-Cardine A, Barlogis V, Leverger G, Héritier S, Aladjidi N, Leblanc T. Pincez T, et al. Among authors: mallebranche c. Am J Hematol. 2024 Jul;99(7):1269-1280. doi: 10.1002/ajh.27337. Epub 2024 Apr 23. Am J Hematol. 2024. PMID: 38651646
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F. Kauskot A, et al. Among authors: mallebranche c. J Thromb Haemost. 2023 Nov;21(11):3268-3278. doi: 10.1016/j.jtha.2023.05.007. Epub 2023 May 18. J Thromb Haemost. 2023. PMID: 37207862
Childhood pancreatic neuroendocrine neoplasms: A national experience.
Courtel T, Orbach D, Lacour B, Roumy M, Hescot S, Desandes E, Philippe-Chomette P, Sarnacki S, Irtan S, Dijoud F, Kubicek P, Brisse H, Fresneau B, Pire A, Réguerre Y, Mallebranche C. Courtel T, et al. Among authors: mallebranche c. Pediatr Blood Cancer. 2024 Aug 12:e31258. doi: 10.1002/pbc.31258. Online ahead of print. Pediatr Blood Cancer. 2024. PMID: 39135330
The French FRACTURE database: A way to improve knowledge on management of children with very rare tumors.
Mallebranche C, Reguerre Y, Fresneau B, Andre N, Berger C, Briandet C, Castex MP, Defachelles AS, Faure-Conter C, Lejeune J, Klein S, Leverger G, Marie-Cardine A, Oudot C, Freycon C, Proust S, Roumy M, Thebaud E, Verite C, Lacour B, Orbach D. Mallebranche C, et al. Pediatr Blood Cancer. 2022 Dec;69(12):e30003. doi: 10.1002/pbc.30003. Epub 2022 Sep 25. Pediatr Blood Cancer. 2022. PMID: 36156381
20 results