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Page 1
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.
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 Apr 23. doi: 10.1002/ajh.27337. Online ahead of print. Am J Hematol. 2024. PMID: 38651646
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.
Real-world experience with CLAIRYG® 50 mg/mL (intravenous immunoglobulin) in children under 12 years with primary immunodeficiency or immmune thrombocytopenia: a post-approval safety study.
Mahlaoui N, Fouyssac F, Mazingue F, Mallebranche C, Barthez-Toullec M, Denti L, Ruhier K, André-Bonnet MH, Marie-Cardine A, Aladjidi N, Stephan JL. Mahlaoui N, et al. Among authors: mallebranche c. Front Pediatr. 2023 Oct 2;11:1260296. doi: 10.3389/fped.2023.1260296. eCollection 2023. Front Pediatr. 2023. PMID: 37849499 Free PMC article.
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
Impact of age at diagnosis, sex, and immunopathological manifestations in 886 patients with pediatric chronic immune thrombocytopenia.
Pincez T, Fernandes H, Pasquet M, Abou Chahla W, Granel J, Héritier S, Fahd M, Ducassou S, Thomas C, Garnier N, Barlogis V, Jeziorski E, Bayart S, Chastagner P, Cheikh N, Guitton C, Paillard C, Lejeune J, Millot F, Li-Thiao Te V, Mallebranche C, Pellier I, Neven B, Armari-Alla C, Carausu L, Piguet C, Benadiba J, Pluchart C, Stephan JL, Deparis M, Briandet C, Doré E, Marie-Cardine A, Leblanc T, Leverger G, Aladjidi N. Pincez T, et al. Among authors: mallebranche c. Am J Hematol. 2023 Jun;98(6):857-868. doi: 10.1002/ajh.26900. Epub 2023 Mar 21. Am J Hematol. 2023. PMID: 36882195
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.
18 results