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Page 1
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Bellanné-Chantelot C, et al. Among authors: carausu l. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. Blood. 2018. PMID: 29914977 Free PMC article.
Substance use disorder of equimolar oxygen-nitrous oxide mixture in French sickle-cell patients: results of the PHEDRE study.
Gérardin M, Rousselet M, Couec ML, Masseau A; PHEDRE Group; Aquizerate A, Authier N, Deheul S, Roussin A, Micallef J, Djezzar S; French Addictovigilance Network (FAN); Feuillet F, Jolliet P, Grall-Bronnec M, Victorri-Vigneau C. Gérardin M, et al. Orphanet J Rare Dis. 2024 Mar 18;19(1):124. doi: 10.1186/s13023-024-03133-w. Orphanet J Rare Dis. 2024. PMID: 38500184 Free PMC article.
Second-line treatment trends and long-term outcomes of 392 children with chronic immune thrombocytopenic purpura: the French experience over the past 25 years.
Ducassou S, Gourdonneau A, Fernandes H, Leverger G, Pasquet M, Fouyssac F, Bayart S, Bertrand Y, Michel G, Jeziorski E, Thomas C, Abouchallah W, Viard F, Guitton C, Cheikh N, Pellier I, Carausu L, Droz C, Leblanc T, Aladjidi N; Centre de Référence National des Cytopénies Auto-immunes de l’Enfant (CEREVANCE). Ducassou S, et al. Among authors: carausu l. Br J Haematol. 2020 Jun;189(5):931-942. doi: 10.1111/bjh.16448. Epub 2020 Mar 4. Br J Haematol. 2020. PMID: 32130726 Free article.
Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study.
Rotulo GA, Plat G, Beaupain B, Blanche S, Moushous D, Sicre de Fontbrune F, Leblanc T, Renard C, Barlogis V, Vigue MG, Freycon C, Piguet C, Pasquet M, Fieschi C, Abou-Chahla W, Gandemer V, Rialland F, Millot F, Marie-Cardine A, Paillard C, Levy P, Aladjidi N, Biosse-Duplan M, Bellanné-Chantelot C, Donadieu J; French Severe Chronic Neutropenia Registry. Rotulo GA, et al. Br J Haematol. 2021 Sep;194(5):908-920. doi: 10.1111/bjh.17695. Epub 2021 Aug 2. Br J Haematol. 2021. PMID: 34340247 Free article.
An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years.
Alligon M, Mahlaoui N, Courteille V, Costes L, Afonso V, Randrianomenjanahary P, de Vergnes N, Ranohavimparany A, Vo D, Hafsa I, Bach P, Benoit V, Garcelon N, Fischer A; members of the CEREDIH French PID study group. Alligon M, et al. J Allergy Clin Immunol. 2022 Jun;149(6):2116-2125. doi: 10.1016/j.jaci.2021.12.790. Epub 2022 Jan 12. J Allergy Clin Immunol. 2022. PMID: 35031273
Novel Insights into Pediatric Acute Lymphoblastic Leukemia Ophthalmic Relapses from a Nationwide Cohort Study.
Le Louet S, Icart V, Strullu M, Petit A, Freycon C, Blouin P, Serre J, Rama N, Reguerre Y, Piguet C, Pasquet M, David A, Simon P, Poiree M, Carausu L, Rialland F, Abouchahla W, Saultier P, Ducassou S, Valduga J, Baruchel A, Bertrand Y, Domenech C. Le Louet S, et al. Among authors: carausu l. J Cancer. 2022 Jan 24;13(4):1272-1281. doi: 10.7150/jca.64996. eCollection 2022. J Cancer. 2022. PMID: 35281861 Free PMC article.
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: carausu l. Am J Hematol. 2023 Jun;98(6):857-868. doi: 10.1002/ajh.26900. Epub 2023 Mar 21. Am J Hematol. 2023. PMID: 36882195 Free article.
Molecular and clinicopathologic characterization of pediatric histiocytoses.
Hélias-Rodzewicz Z, Donadieu J, Terrones N, Barkaoui MA, Lambilliotte A, Moshous D, Thomas C, Azarnoush S, Pasquet M, Mansuy L, Aladjidi N, Jeziorski E, Marec-Berard P, Gilibert-Yvert M, Spiegel A, Saultier P, Pellier I, Pagnier A, Pertuisel S, Poiree M, Bodet D, Millot F, Isfan F, Stephan JL, Leruste A, Rigaud C, Filhon B, Carausu L, Reguerre Y, Kieffer I, Brichard B, Ben Jannet R, Bakari M, Idbaih A, Bodemer C, Cohen-Aubart F, Haroche J, Tazi A, Boudjemaa S, Fraitag S, Emile JF, Heritier S; French Histiocytosis Study Group. Hélias-Rodzewicz Z, et al. Among authors: carausu l. Am J Hematol. 2023 Jul;98(7):1058-1069. doi: 10.1002/ajh.26938. Epub 2023 Apr 28. Am J Hematol. 2023. PMID: 37115038 Free article.
26 results