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Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group. Busiah K, et al. Among authors: souchon pf. Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Lancet Diabetes Endocrinol. 2013. PMID: 24622368
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, Badreddine A, Derhourhi M, Mouhoub TA, Jouret G, Juttet P, Souchon PF, Vaxillaire M, Froguel P, Bonnefond A, Doco Fenzy M. Le Collen L, et al. Among authors: souchon pf. Orphanet J Rare Dis. 2022 Feb 28;17(1):86. doi: 10.1186/s13023-022-02248-2. Orphanet J Rare Dis. 2022. PMID: 35227307 Free PMC article.
Lessons from prospective longitudinal follow-up of a French APECED cohort.
Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wémeau JL, Vantyghem MC. Humbert L, et al. Among authors: souchon pf. J Clin Endocrinol Metab. 2024 Apr 12:dgae211. doi: 10.1210/clinem/dgae211. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38605470 Free article.
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Dard R, Herve B, Leblanc T, de Villartay JP, Collopy L, Vulliami T, Drunat S, Gorde S, Babik A, Souchon PF, Agadr A, Abilkassem R, Elalloussi M, Verloes A, Doco-Fenzy M. Dard R, et al. Among authors: souchon pf. Pediatr Allergy Immunol. 2017 May;28(3):298-303. doi: 10.1111/pai.12694. Epub 2017 Feb 22. Pediatr Allergy Immunol. 2017. PMID: 28039949 Review. No abstract available.
Characteristics of newly diagnosed type 1 diabetes in paediatric and adult population from Reims University Hospital, France from 1997 to 2019.
Berot A, Gitton A, Diallo AM, Rahim A, Lukas C, Souchon PF, Salmon AS, François M, Ly S, Vitellius G, Decoudier B, Sulmont V, Delemer B, Barraud S. Berot A, et al. Among authors: souchon pf. Diabetes Metab. 2022 Sep;48(5):101346. doi: 10.1016/j.diabet.2022.101346. Epub 2022 Mar 23. Diabetes Metab. 2022. PMID: 35339663
Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients.
Salenave S, Ancelle D, Bahougne T, Raverot G, Kamenický P, Bouligand J, Guiochon-Mantel A, Linglart A, Souchon PF, Nicolino M, Young J, Borson-Chazot F, Delemer B, Chanson P. Salenave S, et al. Among authors: souchon pf. J Clin Endocrinol Metab. 2015 Mar;100(3):1177-86. doi: 10.1210/jc.2014-3670. Epub 2014 Dec 22. J Clin Endocrinol Metab. 2015. PMID: 25532043
29 results