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Page 1
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.
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
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Le Collen L, Barraud S, Braconnier A, Coppin L, Zachar D, Boulagnon C, Deguelte S, Souchon PF, Spodenkiewicz M, Poirsier C, Aubert S, Odou MF, Delemer B. Le Collen L, et al. Among authors: souchon pf. Endocrine. 2021 Sep;73(3):693-701. doi: 10.1007/s12020-021-02756-4. Epub 2021 May 17. Endocrine. 2021. PMID: 33999366
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
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
Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.
Quentien MH, Delemer B, Papadimitriou DT, Souchon PF, Jaussaud R, Pagnier A, Munzer M, Jullien N, Reynaud R, Galon-Faure N, Enjalbert A, Barlier A, Brue T. Quentien MH, et al. Among authors: souchon pf. J Clin Endocrinol Metab. 2012 Jan;97(1):E121-8. doi: 10.1210/jc.2011-0407. Epub 2011 Oct 19. J Clin Endocrinol Metab. 2012. PMID: 22013103
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
Brue T, Quentien MH, Khetchoumian K, Bensa M, Capo-Chichi JM, Delemer B, Balsalobre A, Nassif C, Papadimitriou DT, Pagnier A, Hasselmann C, Patry L, Schwartzentruber J, Souchon PF, Takayasu S, Enjalbert A, Van Vliet G, Majewski J, Drouin J, Samuels ME. Brue T, et al. Among authors: souchon pf. BMC Med Genet. 2014 Dec 19;15:139. doi: 10.1186/s12881-014-0139-9. BMC Med Genet. 2014. PMID: 25524009 Free PMC 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.
29 results