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Page 1
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.
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
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
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Giabicani E, Willems M, Steunou V, Chantot-Bastaraud S, Thibaud N, Abi Habib W, Azzi S, Lam B, Bérard L, Bony-Trifunovic H, Brachet C, Brischoux-Boucher E, Caldagues E, Coutant R, Cuvelier ML, Gelwane G, Guemas I, Houang M, Isidor B, Jeandel C, Lespinasse J, Naud-Saudreau C, Jesuran-Perelroizen M, Perrin L, Piard J, Sechter C, Souchon PF, Storey C, Thomas D, Le Bouc Y, Rossignol S, Netchine I, Brioude F. Giabicani E, et al. Among authors: souchon pf. J Med Genet. 2020 Mar;57(3):160-168. doi: 10.1136/jmedgenet-2019-106328. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586944 Free article.
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
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.
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
29 results