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Bioinactive ACTH causing glucocorticoid deficiency.
Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Deladoëy J; FORGE Canada Consortium. Samuels ME, et al. Among authors: hasselmann c. J Clin Endocrinol Metab. 2013 Feb;98(2):736-42. doi: 10.1210/jc.2012-3199. Epub 2013 Jan 4. J Clin Endocrinol Metab. 2013. PMID: 23293326
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: hasselmann c. BMC Med Genet. 2014 Dec 19;15:139. doi: 10.1186/s12881-014-0139-9. BMC Med Genet. 2014. PMID: 25524009 Free PMC article.
Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study.
Deal C, Hasselmann C, Pfäffle RW, Zimmermann AG, Quigley CA, Child CJ, Shavrikova EP, Cutler GB Jr, Blum WF. Deal C, et al. Among authors: hasselmann c. Horm Res Paediatr. 2013;79(5):283-92. doi: 10.1159/000350829. Epub 2013 May 16. Horm Res Paediatr. 2013. PMID: 23689058 Clinical Trial.
Frey Syndrome.
Blanc S, Bourrier T, Boralevi F, Sabouraud-Leclerc D, Pham-Thi N, Couderc L, Deschildre A, Dutau G, Albertini M, Tran A, Giovannini-Chami L; Frey Syndrome Collaborators. Blanc S, et al. J Pediatr. 2016 Jul;174:211-217.e2. doi: 10.1016/j.jpeds.2016.03.070. Epub 2016 May 2. J Pediatr. 2016. PMID: 27157448
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. 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
77 results