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Page 1
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A. Méaux MN, et al. Among authors: d anella p. J Clin Endocrinol Metab. 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. J Clin Endocrinol Metab. 2023. PMID: 36321535
MEN1 disease occurring before 21 years old: a 160-patient cohort study from the Groupe d'étude des Tumeurs Endocrines.
Goudet P, Dalac A, Le Bras M, Cardot-Bauters C, Niccoli P, Lévy-Bohbot N, du Boullay H, Bertagna X, Ruszniewski P, Borson-Chazot F, Vergès B, Sadoul JL, Ménégaux F, Tabarin A, Kühn JM, d'Anella P, Chabre O, Christin-Maitre S, Cadiot G, Binquet C, Delemer B. Goudet P, et al. Among authors: d anella p. J Clin Endocrinol Metab. 2015 Apr;100(4):1568-77. doi: 10.1210/jc.2014-3659. Epub 2015 Jan 16. J Clin Endocrinol Metab. 2015. PMID: 25594862
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Donadille B, D'Anella P, Auclair M, Uhrhammer N, Sorel M, Grigorescu R, Ouzounian S, Cambonie G, Boulot P, Laforêt P, Carbonne B, Christin-Maitre S, Bignon YJ, Vigouroux C. Donadille B, et al. Among authors: d anella p. Orphanet J Rare Dis. 2013 Jul 12;8:106. doi: 10.1186/1750-1172-8-106. Orphanet J Rare Dis. 2013. PMID: 23849162 Free PMC article.