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Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Trivellin G, Daly AF, Hernández-Ramírez LC, Araldi E, Tatsi C, Dale RK, Fridell G, Mittal A, Faucz FR, Iben JR, Li T, Vitali E, Stojilkovic SS, Kamenicky P, Villa C, Baussart B, Chittiboina P, Toro C, Gahl WA, Eugster EA, Naves LA, Jaffrain-Rea ML, de Herder WW, Neggers SJ, Petrossians P, Beckers A, Lania AG, Mains RE, Eipper BA, Stratakis CA. Trivellin G, et al. Among authors: kamenicky p. Front Endocrinol (Lausanne). 2023 Jun 14;14:1166076. doi: 10.3389/fendo.2023.1166076. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37388215 Free PMC article.
An Open-label Phase 2 Study of Eneboparatide, a Novel PTH Receptor 1 Agonist, in Hypoparathyroidism.
Takacs I, Mezosi E, Soto A, Kamenický P, Figueres L, Galvez Moreno MA, Lemoine S, Borson-Chazot F, Capel I, Ouldrouis T, Lucas N, Allas S, Sumeray M, Ovize M, Mannstadt M. Takacs I, et al. Among authors: kamenicky p. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2199-2209. doi: 10.1210/clinem/dgae121. J Clin Endocrinol Metab. 2024. PMID: 38449442 Clinical Trial.
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: kamenicky p. J Clin Endocrinol Metab. 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. J Clin Endocrinol Metab. 2023. PMID: 36321535
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.
Boros E, Ertl DA, Berkenou J, Audrain C, Lecoq AL, Kamenicky P, Briot K, Amouroux C, Zhukouskaya V, Gueorguieva I, Mignot B, Girerd B, Porquet Bordes V, Salles JP, Edouard T, Coutant R, Bacchetta J, Linglart A, Rothenbuhler A. Boros E, et al. Among authors: kamenicky p. Eur J Endocrinol. 2023 Oct 17;189(4):469-475. doi: 10.1093/ejendo/lvad144. Eur J Endocrinol. 2023. PMID: 37831782
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Trivellin G, Daly AF, Hernández-Ramírez LC, Araldi E, Tatsi C, Dale RK, Fridell G, Mittal A, Faucz FR, Iben JR, Li T, Vitali E, Stojilkovic SS, Kamenicky P, Villa C, Baussart B, Chittiboina P, Toro C, Gahl WA, Eugster EA, Naves LA, Jaffrain-Rea ML, de Herder WW, Neggers SJ, Petrossians P, Beckers A, Lania AG, Mains RE, Eipper BA, Stratakis CA. Trivellin G, et al. Among authors: kamenicky p. medRxiv [Preprint]. 2023 Jan 20:2023.01.20.23284646. doi: 10.1101/2023.01.20.23284646. medRxiv. 2023. Update in: Front Endocrinol (Lausanne). 2023 Jun 14;14:1166076. doi: 10.3389/fendo.2023.1166076 PMID: 36711613 Free PMC article. Updated. Preprint.
118 results