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Page 1
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Among authors: paganoni a. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P, Vitobello A, Philippe C, Bizaoui V, Storr HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR, Cariboni A. Oleari R, et al. Among authors: paganoni a. Dis Model Mech. 2023 Mar 1;16(3):dmm049996. doi: 10.1242/dmm.049996. Epub 2023 Mar 28. Dis Model Mech. 2023. PMID: 36810932 Free PMC article.
A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency.
Oleari R, André V, Lettieri A, Tahir S, Roth L, Paganoni A, Eberini I, Parravicini C, Scagliotti V, Cotellessa L, Bedogni F, De Martini LB, Corridori MV, Gulli S, Augustin HG, Gaston-Massuet C, Hussain K, Cariboni A. Oleari R, et al. Among authors: paganoni a. Neuroendocrinology. 2021;111(5):421-441. doi: 10.1159/000508375. Epub 2020 May 4. Neuroendocrinology. 2021. PMID: 32365351 Free article.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ; GOSgene; Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT. Whittaker DE, et al. Among authors: paganoni aj. J Clin Invest. 2021 Dec 15;131(24):e141587. doi: 10.1172/JCI141587. J Clin Invest. 2021. PMID: 34730112 Free PMC article.
SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability.
Lettieri A, Oleari R, van den Munkhof MH, van Battum EY, Verhagen MG, Tacconi C, Spreafico M, Paganoni AJJ, Azzarelli R, Andre' V, Amoruso F, Palazzolo L, Eberini I, Dunkel L, Howard SR, Fantin A, Pasterkamp RJ, Cariboni A. Lettieri A, et al. Among authors: paganoni ajj. Nat Commun. 2023 Dec 7;14(1):8097. doi: 10.1038/s41467-023-43820-z. Nat Commun. 2023. PMID: 38062045 Free PMC article.
Learning high-order interactions for polygenic risk prediction.
Massi MC, Franco NR, Manzoni A, Paganoni AM, Park HA, Hoffmeister M, Brenner H, Chang-Claude J, Ieva F, Zunino P. Massi MC, et al. Among authors: paganoni am. PLoS One. 2023 Feb 10;18(2):e0281618. doi: 10.1371/journal.pone.0281618. eCollection 2023. PLoS One. 2023. PMID: 36763605 Free PMC article.
60 results