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Did you mean alessandro bruxelles (284 results)?
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: bruselles a. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C, Trajkova S, Pavinato L, Cardaropoli S, Pullano V, Ferrero E, Sukarova-Angelovska E, Carestiato S, Salmin P, Rinninella A, Battaglia A, Bertoli L, Fadda A, Palermo F, Carli D, Mussa A, Dimartino P, Bruselles A, Froukh T, Mandrile G, Pasini B, De Rubeis S, Buxbaum JD, Pippucci T, Tartaglia M, Rossato M, Delledonne M, Ferrero GB, Brusco A. Giovenino C, et al. Among authors: bruselles a. Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6. Eur J Hum Genet. 2023. PMID: 36879111
Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study.
Bucalo A, Conti G, Valentini V, Capalbo C, Bruselles A, Tartaglia M, Bonanni B, Calistri D, Coppa A, Cortesi L, Giannini G, Gismondi V, Manoukian S, Manzella L, Montagna M, Peterlongo P, Radice P, Russo A, Tibiletti MG, Turchetti D, Viel A, Zanna I, Palli D, Silvestri V, Ottini L. Bucalo A, et al. Among authors: bruselles a. Eur J Cancer. 2023 Jul;188:183-191. doi: 10.1016/j.ejca.2023.04.022. Epub 2023 May 2. Eur J Cancer. 2023. PMID: 37262986 Free article.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: bruselles a. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: bruselles a. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Leoni C, et al. Among authors: bruselles a. Am J Med Genet A. 2021 Oct;185(10):3153-3160. doi: 10.1002/ajmg.a.62399. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159694
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Chiriaco M, Ursu GM, Amodio D, Cotugno N, Volpi S, Berardinelli F, Pizzi S, Cifaldi C, Zoccolillo M, Prigione I, Di Cesare S, Giancotta C, Anastasio E, Rivalta B, Pacillo L, Zangari P, Fiocchi AG, Diociaiuti A, Bruselles A, Pantaleoni F, Ciolfi A, D'Oria V, Palumbo G, Gattorno M, El Hachem M, de Villartay JP, Finocchi A, Palma P, Rossi P, Tartaglia M, Aiuti A, Antoccia A, Di Matteo G, Cancrini C. Chiriaco M, et al. Among authors: bruselles a. Front Immunol. 2022 Jul 29;13:919237. doi: 10.3389/fimmu.2022.919237. eCollection 2022. Front Immunol. 2022. PMID: 35967303 Free PMC article.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Among authors: bruselles a. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
61 results