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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.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Cordeddu V, et al. Among authors: bruselles a. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3. Hum Mutat. 2015. PMID: 26173643 Free PMC article.
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. Giorgio E, et al. Among authors: bruselles a. Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25. Am J Med Genet A. 2016. PMID: 27108886 Free article.
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A. Giorgio E, et al. Among authors: bruselles a. Eur J Paediatr Neurol. 2017 May;21(3):475-484. doi: 10.1016/j.ejpn.2016.12.005. Epub 2016 Dec 19. Eur J Paediatr Neurol. 2017. PMID: 28027854 Free article.
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E. D'Amico A, et al. Among authors: bruselles a. Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22. Eur J Paediatr Neurol. 2017. PMID: 28760337
70 results