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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: de siati rd. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
Paquay S, Wiame E, Deggouj N, Boschi A, De Siati RD, Sznajer Y, Nassogne MC. Paquay S, et al. Among authors: de siati rd. Int J Pediatr Otorhinolaryngol. 2018 Jan;104:191-194. doi: 10.1016/j.ijporl.2017.11.022. Epub 2017 Nov 22. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29287866
Changes of spatial and temporal characteristics of dynamic postural control in children with typical neurodevelopment with age: Results of a multicenter pediatric study.
Goulème N, Debue M, Spruyt K, Vanderveken C, De Siati RD, Ortega-Solis J, Petrossi J, Wiener-Vacher S, Bucci MP, Ionescu E, Thai-Van H, Deggouj N. Goulème N, et al. Among authors: de siati rd. Int J Pediatr Otorhinolaryngol. 2018 Oct;113:272-280. doi: 10.1016/j.ijporl.2018.08.005. Epub 2018 Aug 9. Int J Pediatr Otorhinolaryngol. 2018. PMID: 30174000
Tinnitus following COVID-19 vaccination: report of three cases.
Parrino D, Frosolini A, Gallo C, De Siati RD, Spinato G, de Filippis C. Parrino D, et al. Among authors: de siati rd. Int J Audiol. 2022 Jun;61(6):526-529. doi: 10.1080/14992027.2021.1931969. Epub 2021 Jun 13. Int J Audiol. 2022. PMID: 34120553
International registry of otolaryngologist-head and neck surgeons with COVID-19.
Sowerby LJ, Stephenson K, Dickie A, Lella FAD, Jefferson N, North H, De Siati RD, Maunsell R, Herzog M, Nandhan R, Trozzi M, Dehgani-Mobaraki P, Melkane A, Callejas C, Miljeteig H, Smit D, Reynoso DD, Moura JE, Hermansson A, Peer S, Burnell L, Fakhry N, Chiesa-Estomba C, Önerci Çelebi Ö, Karpischenko S, Sobol S, Sargi Z, Patel ZM. Sowerby LJ, et al. Among authors: de siati rd. Int Forum Allergy Rhinol. 2020 Nov;10(11):1201-1208. doi: 10.1002/alr.22677. Epub 2020 Aug 24. Int Forum Allergy Rhinol. 2020. PMID: 32735062
Young Otolaryngologists of International Federation of Oto-rhino-laryngological Societies (YO-IFOS) committees.
Ayad T, Stephenson K, A L Smit D, Ben-Ari O, Késmárszky R, Lechien JR, Sobol S, Meller C, Sargi Z, Maunsell R, De Siati RD, Jia H, Krishnan V, North H, Eter EG, Metwaly O, Peer S, Teissier N, Sowerby L, Hong P, Fakhry N. Ayad T, et al. Among authors: de siati rd. Eur Ann Otorhinolaryngol Head Neck Dis. 2018 Sep;135(5S):S61-S65. doi: 10.1016/j.anorl.2018.08.004. Epub 2018 Aug 31. Eur Ann Otorhinolaryngol Head Neck Dis. 2018. PMID: 30174261 Free article. No abstract available.
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Schütz M, Scimemi P, Majumder P, De Siati RD, Crispino G, Rodriguez L, Bortolozzi M, Santarelli R, Seydel A, Sonntag S, Ingham N, Steel KP, Willecke K, Mammano F. Schütz M, et al. Among authors: de siati rd. Hum Mol Genet. 2010 Dec 15;19(24):4759-73. doi: 10.1093/hmg/ddq402. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858605 Free PMC article.
The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.
Bortolozzi M, Brini M, Parkinson N, Crispino G, Scimemi P, De Siati RD, Di Leva F, Parker A, Ortolano S, Arslan E, Brown SD, Carafoli E, Mammano F. Bortolozzi M, et al. Among authors: de siati rd. J Biol Chem. 2010 Nov 26;285(48):37693-703. doi: 10.1074/jbc.M110.170092. Epub 2010 Sep 8. J Biol Chem. 2010. PMID: 20826782 Free PMC article.