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Proceedings of the 14th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring.
Abramsky R, Acun C, Alt J, Aly H, Arad N, Baak LM, Bakalar D, Balasingham T, Bammler T, Benders MJNL, Benitez D, Boni E, Boylan G, Campbell E, Castri P, Chandrashekar P, Chavez-Valdez R, Chen M, Chiodin E, Comstock B, Damien J, Damien J, de Vries LS, de Vries L, Dickman J, Doucette L, Duckworth E, Duckworth E, Echeverria-Palacio C, El Jalbout R, El-Dib M, Elshibiny H, Flock D, Gallagher A, Gasperoni E, Glass H, Harteman JC, Harvey-Jones K, Hazan I, Heagerty P, Inder T, Jantzie L, Juul S, Karnati S, Kute N, Lacaille H, Lange F, Lemmers PMA, Liu W, Llaguno N, Magalhães M, Mambule I, Marandyuk B, Marks K, Martin LJ, Massaro A, Mathieson S, Mathieson S, McCaul MC, Meehan C, Meledin I, Menna E, Menzato F, Mintoft A, Mitra S, Nakimuli A, Nanyunya C, Norris G, Northington FJ, Numis A, O'Reilly JJ, Ortiz S, Padiyar S, Paquette N, Parmeggiani L, Patrizi S, Pavlidis E, Pellegrin S, Penn AA, Petitpas L, Pinchefsky E, Ponta A, Puthuraya JPS, Rais R, Robertson NJ, Rodrigues D, Salandin M, Salzbank J, Sánchez L, Schalij N, Serrano-Tabares C, Shany E, Staffler A, Steggerda S, Tachtsidis I, Tann C, Tataranno ML, Trabatti C, Tremblay J, Tromp S, Tucker K, Turnbill V, Vacher CM, van Bel F, v… See abstract for full author list ➔ Abramsky R, et al. Among authors: doucette l. J Neonatal Perinatal Med. 2023;16(s1):S33-S62. doi: 10.3233/NPM-239003. J Neonatal Perinatal Med. 2023. PMID: 37599542 No abstract available.
Proceedings of the 14th International Newborn Brain Conference: Neuroprotection strategies in the neonate.
Abdurajan S, Ågren J, Alt J, Axelin A, Bäcke P, Balashova E, Thernström Blomqvist Y, Burckhard Z, Burnsed J, Cornaz Buros S, Chavez-Valdez R, Chen M, Dickie J, Dietz R, Dingman A, Doucette L, El-Dib M, Shibiny H, Flock D, Ganal S, Gorse K, Guo J, Harrison S, Herrmann J, Ionov O, Jackson T, Janesko-Feldman K, Jantzie L, June A, Kathiresh S, Kirtbaya A, Klein A, Kochanek P, Kuter N, Marlicz M, Martin LJ, Matysik W, Munster C, Northington FJ, Quilinan N, Rais R, Schöberlein A, Sharafutdinova D, Suvorov MSI, Suvorova J, Szakmar E, Tiemeier E, Tran P, Trigo NF, Turnbill V, Ushakova L, Vagni V. Abdurajan S, et al. Among authors: doucette l. J Neonatal Perinatal Med. 2023;16(s1):S21-S31. doi: 10.3233/NPM-239002. J Neonatal Perinatal Med. 2023. PMID: 37599541 No abstract available.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Chrystal PW, Lambacher NJ, Doucette LP, Bellingham J, Schiff ER, Noel NCL, Li C, Tsiropoulou S, Casey GA, Zhai Y, Nadolski NJ, Majumder MH, Tagoe J, D'Esposito F, Cordeiro MF, Downes S, Clayton-Smith J, Ellingford J; Genomics England Research Consortium; Mahroo OA, Hocking JC, Cheetham ME, Webster AR, Jansen G, Blacque OE, Allison WT, Au PYB, MacDonald IM, Arno G, Leroux MR. Chrystal PW, et al. Among authors: doucette lp. Nat Commun. 2022 Nov 3;13(1):6595. doi: 10.1038/s41467-022-33820-w. Nat Commun. 2022. PMID: 36329026 Free PMC article.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Among authors: doucette lp. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 Free PMC article.
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
Abdelfatah N, Mostafa AA, French CR, Doucette LP, Penney C, Lucas MB, Griffin A, Booth V, Rowley C, Besaw JE, Tranebjærg L, Rendtorff ND, Hodgkinson KA, Little LA, Agrawal S, Parnes L, Batten T, Moore S, Hu P, Pater JA, Houston J, Galutira D, Benteau T, MacDonald C, French D, O'Rielly DD, Stanton SG, Young TL. Abdelfatah N, et al. Among authors: doucette lp. Hum Genet. 2022 Apr;141(3-4):965-979. doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11. Hum Genet. 2022. PMID: 34633540 Free PMC article.
39 results