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1,794 results

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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: romano c. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.
Ito H, Shiwaku H, Yoshida C, Homma H, Luo H, Chen X, Fujita K, Musante L, Fischer U, Frints SG, Romano C, Ikeuchi Y, Shimamura T, Imoto S, Miyano S, Muramatsu SI, Kawauchi T, Hoshino M, Sudol M, Arumughan A, Wanker EE, Rich T, Schwartz C, Matsuzaki F, Bonni A, Kalscheuer VM, Okazawa H. Ito H, et al. Among authors: romano c. Mol Psychiatry. 2015 Apr;20(4):459-71. doi: 10.1038/mp.2014.69. Epub 2014 Jul 29. Mol Psychiatry. 2015. PMID: 25070536 Free PMC article.
A Fast-Binding, Functionally Reversible, COX-2 Radiotracer for CNS PET Imaging.
Placzek MS, Wilton DK, Weïwer M, Manter MA, Reid SE, Meyer CJ, Campbell AJ, Bajrami B, Bigot A, Bricault S, Fayet A, Frouin A, Gergits F, Gupta M, Jiang W, Melanson M, Romano CD, Riley MM, Wang JM, Wey HY, Wagner FF, Stevens B, Hooker JM. Placzek MS, et al. Among authors: romano cd. ACS Cent Sci. 2024 Apr 25;10(5):1105-1114. doi: 10.1021/acscentsci.3c01564. eCollection 2024 May 22. ACS Cent Sci. 2024. PMID: 38799654 Free PMC article.
Remote-Use Applications of the ALSFRS-R Clinical Outcome Assessment Tool: A Scoping Review.
Bhushan NL, Romano CD, Gras-Najjar J, Reno J, Rockwood N, Quattrone W, Adams ET, Kelly B, McLeod L, Bhavnani SP, Bocell FD, Campbell M, Kontson K, Reasner D, Zhang C, Retzky S. Bhushan NL, et al. Among authors: romano cd. Value Health. 2024 May 23:S1098-3015(24)02365-9. doi: 10.1016/j.jval.2024.05.005. Online ahead of print. Value Health. 2024. PMID: 38795957 Review.
Helicobacter pylori infection found during upper endoscopy performed for the diagnosis of celiac, inflammatory bowel diseases, and eosinophilic esophagitis: A multicenter pediatric European study.
Kotilea K, Romano C, Miele E, Kindermann A, Dolstra Y, Misak Z, Urbonas V, Sykora J, Urruzuno P, Krauthammer A, Rogalidou M, Dimakou K, Zangen T, Roma E, Zellos A, Cilleruelo ML, M'Rini M, Bontems P, Sahin Y, Tavares M, Shahinyan T, Vuletic B, Kalach N, Kori M; ESPGHAN H. pylori special interest group. Kotilea K, et al. Among authors: romano c. Helicobacter. 2024 May-Jun;29(3):e13092. doi: 10.1111/hel.13092. Helicobacter. 2024. PMID: 38790089
Another potential zoonotic threat? Herpes B virus in the spotlight.
Branda F, Ciccozzi A, Giovanetti M, Romano C, Ciccozzi M, Scarpa F. Branda F, et al. Among authors: romano c. New Microbes New Infect. 2024 May 7;60-61:101422. doi: 10.1016/j.nmni.2024.101422. eCollection 2024 Aug-Oct. New Microbes New Infect. 2024. PMID: 38765002 Free PMC article. No abstract available.
Efficacy and safety of a new low-volume PEG with citrate and simethicone bowel preparation for pediatric elective colonoscopy: Phase 3 RCT.
Russo G, Alvisi P, Romano C, Angelino G, Lemale J, Lachaux A, Lionetti P, Veereman G, Ruggiero C, Padovani M, Tacchi R, Cenci F, Cucchiara S, Oliva S. Russo G, et al. Among authors: romano c. Endosc Int Open. 2024 Apr 26;12(4):E629-E638. doi: 10.1055/a-2251-3372. eCollection 2024 Apr. Endosc Int Open. 2024. PMID: 38681144 Free PMC article.
1,794 results