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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Sabeh P, et al. Among authors: guerrini r. Am J Hum Genet. 2024 Dec 24:S0002-9297(24)00418-X. doi: 10.1016/j.ajhg.2024.11.009. Online ahead of print. Am J Hum Genet. 2024. PMID: 39721588
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Clatot J, Thompson CH, Sotardi S, Jiang J, Trivisano M, Balestrini S, Ward DI, Ginn N, Guaragni B, Malerba L, Vakrinou A, Sherer M, Helbig I, Somarowthu A, Sisodiya SM, Ben-Shalom R, Guerrini R, Specchio N, George AL Jr, Goldberg EM. Clatot J, et al. Among authors: guerrini r. Epilepsia. 2024 Dec 21. doi: 10.1111/epi.18234. Online ahead of print. Epilepsia. 2024. PMID: 39707911
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. Among authors: guerrini r. J Med Genet. 2024 Dec 22:jmg-2024-110328. doi: 10.1136/jmg-2024-110328. Online ahead of print. J Med Genet. 2024. PMID: 39613335 Free article.
Enhanced anticancer effect of thymidylate synthase dimer disrupters by promoting intracellular accumulation.
Marverti G, Moschella MG, Belardo A, Lamesta M, Mercanile G, Tagliazucchi L, Aiello D, Venturelli A, Illuminati D, Guerrini R, Losi L, Ponterini G, Costi MP, D'Arca D. Marverti G, et al. Among authors: guerrini r. Front Pharmacol. 2024 Nov 11;15:1477318. doi: 10.3389/fphar.2024.1477318. eCollection 2024. Front Pharmacol. 2024. PMID: 39611169 Free PMC article.
Home-based, computer-assisted cognitive rehabilitation for attention in pediatric onset multiple sclerosis: a randomized, multicenter pilot study.
Masciulli C, Portaccio E, Goretti B, Niccolai C, Simone M, Viterbo RG, Zaffaroni M, Pippolo L, Cocco E, Fenu G, Carta E, Falautano M, Celico C, Pardini M, Mancardi GL, Guerrini R, Melani F, Giovannelli F, Rocca M, Iaffaldano P, Tacchino A, Zaratin P, Filippi M, Amato MP. Masciulli C, et al. Among authors: guerrini r. Neurol Sci. 2024 Nov 25. doi: 10.1007/s10072-024-07886-x. Online ahead of print. Neurol Sci. 2024. PMID: 39581901
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
TBC1D24-Related Disorders.
Balestrini S, Campeau PM, Mei D, Guerrini R, Sisodiya S. Balestrini S, et al. Among authors: guerrini r. 2015 Feb 26 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Feb 26 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25719194 Free Books & Documents. Review.
1,107 results