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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: agolini e. Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010. Am J Hum Genet. 2023. PMID: 36868207 Free PMC article. No abstract available.
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
Masnada S, Martinelli D, Correa-Vela M, Agolini E, Baide-Mairena H, Marcé-Grau A, Parazzini C, Veggiotti P, Perez-Duenas B, Tonduti D. Masnada S, et al. Among authors: agolini e. Mov Disord. 2021 Apr;36(4):1038-1040. doi: 10.1002/mds.28492. Epub 2021 Feb 19. Mov Disord. 2021. PMID: 33606314 No abstract available.
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Ciolfi A, Foroutan A, Capuano A, Pedace L, Travaglini L, Pizzi S, Andreani M, Miele E, Invernizzi F, Reale C, Panteghini C, Iascone M, Niceta M, Gavrilova RH, Schultz-Rogers L, Agolini E, Bedeschi MF, Prontera P, Garibaldi M, Galosi S, Leuzzi V, Soliveri P, Olson RJ, Zorzi GS, Garavaglia BM, Tartaglia M, Sadikovic B. Ciolfi A, et al. Among authors: agolini e. Clin Epigenetics. 2021 Aug 11;13(1):157. doi: 10.1186/s13148-021-01145-y. Clin Epigenetics. 2021. PMID: 34380541 Free PMC article.
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
Ponzi E, Gentile M, Agolini E, Matera E, Palumbi R, Buonadonna AL, Peschechera A, Gabellone A, Antonucci MF, Margari L. Ponzi E, et al. Among authors: agolini e. Mol Genet Genomic Med. 2020 Jul;8(7):e1289. doi: 10.1002/mgg3.1289. Epub 2020 May 16. Mol Genet Genomic Med. 2020. PMID: 32415730 Free PMC article. Review.
Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome.
Petruzzellis G, Valentini D, Del Bufalo F, Ceglie G, Carai A, Colafati GS, Agolini E, Diomedi-Camassei F, Corsetti T, Alessi I, Mastronuzzi A, Locatelli F, Cacchione A. Petruzzellis G, et al. Among authors: agolini e. Front Oncol. 2019 Apr 12;9:277. doi: 10.3389/fonc.2019.00277. eCollection 2019. Front Oncol. 2019. PMID: 31032231 Free PMC article.
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
Panfili FM, Valente P, Ficari A, Cortellessa F, Vecchio D, Gonfiantini MV, Buonuomo PS, Colafati GS, Agolini E, Bartuli M, Modugno AC, Macchiaiolo M. Panfili FM, et al. Among authors: agolini e. Ital J Pediatr. 2023 Aug 23;49(1):101. doi: 10.1186/s13052-023-01503-x. Ital J Pediatr. 2023. PMID: 37612758 Free PMC article.
DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.
Caroleo AM, De Ioris MA, Boccuto L, Alessi I, Del Baldo G, Cacchione A, Agolini E, Rinelli M, Serra A, Carai A, Mastronuzzi A. Caroleo AM, et al. Among authors: agolini e. Front Oncol. 2021 Jan 21;10:614541. doi: 10.3389/fonc.2020.614541. eCollection 2020. Front Oncol. 2021. PMID: 33552988 Free PMC article. Review.
122 results