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Page 1
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: agolini e. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718 Free article.
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.
Cacchione A, Fabozzi F, Carai A, Colafati GS, Baldo GD, Rossi S, Diana M, Megaro G, Milano GM, Macchiaiolo M, Crocoli A, De Ioris MA, Boccuto L, Secco DE, Zama M, Agolini E, Tomà P, Mastronuzzi A. Cacchione A, et al. Among authors: agolini e. Cancer Control. 2023 Jan-Dec;30:10732748221144930. doi: 10.1177/10732748221144930. Cancer Control. 2023. PMID: 36598023 Free PMC article.
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B. Brancati F, et al. Among authors: agolini e. Am J Hum Genet. 2010 Aug 13;87(2):265-73. doi: 10.1016/j.ajhg.2010.07.003. Am J Hum Genet. 2010. PMID: 20691405 Free PMC article.
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.
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.
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.
Boni A, Ranalli M, Del Baldo G, Carta R, Lodi M, Agolini E, Rinelli M, Valentini D, Rossi S, Alesi V, Cacchione A, Miele E, Alessi I, Caroleo AM, Colafati GS, De Ioris MA, Boccuto L, Balducci M, Carai A, Mastronuzzi A. Boni A, et al. Among authors: agolini e. Diagnostics (Basel). 2021 Feb 7;11(2):254. doi: 10.3390/diagnostics11020254. Diagnostics (Basel). 2021. PMID: 33562188 Free PMC article.
Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.
Ranalli M, Boni A, Caroleo AM, Del Baldo G, Rinelli M, Agolini E, Rossi S, Miele E, Colafati GS, Boccuto L, Alessi I, De Ioris MA, Cacchione A, Capolino R, Carai A, Vennarini S, Mastronuzzi A. Ranalli M, et al. Among authors: agolini e. Diagnostics (Basel). 2021 Apr 2;11(4):647. doi: 10.3390/diagnostics11040647. Diagnostics (Basel). 2021. PMID: 33918520 Free PMC article.
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.
Carta R, Del Baldo G, Miele E, Po A, Besharat ZM, Nazio F, Colafati GS, Piccirilli E, Agolini E, Rinelli M, Lodi M, Cacchione A, Carai A, Boccuto L, Ferretti E, Locatelli F, Mastronuzzi A. Carta R, et al. Among authors: agolini e. Front Oncol. 2020 Oct 29;10:566822. doi: 10.3389/fonc.2020.566822. eCollection 2020. Front Oncol. 2020. PMID: 33194646 Free PMC article. Review.
126 results