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Page 1
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Duncan AR, et al. Among authors: agolini e. Am J Hum Genet. 2020 Dec 3;107(6):1170-1177. doi: 10.1016/j.ajhg.2020.11.001. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232677 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.
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.
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Radio FC, Di Meglio L, Agolini E, Bellacchio E, Rinelli M, Toscano P, Boldrini R, Novelli A, Di Meglio A, Dallapiccola B. Radio FC, et al. Among authors: agolini e. Mol Genet Genomic Med. 2018 May;6(3):446-451. doi: 10.1002/mgg3.376. Epub 2018 Mar 3. Mol Genet Genomic Med. 2018. PMID: 29500860 Free PMC article.
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: agolini e. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626
128 results