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Page 1
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Among authors: agolini e. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.
SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome.
Caroleo AM, Rotulo S, Agolini E, Macchiaiolo M, Boccuto L, Antonelli M, Colafati GS, Cacchione A, Megaro G, Carai A, De Ioris MA, Lodi M, Tornesello A, Simone V, Torroni F, Cinalli G, Mastronuzzi A. Caroleo AM, et al. Among authors: agolini e. Front Mol Neurosci. 2023 Aug 24;16:1228389. doi: 10.3389/fnmol.2023.1228389. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37692099 Free PMC article. Review.
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. Among authors: agolini e. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
A nationwide genetic testing survey in Italy, year 2007.
Dallapiccola B, Torrente I, Agolini E, Morena A, Mingarelli R. Dallapiccola B, et al. Among authors: agolini e. Genet Test Mol Biomarkers. 2010 Feb;14(1):17-22. doi: 10.1089/gtmb.2009.0097. Genet Test Mol Biomarkers. 2010. PMID: 19929427
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.
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.
126 results