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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.
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F. Fortugno P, et al. Among authors: agolini e. J Invest Dermatol. 2014 Aug;134(8):2146-2153. doi: 10.1038/jid.2014.119. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577405 Free article.
Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.
Ceglie G, Del Baldo G, Agolini E, Rinelli M, Cacchione A, Del Bufalo F, Vinci M, Carta R, Boccuto L, Miele E, Mastronuzzi A, Locatelli F, Carai A. Ceglie G, et al. Among authors: agolini e. Front Pediatr. 2020 Nov 12;8:561487. doi: 10.3389/fped.2020.561487. eCollection 2020. Front Pediatr. 2020. PMID: 33282797 Free PMC article. Review.
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
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.
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Sirmaci A, et al. Among authors: agolini e. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21. Am J Hum Genet. 2011. PMID: 21782149 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.
Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience.
Del Baldo G, Carai A, Abbas R, Cacchione A, Vinci M, Di Ruscio V, Colafati GS, Rossi S, Diomedi Camassei F, Maestro N, Temelso S, Pericoli G, De Billy E, Giovannoni I, Carboni A, Rinelli M, Agolini E, Mackay A, Jones C, Chiesa S, Balducci M, Locatelli F, Mastronuzzi A. Del Baldo G, et al. Among authors: agolini e. Ther Adv Med Oncol. 2022 Sep 6;14:17588359221113693. doi: 10.1177/17588359221113693. eCollection 2022. Ther Adv Med Oncol. 2022. PMID: 36090803 Free PMC article.
122 results