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Year Number of Results
2009 1
2010 1
2011 3
2016 2
2017 2
2018 2
2019 1
2020 1
2021 3
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15 results
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Page 1
A novel MED12 mutation: Evidence for a fourth phenotype.
Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G. Prontera P, et al. Among authors: mencarelli a. Am J Med Genet A. 2016 Sep;170(9):2377-82. doi: 10.1002/ajmg.a.37805. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312080 Review.
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Prontera P, Rogaia D, Sallicandro E, Mencarelli A, Imperatore V, Squeo GM, Merla G, Elisei S, Moretti-Ferreira D, Esposito S, Stangoni G. Prontera P, et al. Among authors: mencarelli a. Eur J Hum Genet. 2019 Aug;27(8):1260-1266. doi: 10.1038/s41431-019-0385-6. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936464 Free PMC article.
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.
Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G. Prontera P, et al. Among authors: mencarelli a. Int J Mol Sci. 2017 Sep 17;18(9):1998. doi: 10.3390/ijms18091998. Int J Mol Sci. 2017. PMID: 28926972 Free PMC article. Review.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, Sadikovic B, Prontera P. Rooney K, et al. Among authors: mencarelli a. Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611. Int J Mol Sci. 2021. PMID: 34445317 Free PMC article.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P. Tedesco MG, et al. Among authors: mencarelli a. Am J Med Genet A. 2021 Apr;185(4):1204-1210. doi: 10.1002/ajmg.a.62068. Epub 2021 Jan 14. Am J Med Genet A. 2021. PMID: 33442900
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