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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A. 2021 Nov;185(11):3446-3458. doi: 10.1002/ajmg.a.62465. Epub 2021 Aug 26.
Am J Med Genet A. 2021.
PMID: 34436830
Free article.
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: tedesco mg.
Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611.
Int J Mol Sci. 2021.
PMID: 34445317
Free PMC article.
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A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, Tedesco MG, Rogaia D, Mencarelli A, Di Cara G, Verrotti A, Troiani S, Merla G, Tartaglia M, Prontera P.
Flex E, et al. Among authors: tedesco mg.
Genes (Basel). 2021 Sep 12;12(9):1406. doi: 10.3390/genes12091406.
Genes (Basel). 2021.
PMID: 34573388
Free PMC article.
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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.
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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