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The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Luca M, Piglionica M, Bagnulo R, Cardaropoli S, Carli D, Turchiano A, Coppo P, Pantaleo A, Iacoviello M, Ferrero GB, Mussa A, Resta N. Luca M, et al. Among authors: carli d. Genes Chromosomes Cancer. 2023 Dec;62(12):703-709. doi: 10.1002/gcc.23188. Epub 2023 Jul 3. Genes Chromosomes Cancer. 2023. PMID: 37395289
Constitutional bone impairment in Noonan syndrome.
Baldassarre G, Mussa A, Carli D, Molinatto C, Ferrero GB. Baldassarre G, et al. Among authors: carli d. Am J Med Genet A. 2017 Mar;173(3):692-698. doi: 10.1002/ajmg.a.38086. Am J Med Genet A. 2017. PMID: 28211980
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.
Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, Carli D, Peris C, Riccio A, Ferrero GB. Mussa A, et al. Among authors: carli d. Pediatrics. 2017 Jul;140(1):e20164311. doi: 10.1542/peds.2016-4311. Epub 2017 Jun 20. Pediatrics. 2017. PMID: 28634246
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Valente FM, Sparago A, Freschi A, Hill-Harfe K, Maas SM, Frints SGM, Alders M, Pignata L, Franzese M, Angelini C, Carli D, Mussa A, Gazzin A, Gabbarini F, Acurzio B, Ferrero GB, Bliek J, Williams CA, Riccio A, Cerrato F. Valente FM, et al. Among authors: carli d. Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12. Genet Med. 2019. PMID: 30635621 Free PMC article.
115 results