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Page 1
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
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: carli d. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
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.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388 Free article.
Syndromic Disorders Caused by Disturbed Human Imprinting.
Carli D, Riberi E, Ferrero GB, Mussa A. Carli D, et al. J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):1-16. doi: 10.4274/jcrpe.galenos.2019.2018.0249. Epub 2019 Apr 10. J Clin Res Pediatr Endocrinol. 2020. PMID: 30968677 Free PMC article. Review.
115 results