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Page 1
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.
Alesi V, Lepri FR, Dentici ML, Genovese S, Sallicandro E, Bejo K, Dallapiccola B, Capolino R, Novelli A, Digilio MC. Alesi V, et al. Among authors: digilio mc. Eur J Hum Genet. 2022 Nov;30(11):1239-1243. doi: 10.1038/s41431-022-01153-3. Epub 2022 Jul 26. Eur J Hum Genet. 2022. PMID: 35879407 Free PMC article.
Familial postaxial acrofacial dysostosis syndrome.
Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B. Giannotti A, et al. Among authors: digilio mc. J Med Genet. 1992 Oct;29(10):752. doi: 10.1136/jmg.29.10.752. J Med Genet. 1992. PMID: 1433242 Free PMC article. No abstract available.
Radiographic findings in Wiedemann-Rautenstrauch syndrome.
Obregon MG, Bergami GL, Giannotti A, Digilio MC, Virgili Q, Guadagni AM, Pompei E, Dallapiccola B. Obregon MG, et al. Among authors: digilio mc. Pediatr Radiol. 1992;22(6):474-5. doi: 10.1007/BF02013521. Pediatr Radiol. 1992. PMID: 1437383
New case of Bartsocas-Papas syndrome surviving at 20 months.
Giannotti A, Digilio MC, Standoli L, Zama M, Dallapiccola B. Giannotti A, et al. Among authors: digilio mc. Am J Med Genet. 1992 Mar 1;42(5):733-5. doi: 10.1002/ajmg.1320420522. Am J Med Genet. 1992. PMID: 1632449
Atrioventricular canal associated with trisomy 9.
Marino B, Digilio MC, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Chest. 1989 Dec;96(6):1420-1. doi: 10.1378/chest.96.6.1420. Chest. 1989. PMID: 2582851
435 results