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Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.
Cambiaso P, Galassi S, Palmiero M, Mastronuzzi A, Del Bufalo F, Capolino R, Cacchione A, Buonuomo PS, Gonfiantini MV, Bartuli A, Cappa M, Macchiaiolo M. Cambiaso P, et al. Among authors: capolino r. Am J Med Genet A. 2017 Sep;173(9):2353-2358. doi: 10.1002/ajmg.a.38308. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631895
Spinal ependymoma in a patient with Kabuki syndrome: a case report.
Roma D, Palma P, Capolino R, Figà-Talamanca L, Diomedi-Camassei F, Lepri FR, Digilio MC, Marras CE, Messina R, Carai A, Randi F, Mastronuzzi A. Roma D, et al. Among authors: capolino r. BMC Med Genet. 2015 Sep 5;16:80. doi: 10.1186/s12881-015-0228-4. BMC Med Genet. 2015. PMID: 26341229 Free PMC article.
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.
Radio FC, Digilio MC, Capolino R, Dentici ML, Unolt M, Alesi V, Novelli A, Marino B, Dallapiccola B. Radio FC, et al. Among authors: capolino r. Am J Med Genet A. 2016 Mar;170(3):661-4. doi: 10.1002/ajmg.a.37503. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686844
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: capolino r. Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884922
68 results