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Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G, Ferrigno F, Franceschini A, Dentici ML, Capolino R, Sinibaldi L, Minotti C, Micalizzi A, Alesi V, Novelli A, Baban A, Parlapiano G, Coviello D, Versacci P, Putotto C, Chinali M, Drago F, Bartuli A, Marino B, Digilio MC. Calcagni G, et al. Among authors: bartuli a. Diagnostics (Basel). 2024 Mar 11;14(6):594. doi: 10.3390/diagnostics14060594. Diagnostics (Basel). 2024. PMID: 38535015 Free PMC article.
An 8-Month-Old Infant with Persistent Stridor.
Buonuomo PS, Macchiaiolo M, Bottero S, Secinaro A, Mastrogiorgio G, Scalzone M, Rana I, Tomà P, Bartuli A. Buonuomo PS, et al. Among authors: bartuli a. Pediatr Ann. 2016 Feb;45(2):e42-3. doi: 10.3928/00904481-20160111-01. Pediatr Ann. 2016. PMID: 26878180 No abstract available.
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: bartuli a. 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
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC. Niceta M, et al. Among authors: bartuli a. Eur J Med Genet. 2019 Jun;62(6):103534. doi: 10.1016/j.ejmg.2018.09.001. Epub 2018 Sep 3. Eur J Med Genet. 2019. PMID: 30189253 Free article. Review.
Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M. Dentici ML, et al. Among authors: bartuli a. Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28. Clin Genet. 2019. PMID: 30684285 Review.
120 results