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Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A. Ferese R, et al. Among authors: dallapiccola b. Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30. Hum Mutat. 2018. PMID: 30007050
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: dallapiccola b. Am J Med Genet. 1992 Mar 1;42(5):733-5. doi: 10.1002/ajmg.1320420522. Am J Med Genet. 1992. PMID: 1632449
[Trisomy 18 associated with atrioventricular canal].
Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. G Ital Cardiol. 1991 Apr;21(4):433-5. G Ital Cardiol. 1991. PMID: 1936748 Italian.
Turner's syndrome with atrioventricular canal.
Marino B, Digilio MC, Papa M, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: dallapiccola b. Pediatr Cardiol. 1991 Oct;12(4):245-6. doi: 10.1007/BF02310577. Pediatr Cardiol. 1991. PMID: 1946018 No abstract available.
Di George anomaly with atrioventricular canal.
Marino B, Marcelletti C, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: dallapiccola b. Chest. 1991 Jan;99(1):242-3. doi: 10.1378/chest.99.1.242. Chest. 1991. PMID: 1984965
Atrioventricular canal associated with trisomy 9.
Marino B, Digilio MC, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: dallapiccola b. Chest. 1989 Dec;96(6):1420-1. doi: 10.1378/chest.96.6.1420. Chest. 1989. PMID: 2582851
975 results