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434 results

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Page 1
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: digilio mc. Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742502 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.
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
Turner's syndrome with atrioventricular canal.
Marino B, Digilio MC, Papa M, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Pediatr Cardiol. 1991 Oct;12(4):245-6. doi: 10.1007/BF02310577. Pediatr Cardiol. 1991. PMID: 1946018 No abstract available.
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
434 results