Digilio MC - Search Results

1

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B. Digilio MC, et al. Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25. Eur J Med Genet. 2013. PMID: 23270675

2

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.

Obregon MG, Mingarelli R, Digilio MC, Zelante L, Giannotti A, Sabatino G, Dallapiccola B. Obregon MG, et al. Among authors: digilio mc. Ann Genet. 1992;35(4):208-12. Ann Genet. 1992. PMID: 1296516

3

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.

4

Nonrandom association of atrioventricular canal and del (8p) syndrome.

Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Am J Med Genet. 1992 Feb 15;42(4):424-7. doi: 10.1002/ajmg.1320420404. Am J Med Genet. 1992. PMID: 1609823 Review.

5

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

6

[Trisomy 18 associated with atrioventricular canal].

Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. G Ital Cardiol. 1991 Apr;21(4):433-5. G Ital Cardiol. 1991. PMID: 1936748 Italian.

7

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

8

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B. Digilio MC, et al. Am J Med Genet. 1995 Jul 31;58(1):97-8. doi: 10.1002/ajmg.1320580120. Am J Med Genet. 1995. PMID: 7573166 Review. No abstract available.

9

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.

Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. Hum Genet. 1995 Aug;96(2):251-3. doi: 10.1007/BF00207395. Hum Genet. 1995. PMID: 7635486 No abstract available.

10

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.

Amati F, Mari A, Mingarelli R, Gennarelli M, Digilio MC, Giannotti A, Marino B, Novelli G, Dallapiccola B. Amati F, et al. Among authors: digilio mc. Am J Med Genet. 1995 Jul 3;57(3):483-8. doi: 10.1002/ajmg.1320570325. Am J Med Genet. 1995. PMID: 7677156

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