Di Gilio MC - Search Results

1

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

Stuppia L, Calabrese G, Borrelli P, Gatta V, Morizio E, Mingarelli R, Di Gilio MC, Crinò A, Giannotti A, Rappold GA, Palka G. Stuppia L, et al. Among authors: di gilio mc. J Med Genet. 1999 Sep;36(9):711-3. J Med Genet. 1999. PMID: 10507731 Free PMC article.

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. Ann Genet. 1992;35(4):208-12. Ann Genet. 1992. PMID: 1296516

3

Horseshoe lung: an additional component of the Vater association.

Obregon MG, Giannotti A, Digilio MC, Barbuti D, Mingarelli R, Dallapiccola B. Obregon MG, et al. Pediatr Radiol. 1992;22(2):158. doi: 10.1007/BF02011329. Pediatr Radiol. 1992. PMID: 1307865 No abstract available.

4

Familial postaxial acrofacial dysostosis syndrome.

Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B. Giannotti A, et al. 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.

5

Radiographic findings in Wiedemann-Rautenstrauch syndrome.

Obregon MG, Bergami GL, Giannotti A, Digilio MC, Virgili Q, Guadagni AM, Pompei E, Dallapiccola B. Obregon MG, et al. Pediatr Radiol. 1992;22(6):474-5. doi: 10.1007/BF02013521. Pediatr Radiol. 1992. PMID: 1437383

6

[Partial deletion of the long arm of chromosome 17. Presentation of a clinical case].

Giannotti A, Alessandri A, Reale A, Digilio MC, Valorani MG. Giannotti A, et al. Minerva Pediatr. 1992 Jan-Feb;44(1-2):51-4. Minerva Pediatr. 1992. PMID: 1552879 Italian.

7

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

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

8

New case of Bartsocas-Papas syndrome surviving at 20 months.

Giannotti A, Digilio MC, Standoli L, Zama M, Dallapiccola B. Giannotti A, et al. Am J Med Genet. 1992 Mar 1;42(5):733-5. doi: 10.1002/ajmg.1320420522. Am J Med Genet. 1992. PMID: 1632449

9

[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.

10

Atrioventricular canal associated with trisomy 9.

Marino B, Digilio MC, Giannotti A, Dallapiccola B. Marino B, et al. Chest. 1989 Dec;96(6):1420-1. doi: 10.1378/chest.96.6.1420. Chest. 1989. PMID: 2582851

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