Digilio MC - Search Results

1

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: digilio mc. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261

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

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.

9

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

10

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B. Amati F, et al. Among authors: digilio mc. Hum Genet. 1995 May;95(5):479-82. doi: 10.1007/BF00223856. Hum Genet. 1995. PMID: 7759065

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