Digilio MC - Search Results

1

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M. Martinelli S, et al. Among authors: digilio mc. Hum Mutat. 2015 Aug;36(8):787-96. doi: 10.1002/humu.22809. Epub 2015 Jun 1. Hum Mutat. 2015. PMID: 25952305 Free 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. Among authors: digilio mc. Ann Genet. 1992;35(4):208-12. Ann Genet. 1992. PMID: 1296516

3

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.

4

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

5

[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.

6

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

7

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

8

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

9

Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype.

Digilio MC, Mingarelli R, Marino B, Giannotti A, Melchionda S, Dallapiccola B. Digilio MC, et al. Clin Genet. 1994 Sep;46(3):268-70. doi: 10.1111/j.1399-0004.1994.tb04240.x. Clin Genet. 1994. PMID: 7820944

10

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

Giannotti A, Digilio MC, Mingarelli R, Dallapiccola B. Giannotti A, et al. Among authors: digilio mc. J Med Genet. 1995 Jan;32(1):72-4. doi: 10.1136/jmg.32.1.72. J Med Genet. 1995. PMID: 7897634 Free PMC article.

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