Digilio MC - Search Results

1

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: digilio mc. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483

2

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.

3

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

4

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

5

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.

6

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.

7

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

8

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

9

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B. Giannotti A, et al. Among authors: digilio mc. Am J Med Genet. 1994 Nov 15;53(3):303-4. doi: 10.1002/ajmg.1320530320. Am J Med Genet. 1994. PMID: 7856669 No abstract available.

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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