Digilio MC - Search Results

1

Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.

Alfieri P, Cumbo F, Serra G, Trasolini M, Frattini C, Scibelli F, Licchelli S, Cirillo F, Caciolo C, Casini MP, D'Amico A, Tartaglia M, Digilio MC, Capolino R, Vicari S. Alfieri P, et al. Among authors: digilio mc. Brain Sci. 2021 Feb 13;11(2):233. doi: 10.3390/brainsci11020233. Brain Sci. 2021. PMID: 33668418 Free PMC article.

2

Hepatic fibrosis in Kabuki syndrome.

Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC. Nobili V, et al. Among authors: digilio mc. Am J Med Genet A. 2004 Jan 15;124A(2):209-12. doi: 10.1002/ajmg.a.20387. Am J Med Genet A. 2004. PMID: 14699623

3

Polyvalvular heart disease associated with short stature, facial anomalies, and mental retardation: an additional familial report.

Digilio MC, Capolino R, Versacci P, Marino B. Digilio MC, et al. Am J Med Genet A. 2004 May 15;127A(1):101-103. doi: 10.1002/ajmg.a.20653. Am J Med Genet A. 2004. PMID: 15103728 No abstract available.

4

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2.

Digilio MC, Marino B, Capolino R, Angioni A, Sarkozy A, Roberti MC, Conti E, de Zorzi A, Dallapiccola B. Digilio MC, et al. Am J Med Genet A. 2005 Apr 15;134A(2):158-64. doi: 10.1002/ajmg.a.30587. Am J Med Genet A. 2005. PMID: 15669097

5

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: digilio mc. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.

6

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot.

Vergara P, Digilio MC, De Zorzi A, Di Carlo D, Capolino R, Rimini A, Pelegrini M, Calabro R, Marino B. Vergara P, et al. Among authors: digilio mc. Clin Dysmorphol. 2006 Apr;15(2):65-70. doi: 10.1097/01.mcd.0000198925.94082.ea. Clin Dysmorphol. 2006. PMID: 16531730

7

Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.

Calcagni G, Digilio MC, Capolino R, Dallapiccola B, Marino B. Calcagni G, et al. Among authors: digilio mc. Clin Dysmorphol. 2006 Oct;15(4):203-206. doi: 10.1097/01.mcd.0000228417.36295.4d. Clin Dysmorphol. 2006. PMID: 16957472

8

Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome.

Cambiaso P, Orazi C, Digilio MC, Loche S, Capolino R, Tozzi A, Faedda A, Cappa M. Cambiaso P, et al. Among authors: digilio mc. J Pediatr. 2007 Jan;150(1):62-5. doi: 10.1016/j.jpeds.2006.10.060. J Pediatr. 2007. PMID: 17188616

9

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.

Sarkozy A, Schirinzi A, Lepri F, Bottillo I, De Luca A, Pizzuti A, Tartaglia M, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: digilio mc. Am J Med Genet A. 2007 May 1;143A(9):1009-11. doi: 10.1002/ajmg.a.31666. Am J Med Genet A. 2007. PMID: 17366582 No abstract available.

10

Costello syndrome: clinical diagnosis in the first year of life.

Digilio MC, Sarkozy A, Capolino R, Chiarini Testa MB, Esposito G, de Zorzi A, Cutrera R, Marino B, Dallapiccola B. Digilio MC, et al. Eur J Pediatr. 2008 Jun;167(6):621-8. doi: 10.1007/s00431-007-0558-0. Epub 2007 Aug 29. Eur J Pediatr. 2008. PMID: 17726614

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