Digilio MC - Search Results

1

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P. Giannantonio S, et al. Among authors: digilio mc. Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109790. doi: 10.1016/j.ijporl.2019.109790. Epub 2019 Nov 22. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31786483

2

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.

3

16p subtelomeric duplication: a clinically recognizable syndrome.

Digilio MC, Bernardini L, Capalbo A, Capolino R, Gagliardi MG, Marino B, Novelli A, Dallapiccola B. Digilio MC, et al. Eur J Hum Genet. 2009 Sep;17(9):1135-40. doi: 10.1038/ejhg.2009.14. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293839 Free PMC article.

4

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

Digilio MC, Bernardini L, Mingarelli R, Capolino R, Capalbo A, Giuffrida MG, Versacci P, Novelli A, Dallapiccola B. Digilio MC, et al. Am J Med Genet A. 2009 Aug;149A(8):1777-81. doi: 10.1002/ajmg.a.32965. Am J Med Genet A. 2009. PMID: 19610115

5

Familial transposition of the great arteries caused by multiple mutations in laterality genes.

De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B. De Luca A, et al. Among authors: digilio mc. Heart. 2010 May;96(9):673-7. doi: 10.1136/hrt.2009.181685. Epub 2009 Nov 20. Heart. 2010. PMID: 19933292

6

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: digilio mc. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435

7

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Am J Med Genet A. 2011 Sep;155A(9):2196-202. doi: 10.1002/ajmg.a.34131. Epub 2011 Aug 3. Am J Med Genet A. 2011. PMID: 21815254

8

Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.

Digilio MC, Bernardini L, Gagliardi MG, Versacci P, Baban A, Capolino R, Dentici ML, Roberti MC, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Clin Genet. 2013 Oct;84(4):362-7. doi: 10.1111/cge.12069. Epub 2012 Dec 28. Clin Genet. 2013. PMID: 23210894

9

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B. Digilio MC, et al. Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25. Eur J Med Genet. 2013. PMID: 23270675

10

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings.

Digilio MC, Bernardini L, Capolino R, Digilio M, Dentici ML, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: digilio m. Clin Dysmorphol. 2014 Jan;23(1):32-34. doi: 10.1097/MCD.0000000000000019. Clin Dysmorphol. 2014. PMID: 24300293 No abstract available.

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