d'Eustacchio A - Search Results

1

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P. Girotto G, et al. PLoS One. 2013 Dec 2;8(12):e80323. doi: 10.1371/journal.pone.0080323. eCollection 2013. PLoS One. 2013. PMID: 24312468 Free PMC article. Clinical Trial.

2

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, Badii R, Gasparini P, Girotto G. Vozzi D, et al. Gene. 2014 Jun 1;542(2):209-16. doi: 10.1016/j.gene.2014.03.033. Epub 2014 Mar 20. Gene. 2014. PMID: 24657061

3

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.

Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Licastro D, et al. PLoS One. 2012;7(8):e43799. doi: 10.1371/journal.pone.0043799. Epub 2012 Aug 29. PLoS One. 2012. PMID: 22952768 Free PMC article.

4

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.

D'Adamo P, Donaudy F, D'Eustacchio A, Di Iorio E, Melchionda S, Gasparini P. D'Adamo P, et al. Eur J Hum Genet. 2003 Feb;11(2):121-4. doi: 10.1038/sj.ejhg.5200929. Eur J Hum Genet. 2003. PMID: 12634859

5

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D'Eustacchio A, Osland TM, Rossi C, Graziano C, Castorina P, Ambrosetti U, Morgutti M, Girotto G. Lenarduzzi S, et al. Among authors: d eustacchio a. Hear Res. 2015 Feb;320:18-23. doi: 10.1016/j.heares.2014.12.006. Epub 2015 Jan 6. Hear Res. 2015. PMID: 25575603 Free article.

6

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F. Rubinato E, et al. Among authors: d eustacchio a. Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14. Gene. 2014. PMID: 24835313

7

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

Di Leva F, D'Adamo P, Cubellis MV, D'Eustacchio A, Errichiello M, Saulino C, Auletta G, Giannini P, Donaudy F, Ciccodicola A, Gasparini P, Franzè A, Marciano E. Di Leva F, et al. Audiol Neurootol. 2006;11(3):157-64. doi: 10.1159/000091199. Epub 2006 Jan 9. Audiol Neurootol. 2006. PMID: 16449806

8

A technical application of quantitative next generation sequencing for chimerism evaluation.

Aloisio M, Licastro D, Caenazzo L, Torboli V, D'Eustacchio A, Severini GM, Athanasakis E. Aloisio M, et al. Among authors: d eustacchio a. Mol Med Rep. 2016 Oct;14(4):2967-74. doi: 10.3892/mmr.2016.5593. Epub 2016 Aug 4. Mol Med Rep. 2016. PMID: 27499173 Free PMC article.

9

A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.

D'Adamo P, Pinna M, Capobianco S, Cesarani A, D'Eustacchio A, Fogu P, Carella M, Seri M, Gasparini P. D'Adamo P, et al. Hum Genet. 2003 Mar;112(3):319-20. doi: 10.1007/s00439-002-0880-6. Epub 2002 Dec 13. Hum Genet. 2003. PMID: 12596055

10

Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.

Pirastu N, Kooyman M, Traglia M, Robino A, Willems SM, Pistis G, d'Adamo P, Amin N, d'Eustacchio A, Navarini L, Sala C, Karssen LC, van Duijn C, Toniolo D, Gasparini P. Pirastu N, et al. PLoS One. 2014 Mar 19;9(3):e92065. doi: 10.1371/journal.pone.0092065. eCollection 2014. PLoS One. 2014. PMID: 24647340 Free PMC article.

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