Fabretto A - Search Results

1

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

Fabretto A, Kutsche K, Harmsen MB, Demarini S, Gasparini P, Fertz MC, Zenker M. Fabretto A, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):322-4. doi: 10.1016/j.ejmg.2010.07.011. Epub 2010 Jul 29. Eur J Med Genet. 2010. PMID: 20673819

2

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

D'Adamo P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Ronfani L, Montico M, Morgutti M, Guastalla P, Gasparini P. D'Adamo P, et al. Among authors: fabretto a. Eur J Hum Genet. 2009 Mar;17(3):284-6. doi: 10.1038/ejhg.2008.225. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050724 Free PMC article. No abstract available.

3

Detection of epidermal thickening in GJB2 carriers with epidermal US.

Guastalla P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Zocconi E, Stefanidou D, D'Adamo P, Ronfani L, Montico M, Morgutti M, Gasparini P. Guastalla P, et al. Among authors: fabretto a. Radiology. 2009 Apr;251(1):280-6. doi: 10.1148/radiol.2511080912. Epub 2009 Feb 3. Radiology. 2009. PMID: 19190252

4

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.

Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. Fabretto A, et al. Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517. Ophthalmic Genet. 2010. PMID: 20450314

5

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. Faletra F, et al. Among authors: fabretto a. J Appl Genet. 2011 Feb;52(1):77-80. doi: 10.1007/s13353-010-0004-2. Epub 2010 Nov 3. J Appl Genet. 2011. PMID: 21107783 No abstract available.

6

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report.

Travan L, Pecile V, Fertz M, Fabretto A, Brovedani P, Demarini S, Opitz JM. Travan L, et al. Among authors: fabretto a. J Med Case Rep. 2011 Jun 21;5:222. doi: 10.1186/1752-1947-5-222. J Med Case Rep. 2011. PMID: 21689463 Free PMC article.

7

Molecular epidemiology of Usher syndrome in Italy.

Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P. Vozzi D, et al. Among authors: fabretto a. Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22. Mol Vis. 2011. PMID: 21738395 Free PMC article.

8

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Rocca MS, et al. Among authors: fabretto a. Gene. 2012 Jan 15;492(1):315-8. doi: 10.1016/j.gene.2011.10.035. Epub 2011 Oct 28. Gene. 2012. PMID: 22062632

9

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Fabretto A, Santa Rocca M, Perrone MD, Skabar A, Pecile V, Gasparini P. Fabretto A, et al. Am J Med Genet A. 2012 Apr;158A(4):882-7. doi: 10.1002/ajmg.a.35239. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407795

10

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Athanasakis E, et al. Among authors: fabretto a. Mol Syndromol. 2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855652 Free PMC article.

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