Faletra F - Search Results

1

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.

Lenarduzzi S, Morgan A, Faletra F, Cappellani S, Morgutti M, Mezzavilla M, Peruzzi A, Ghiselli S, Ambrosetti U, Graziano C, Seri M, Gasparini P, Girotto G. Lenarduzzi S, et al. Among authors: faletra f. Hear Res. 2019 Sep 15;381:107769. doi: 10.1016/j.heares.2019.07.006. Epub 2019 Jul 13. Hear Res. 2019. PMID: 31387071

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: faletra f. 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: faletra f. 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. Among authors: faletra f. 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. 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

Delayed diagnosis of glycogen storage disease type III.

Minen F, Cont G, De Cunto A, Martelossi S, Ventura A, Maggiore G, Faletra F, Gasparini P, Cassandrini D. Minen F, et al. Among authors: faletra f. J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):122-4. doi: 10.1097/MPG.0b013e318228d806. J Pediatr Gastroenterol Nutr. 2012. PMID: 21691223 No abstract available.

7

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: faletra f. Gene. 2012 Jan 15;492(1):315-8. doi: 10.1016/j.gene.2011.10.035. Epub 2011 Oct 28. Gene. 2012. PMID: 22062632

8

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. Perrone MD, et al. Among authors: faletra f. Eur J Med Genet. 2012 Feb;55(2):117-9. doi: 10.1016/j.ejmg.2011.11.004. Epub 2011 Dec 2. Eur J Med Genet. 2012. PMID: 22186213

9

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

Faletra F, d'Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. Faletra F, et al. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):115-7. doi: 10.3109/13816810.2012.707273. Epub 2012 Jul 30. Ophthalmic Genet. 2013. PMID: 22846113

10

Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.

Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F. Athanasakis E, et al. Among authors: faletra f. Mol Syndromol. 2012 Jun;3(1):21-24. doi: 10.1159/000337928. Epub 2012 Apr 11. Mol Syndromol. 2012. PMID: 22855651 Free PMC article.

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