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Page 1
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: faletra f. Mol Syndromol. 2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855652 Free PMC article.
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.
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
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.
Abu-Amero KK, Faletra F, Gasparini P, Parentin F, Pensiero S, Alorainy IA, Hellani AM, Catalano D, Bosley TM. Abu-Amero KK, et al. Among authors: faletra f. Ophthalmic Genet. 2011 Nov;32(4):212-6. doi: 10.3109/13816810.2011.574186. Epub 2011 Apr 21. Ophthalmic Genet. 2011. PMID: 21510772
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.
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
287 results