De Falco F - Search Results

1

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F. Esposito G, et al. Among authors: de falco f. Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21905166

2

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.

Di Iorio V, Esposito G, De Falco F, Boccia R, Fioretti T, Colucci R, De Rosa G, Melillo P, Salvatore F, Simonelli F, Testa F. Di Iorio V, et al. Among authors: de rosa g, de falco f. Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1547-1555. doi: 10.1167/iovs.18-25501. Invest Ophthalmol Vis Sci. 2019. PMID: 30995293

3

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.

Fioretti T, Di Iorio V, Lombardo B, De Falco F, Cevenini A, Cattaneo F, Testa F, Pastore L, Simonelli F, Esposito G. Fioretti T, et al. Among authors: de falco f. Genes (Basel). 2021 Jul 22;12(8):1111. doi: 10.3390/genes12081111. Genes (Basel). 2021. PMID: 34440285 Free PMC article.

4

Protein network study of human AF4 reveals its central role in RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms.

Esposito G, Cevenini A, Cuomo A, de Falco F, Sabbatino D, Pane F, Ruoppolo M, Salvatore F. Esposito G, et al. Among authors: de falco f. Biochem J. 2011 Aug 15;438(1):121-31. doi: 10.1042/BJ20101633. Biochem J. 2011. PMID: 21574958 Free PMC article.

5

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.

Esposito G, De Falco F, Brazzelli V, Montanari L, Larizza D, Salvatore F. Esposito G, et al. Among authors: de falco f. J Dermatol Sci. 2009 Aug;55(2):128-30. doi: 10.1016/j.jdermsci.2009.05.002. Epub 2009 Jun 24. J Dermatol Sci. 2009. PMID: 19556108 No abstract available.

6

Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.

Esposito G, De Falco F, Neri I, Graziano C, Toschi B, Auricchio L, Gouveia C, Sousa AB, Salvatore F. Esposito G, et al. Among authors: de falco f. Br J Dermatol. 2013 Jun;168(6):1364-7. doi: 10.1111/bjd.12179. Br J Dermatol. 2013. PMID: 23278109 No abstract available.

7

Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.

Chinetti V, Iossa S, Auletta G, Corvino V, De Luca M, De Falco F, Giannini P, Lilli G, Malesci R, Riccardi P, Marciano E, Franzè A. Chinetti V, et al. Among authors: de falco f, de luca m. Int J Audiol. 2011 Dec;50(12):866-70. doi: 10.3109/14992027.2011.603757. Epub 2011 Sep 15. Int J Audiol. 2011. PMID: 21916817

8

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.

De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. De Falco F, et al. Am J Med Genet A. 2003 Jul 15;120A(2):222-8. doi: 10.1002/ajmg.a.10265. Am J Med Genet A. 2003. PMID: 12833403 Review.

9

Design and characterization of a chitosan physical gel promoting wound healing in mice.

Mayol L, De Stefano D, Campani V, De Falco F, Ferrari E, Cencetti C, Matricardi P, Maiuri L, Carnuccio R, Gallo A, Maiuri MC, De Rosa G. Mayol L, et al. Among authors: de rosa g, de falco f, de stefano d. J Mater Sci Mater Med. 2014 Jun;25(6):1483-93. doi: 10.1007/s10856-014-5175-7. Epub 2014 Mar 2. J Mater Sci Mater Med. 2014. PMID: 24584669

10

Effect of hyaluronic acid on the thermogelation and biocompatibility of its blends with methyl cellulose.

Mayol L, De Stefano D, De Falco F, Carnuccio R, Maiuri MC, De Rosa G. Mayol L, et al. Among authors: de rosa g, de falco f, de stefano d. Carbohydr Polym. 2014 Nov 4;112:480-5. doi: 10.1016/j.carbpol.2014.06.020. Epub 2014 Jun 17. Carbohydr Polym. 2014. PMID: 25129771

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