Baralle FE - Search Results

1

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

Romano M, Danek GM, Baralle FE, Mazzotti R, Filocamo M. Romano M, et al. Among authors: baralle fe. Blood Cells Mol Dis. 2000 Jun;26(3):171-6. doi: 10.1006/bcmd.2000.0293. Blood Cells Mol Dis. 2000. PMID: 10950936

2

Biochemical and molecular characterization of hereditary myeloperoxidase deficiency.

Romano M, Dri P, Da Dalt L, Patriarca P, Baralle FE. Romano M, et al. Among authors: baralle fe. Blood. 1997 Nov 15;90(10):4126-34. Blood. 1997. PMID: 9354683 Free article.

3

The A/G polymorphism in the -78 position of the apolipoprotein A-I promoter does not have a direct effect on transcriptional efficiency.

Danek GM, Valenti M, Baralle FE, Romano M. Danek GM, et al. Among authors: baralle fe. Biochim Biophys Acta. 1998 May 29;1398(1):67-74. doi: 10.1016/s0167-4781(98)00029-3. Biochim Biophys Acta. 1998. PMID: 9602064

4

Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene.

Romano M, Marcucci R, Buratti E, Ayala YM, Sebastio G, Baralle FE. Romano M, et al. Among authors: baralle fe. J Biol Chem. 2002 Nov 15;277(46):43821-9. doi: 10.1074/jbc.M208107200. Epub 2002 Sep 12. J Biol Chem. 2002. PMID: 12228232 Free article.

5

Genetic characterization of myeloperoxidase deficiency in Italy.

Marchetti C, Patriarca P, Solero GP, Baralle FE, Romano M. Marchetti C, et al. Among authors: baralle fe. Hum Mutat. 2004 May;23(5):496-505. doi: 10.1002/humu.20027. Hum Mutat. 2004. PMID: 15108282

6

An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.

Arrisi-Mercado P, Romano M, Muro AF, Baralle FE. Arrisi-Mercado P, et al. Among authors: baralle fe. J Biol Chem. 2004 Sep 17;279(38):39331-9. doi: 10.1074/jbc.M405566200. Epub 2004 Jul 7. J Biol Chem. 2004. PMID: 15247216 Free article.

7

Complex splicing control of the human Thrombopoietin gene by intronic G runs.

Marcucci R, Baralle FE, Romano M. Marcucci R, et al. Among authors: baralle fe. Nucleic Acids Res. 2007;35(1):132-42. doi: 10.1093/nar/gkl965. Epub 2006 Dec 7. Nucleic Acids Res. 2007. PMID: 17158158 Free PMC article.

8

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

Niksic M, Romano M, Buratti E, Pagani F, Baralle FE. Niksic M, et al. Among authors: baralle fe. Hum Mol Genet. 1999 Dec;8(13):2339-49. doi: 10.1093/hmg/8.13.2339. Hum Mol Genet. 1999. PMID: 10556281

9

Expression and characterization of recombinant human eosinophil peroxidase. Impact of the R286H substitution on the biosynthesis and activity of the enzyme.

Romano M, Baralle FE, Patriarca P. Romano M, et al. Among authors: baralle fe. Eur J Biochem. 2000 Jun;267(12):3704-11. doi: 10.1046/j.1432-1327.2000.01403.x. Eur J Biochem. 2000. PMID: 10848988 Free article.

10

Splicing of constitutive upstream introns is essential for the recognition of intra-exonic suboptimal splice sites in the thrombopoietin gene.

Romano M, Marcucci R, Baralle FE. Romano M, et al. Among authors: baralle fe. Nucleic Acids Res. 2001 Feb 15;29(4):886-94. doi: 10.1093/nar/29.4.886. Nucleic Acids Res. 2001. PMID: 11160920 Free PMC article.

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