Ferlini A - Search Results

1

Can paranasal sinus computed tomography screen for cystic fibrosis heterozygotes?

Malagutti N, Cogliandolo C, Franciosi D, Ferlini A, Rimessi P, Ravani A, Bianchini C, Ciorba A, Stomeo F, Pelucchi S. Malagutti N, et al. Among authors: ferlini a. Panminerva Med. 2022 Mar;64(1):116-119. doi: 10.23736/S0031-0808.19.03588-2. Epub 2019 Feb 11. Panminerva Med. 2022. PMID: 30747503 No abstract available.

2

Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR.

Feriotto G, Ferlini A, Ravani A, Calzolari E, Mischiati C, Bianchi N, Gambari R. Feriotto G, et al. Among authors: ferlini a. Hum Mutat. 2001;18(1):70-81. doi: 10.1002/humu.1151. Hum Mutat. 2001. PMID: 11438995

3

Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality.

Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A. Gualandi F, et al. Among authors: ferlini a. Gene. 2003 Jun 5;311:25-33. doi: 10.1016/s0378-1119(03)00527-4. Gene. 2003. PMID: 12853135

4

Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele.

Gualandi E, Ravani A, Berto A, Burdo S, Trevisi P, Ferlini A, Martini A, Calzolari E. Gualandi E, et al. Among authors: ferlini a. Acta Otolaryngol Suppl. 2004 May;(552):29-34. doi: 10.1080/03655230410017166. Acta Otolaryngol Suppl. 2004. PMID: 15219044

5

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Rimessi P, et al. Among authors: ferlini a. Am J Med Genet A. 2005 Feb 1;132A(4):391-4. doi: 10.1002/ajmg.a.30513. Am J Med Genet A. 2005. PMID: 15641026

6

Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.

Rimessi P, Spitali P, Ando Y, Mazzaferro V, Pastorelli F, Tassinari CA, Calzolari E, Salvi F, Ferlini A. Rimessi P, et al. Among authors: ferlini a. Liver Int. 2006 Mar;26(2):211-20. doi: 10.1111/j.1478-3231.2005.01208.x. Liver Int. 2006. PMID: 16448460

7

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A. Bovolenta M, et al. Among authors: ferlini a. BMC Genomics. 2008 Nov 28;9:572. doi: 10.1186/1471-2164-9-572. BMC Genomics. 2008. PMID: 19040728 Free PMC article.

8

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.

Rimessi P, Sabatelli P, Fabris M, Braghetta P, Bassi E, Spitali P, Vattemi G, Tomelleri G, Mari L, Perrone D, Medici A, Neri M, Bovolenta M, Martoni E, Maraldi NM, Gualandi F, Merlini L, Ballestri M, Tondelli L, Sparnacci K, Bonaldo P, Caputo A, Laus M, Ferlini A. Rimessi P, et al. Among authors: ferlini a. Mol Ther. 2009 May;17(5):820-7. doi: 10.1038/mt.2009.8. Epub 2009 Feb 24. Mol Ther. 2009. PMID: 19240694 Free PMC article.

9

Exon skipping-mediated dystrophin reading frame restoration for small mutations.

Spitali P, Rimessi P, Fabris M, Perrone D, Falzarano S, Bovolenta M, Trabanelli C, Mari L, Bassi E, Tuffery S, Gualandi F, Maraldi NM, Sabatelli-Giraud P, Medici A, Merlini L, Ferlini A. Spitali P, et al. Among authors: ferlini a. Hum Mutat. 2009 Nov;30(11):1527-34. doi: 10.1002/humu.21092. Hum Mutat. 2009. PMID: 19760747

10

Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy.

Rimessi P, Fabris M, Bovolenta M, Bassi E, Falzarano S, Gualandi F, Rapezzi C, Coccolo F, Perrone D, Medici A, Ferlini A. Rimessi P, et al. Among authors: ferlini a. Hum Gene Ther. 2010 Sep;21(9):1137-46. doi: 10.1089/hum.2010.010. Hum Gene Ther. 2010. PMID: 20486769

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