Gualandi F - Search Results

1

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.

Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Bovolenta M, et al. Among authors: gualandi f. BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44. BMC Med Genet. 2010. PMID: 20302629 Free PMC article.

2

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. Among authors: gualandi f. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512

3

Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Gualandi F, et al. Am J Med Genet. 2002 Sep 15;112(1):38-45. doi: 10.1002/ajmg.10621. Am J Med Genet. 2002. PMID: 12239718

4

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T. Toffolatti L, et al. Among authors: gualandi f. Genomics. 2002 Nov;80(5):523-30. Genomics. 2002. PMID: 12408970

5

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. Gene. 2003 Jun 5;311:25-33. doi: 10.1016/s0378-1119(03)00527-4. Gene. 2003. PMID: 12853135

6

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.

Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Toffolatti L, Patarnello T, Kunz G, Muntoni F, Ferlini A. Gualandi F, et al. J Med Genet. 2003 Aug;40(8):e100. doi: 10.1136/jmg.40.8.e100. J Med Genet. 2003. PMID: 12920092 Free PMC article. No abstract available.

7

In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy.

Cohen N, Rimessi P, Gualandi F, Ferlini A, Muntoni F. Cohen N, et al. Among authors: gualandi f. Biochem Biophys Res Commun. 2004 May 14;317(4):1215-20. doi: 10.1016/j.bbrc.2004.03.175. Biochem Biophys Res Commun. 2004. PMID: 15094399

8

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: gualandi f. 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

9

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A. Gualandi F, et al. Gene. 2006 Mar 29;370:26-33. doi: 10.1016/j.gene.2005.11.002. Epub 2006 Jan 24. Gene. 2006. PMID: 16439068

10

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.

Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P. Angelin A, et al. Among authors: gualandi f. Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):991-6. doi: 10.1073/pnas.0610270104. Epub 2007 Jan 10. Proc Natl Acad Sci U S A. 2007. PMID: 17215366 Free PMC article.

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