Gualandi F - Search Results

1

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

2

Progress in understanding GJB2-linked deafness.

Gualandi F, Martini A, Calzolari E. Gualandi F, et al. Community Genet. 2003;6(3):125-32. doi: 10.1159/000078156. Community Genet. 2003. PMID: 15237196 Review.

3

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

4

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A. Sensi A, et al. Among authors: gualandi f. Am J Med Genet A. 2011 May;155A(5):1096-101. doi: 10.1002/ajmg.a.33962. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480479

5

Prenatal UPD testing survey in Robertsonian translocations.

Gualandi F, Sensi A, Trabanelli C, Falciano F, Bonfatti A, Calzolari E. Gualandi F, et al. Prenat Diagn. 2000 Jun;20(6):465-8. Prenat Diagn. 2000. PMID: 10861710

6

Mole maker phenotype: possible narrowing of the candidate region.

Sensi A, Gualandi F, Pittalis MC, Calabrese O, Falciano F, Maestri I, Bovicelli L, Calzolari E. Sensi A, et al. Among authors: gualandi f. Eur J Hum Genet. 2000 Aug;8(8):641-4. doi: 10.1038/sj.ejhg.5200501. Eur J Hum Genet. 2000. PMID: 10951527

7

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.

8

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.

Martoni E, Petrini S, Trabanelli C, Sabatelli P, Urciuolo A, Selvatici R, D'Amico A, Falzarano S, Bertini E, Bonaldo P, Ferlini A, Gualandi F. Martoni E, et al. Among authors: gualandi f. BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59. BMC Med Genet. 2013. PMID: 23738969 Free PMC article.

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

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis.

Ferlini A, Bovolenta M, Neri M, Gualandi F, Balboni A, Yuryev A, Salvi F, Gemmati D, Liboni A, Zamboni P. Ferlini A, et al. Among authors: gualandi f. BMC Med Genet. 2010 Apr 28;11:64. doi: 10.1186/1471-2350-11-64. BMC Med Genet. 2010. PMID: 20426824 Free PMC article.

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