Toffolatti L - Search Results

1

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.

Alemanno MS, Cama E, Santarelli R, Carella M, Zelante L, Toffolatti L, Palladino T, Melchionda S, Arslan E. Alemanno MS, et al. Among authors: toffolatti l. Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):127-31. doi: 10.1016/j.ijporl.2008.09.019. Epub 2008 Nov 5. Int J Pediatr Otorhinolaryngol. 2009. PMID: 18990456

2

A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA).

Saad FA, Vita G, Toffolatti L, Danieli GA. Saad FA, et al. Among authors: toffolatti l. Neuromuscul Disord. 1994 Jul;4(4):335-41. doi: 10.1016/0960-8966(94)90069-8. Neuromuscul Disord. 1994. PMID: 7981590

3

Analysis of 22 deletion breakpoints in dystrophin intron 49.

Nobile C, Toffolatti L, Rizzi F, Simionati B, Nigro V, Cardazzo B, Patarnello T, Valle G, Danieli GA. Nobile C, et al. Among authors: toffolatti l. Hum Genet. 2002 May;110(5):418-21. doi: 10.1007/s00439-002-0721-7. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073011

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. Genomics. 2002 Nov;80(5):523-30. Genomics. 2002. PMID: 12408970

5

Concomitant amplification and expression of PAX7-FKHR and MYCN in a human rhabdomyosarcoma cell line carrying a cryptic t(1;13)(p36;q14).

Frascella E, Lenzini E, Schafer BW, Brecevic L, Dorigo E, Toffolatti L, Nanni P, De Giovanni C, Rosolen A. Frascella E, et al. Among authors: toffolatti l. Cancer Genet Cytogenet. 2000 Sep;121(2):139-45. doi: 10.1016/s0165-4608(00)00258-2. Cancer Genet Cytogenet. 2000. PMID: 11063797

6

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

7

Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor.

Gasparotto D, Rossi S, Campagna D, Scavina P, Tiziano FD, Marzotto A, Toffolatti L, Vitelli CE, Amini M, Dei Tos AP, Maestro R. Gasparotto D, et al. Among authors: toffolatti l. J Clin Oncol. 2016 Apr 10;34(11):e99-e103. doi: 10.1200/JCO.2012.44.7300. Epub 2014 Dec 29. J Clin Oncol. 2016. PMID: 25547508 No abstract available.

8

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. Among authors: toffolatti l. 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.

9

Normal and rearranged PAX3 expression in human rhabdomyosarcoma.

Frascella E, Toffolatti L, Rosolen A. Frascella E, et al. Among authors: toffolatti l. Cancer Genet Cytogenet. 1998 Apr 15;102(2):104-9. doi: 10.1016/s0165-4608(97)00352-x. Cancer Genet Cytogenet. 1998. PMID: 9546061

10

Intervening sequences in paralogous genes: a comparative genomic approach to study the evolution of X chromosome introns.

Cardazzo B, Bargelloni L, Toffolatti L, Patarnello T. Cardazzo B, et al. Among authors: toffolatti l. Mol Biol Evol. 2003 Dec;20(12):2034-41. doi: 10.1093/molbev/msg213. Epub 2003 Aug 29. Mol Biol Evol. 2003. PMID: 12949145

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