GGP04257/TI_/Telethon/Italy[Grants and Funding] - Search Results

Year	Number of Results
2005	3
2006	6
2007	3
2008	2
2009	3
2012	1
2013	1
2024	0

1

PHOX2B mutations and genetic predisposition to neuroblastoma.

Perri P, Bachetti T, Longo L, Matera I, Seri M, Tonini GP, Ceccherini I. Perri P, et al. Oncogene. 2005 Apr 21;24(18):3050-3. doi: 10.1038/sj.onc.1208532. Oncogene. 2005. PMID: 15735672

2

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S. Jannot AS, et al. PLoS One. 2013 May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519. Print 2013. PLoS One. 2013. PMID: 23671607 Free PMC article.

3

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I. Bachetti T, et al. Int J Biochem Cell Biol. 2007;39(2):327-39. doi: 10.1016/j.biocel.2006.08.014. Epub 2006 Sep 14. Int J Biochem Cell Biol. 2007. PMID: 17045833

4

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.

Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Eur J Hum Genet. 2007 Aug;15(8):848-55. doi: 10.1038/sj.ejhg.5201852. Epub 2007 May 16. Eur J Hum Genet. 2007. PMID: 17505528

5

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Bachetti T, et al. Hum Mol Genet. 2005 Jul 1;14(13):1815-24. doi: 10.1093/hmg/ddi188. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888479

6

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.

Borghini S, Bachetti T, Fava M, Di Duca M, Cargnin F, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Biochem J. 2006 Apr 15;395(2):355-61. doi: 10.1042/BJ20051386. Biochem J. 2006. PMID: 16402914 Free PMC article.

7

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, Lyonnet S. Jannot AS, et al. Eur J Hum Genet. 2012 Sep;20(9):917-20. doi: 10.1038/ejhg.2012.35. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395866 Free PMC article.

8

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.

Lantieri F, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I. Lantieri F, et al. Ann Hum Genet. 2006 Jan;70(Pt 1):12-26. doi: 10.1111/j.1529-8817.2005.00196.x. Ann Hum Genet. 2006. PMID: 16441254

9

Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences.

Musso M, Bocciardi R, Parodi S, Ravazzolo R, Ceccherini I. Musso M, et al. J Mol Diagn. 2006 Nov;8(5):544-50. doi: 10.2353/jmoldx.2006.060058. J Mol Diagn. 2006. PMID: 17065422 Free PMC article.

10

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

Bachetti T, Robbiano A, Parodi S, Matera I, Merello E, Capra V, Baglietto MP, Rossi A, Ceccherini I, Ottonello G. Bachetti T, et al. Am J Respir Crit Care Med. 2006 Sep 15;174(6):706-9. doi: 10.1164/rccm.200602-266CR. Epub 2006 Jun 8. Am J Respir Crit Care Med. 2006. PMID: 16763219

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Results by year

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

17 results

Results by year

Search Page

Filters

My Custom Filters

Results by year

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

17 results

Results by year