Bachetti T - Search Results

1

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. Among authors: bachetti t. Biochem J. 2006 Apr 15;395(2):355-61. doi: 10.1042/BJ20051386. Biochem J. 2006. PMID: 16402914 Free PMC article.

2

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.

Matera I, Bachetti T, Cinti R, Lerone M, Gagliardi L, Morandi F, Motta M, Mosca F, Ottonello G, Piumelli R, Schober JG, Ravazzolo R, Ceccherini I. Matera I, et al. Among authors: bachetti t. Am J Med Genet. 2002 Nov 22;113(2):178-82. doi: 10.1002/ajmg.10746. Am J Med Genet. 2002. PMID: 12407709

3

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I. Matera I, et al. Among authors: bachetti t. J Med Genet. 2004 May;41(5):373-80. doi: 10.1136/jmg.2003.015412. J Med Genet. 2004. PMID: 15121777 Free PMC article. No abstract available.

4

A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.

Griseri P, Bachetti T, Puppo F, Lantieri F, Ravazzolo R, Devoto M, Ceccherini I. Griseri P, et al. Among authors: bachetti t. Hum Mutat. 2005 Feb;25(2):189-95. doi: 10.1002/humu.20135. Hum Mutat. 2005. PMID: 15643606

5

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. Among authors: bachetti t. Oncogene. 2005 Apr 21;24(18):3050-3. doi: 10.1038/sj.onc.1208532. Oncogene. 2005. PMID: 15735672

6

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

7

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene.

Bachetti T, Borghini S, Ravazzolo R, Ceccherini I. Bachetti T, et al. Gene Expr. 2005;12(3):137-49. doi: 10.3727/000000005783992106. Gene Expr. 2005. PMID: 16127999 Free PMC article.

8

Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus.

Puppo F, Musso M, Pirulli D, Griseri P, Bachetti T, Crovella S, Patrone G, Ceccherini I, Ravazzolo R. Puppo F, et al. Among authors: bachetti t. Physiol Genomics. 2005 Nov 17;23(3):269-74. doi: 10.1152/physiolgenomics.00036.2005. Epub 2005 Sep 6. Physiol Genomics. 2005. PMID: 16144862

9

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

10

A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.

Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I. Griseri P, et al. Among authors: bachetti t. Hum Mutat. 2007 Feb;28(2):168-76. doi: 10.1002/humu.20397. Hum Mutat. 2007. PMID: 16986122

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