Puppo F - Search Results

1

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. Physiol Genomics. 2005 Nov 17;23(3):269-74. doi: 10.1152/physiolgenomics.00036.2005. Epub 2005 Sep 6. Physiol Genomics. 2005. PMID: 16144862

2

Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression.

Puppo F, Griseri P, Fanelli M, Schena F, Romeo G, Pelicci P, Ceccherini I, Ravazzolo R, Patrone G. Puppo F, et al. FEBS Lett. 2002 Jul 17;523(1-3):123-7. doi: 10.1016/s0014-5793(02)02957-5. FEBS Lett. 2002. PMID: 12123817 Free article.

3

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.

Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. Griseri P, et al. Among authors: puppo f. Am J Hum Genet. 2002 Oct;71(4):969-74. doi: 10.1086/342774. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214285 Free PMC article.

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: puppo f. Hum Mutat. 2005 Feb;25(2):189-95. doi: 10.1002/humu.20135. Hum Mutat. 2005. PMID: 15643606

5

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: puppo f. Hum Mutat. 2007 Feb;28(2):168-76. doi: 10.1002/humu.20397. Hum Mutat. 2007. PMID: 16986122

6

Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease.

Griseri P, Patrone G, Puppo F, Romeo G, Ravazzolo R, Ceccherini I. Griseri P, et al. Among authors: puppo f. Gut. 2003 Aug;52(8):1154-8. doi: 10.1136/gut.52.8.1154. Gut. 2003. PMID: 12865274 Free PMC article.

7

Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR.

Patrone G, Puppo F, Cusano R, Scaranari M, Ceccherini I, Puliti A, Ravazzolo R. Patrone G, et al. Among authors: puppo f. Biotechniques. 2000 Nov;29(5):1012-4, 1016-7. doi: 10.2144/00295st02. Biotechniques. 2000. PMID: 11084863 Free 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. Among authors: puppo f. 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

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

Sancandi M, Griseri P, Pesce B, Patrone G, Puppo F, Lerone M, Martucciello G, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. Sancandi M, et al. Among authors: puppo f. J Med Genet. 2003 Sep;40(9):714-8. doi: 10.1136/jmg.40.9.714. J Med Genet. 2003. PMID: 12960220 Free PMC article. No abstract available.

10

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: puppo f. 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.

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