Griseri P - Search Results

1

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.

Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto M, Romeo G, Ceccherini I. Griseri P, et al. Eur J Hum Genet. 2000 Sep;8(9):721-4. doi: 10.1038/sj.ejhg.5200521. Eur J Hum Genet. 2000. PMID: 10980580

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. Among authors: griseri p. 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. 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. Hum Mutat. 2005 Feb;25(2):189-95. doi: 10.1002/humu.20135. Hum Mutat. 2005. PMID: 15643606

5

Molecular mechanisms of RET-induced Hirschsprung pathogenesis.

Lantieri F, Griseri P, Ceccherini I. Lantieri F, et al. Among authors: griseri p. Ann Med. 2006;38(1):11-9. doi: 10.1080/07853890500442758. Ann Med. 2006. PMID: 16448984 Review.

6

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

7

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

Griseri P, Vos Y, Giorda R, Gimelli S, Beri S, Santamaria G, Mognato G, Hofstra RM, Gimelli G, Ceccherini I. Griseri P, et al. Eur J Hum Genet. 2009 Apr;17(4):483-90. doi: 10.1038/ejhg.2008.191. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19300444 Free PMC article.

8

Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease.

Matera I, Musso M, Griseri P, Rusmini M, Di Duca M, So MT, Mavilio D, Miao X, Tam PH, Ravazzolo R, Ceccherini I, Garcia-Barcelo M. Matera I, et al. Among authors: griseri p. Hum Mutat. 2013 May;34(5):754-62. doi: 10.1002/humu.22302. Epub 2013 Mar 15. Hum Mutat. 2013. PMID: 23441071

9

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A. Jiang Q, et al. Among authors: griseri p. Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014. Am J Hum Genet. 2015. PMID: 25839327 Free PMC article.

10

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. Gut. 2003 Aug;52(8):1154-8. doi: 10.1136/gut.52.8.1154. Gut. 2003. PMID: 12865274 Free PMC article.

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