Ceccherini I - Search Results

1

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Lantieri F, Gimelli S, Viaggi C, Stathaki E, Malacarne M, Santamaria G, Grossi A, Mosconi M, Sloan-Béna F, Prato AP, Coviello D, Ceccherini I. Lantieri F, et al. Among authors: ceccherini i. Orphanet J Rare Dis. 2019 Nov 25;14(1):270. doi: 10.1186/s13023-019-1205-3. Orphanet J Rare Dis. 2019. PMID: 31767031 Free PMC article.

2

The physical map of the human RET proto-oncogene.

Pasini B, Hofstra RM, Yin L, Bocciardi R, Santamaria G, Grootscholten PM, Ceccherini I, Patrone G, Priolo M, Buys CH, et al. Pasini B, et al. Among authors: ceccherini i. Oncogene. 1995 Nov 2;11(9):1737-43. Oncogene. 1995. PMID: 7478601

3

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.

Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, Pasini B, Tocco T, Lerone M, Cywes S, et al. Yin L, et al. Among authors: ceccherini i. Eur J Hum Genet. 1994;2(4):272-80. doi: 10.1159/000472371. Eur J Hum Genet. 1994. PMID: 7704557

4

Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene.

Ceccherini I, Pasini B, Pacini F, Gullo M, Bongarzone I, Romei C, Santamaria G, Matera I, Mondellini P, Scopsi L, Pinchera A, Pierotti MA, Romeo G. Ceccherini I, et al. Oncogene. 1997 May 29;14(21):2609-12. doi: 10.1038/sj.onc.1201079. Oncogene. 1997. PMID: 9191060

5

Pathogenesis of Hirschsprung's disease.

Martucciello G, Ceccherini I, Lerone M, Jasonni V. Martucciello G, et al. Among authors: ceccherini i. J Pediatr Surg. 2000 Jul;35(7):1017-25. doi: 10.1053/jpsu.2000.7763. J Pediatr Surg. 2000. PMID: 10917288 Review.

6

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. Among authors: ceccherini i. Eur J Hum Genet. 2000 Sep;8(9):721-4. doi: 10.1038/sj.ejhg.5200521. Eur J Hum Genet. 2000. PMID: 10980580

7

cDNA sequence and genomic structure of the rat RET proto-oncogene.

Matera I, De Miguel-Rodríguez M, Fernández-Santos JM, Santamaria G, Puliti A, Ravazzolo R, Romeo G, Galera-Davidson H, Ceccherini I. Matera I, et al. Among authors: ceccherini i. DNA Seq. 2000;11(5):405-17. doi: 10.3109/10425170009033991. DNA Seq. 2000. PMID: 11328649

8

Hirschsprung associated GDNF mutations do not prevent RET activation.

Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: ceccherini i. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622

9

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

10

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: ceccherini i. 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

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