Ceccherini I - Search Results

1

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS, Goossens M. Pingault V, et al. Among authors: ceccherini i. J Med Genet. 2001 Mar;38(3):205-9. doi: 10.1136/jmg.38.3.205. J Med Genet. 2001. PMID: 11303518 Free PMC article. No abstract available.

2

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M. Pingault V, et al. Among authors: ceccherini i. Nat Genet. 1998 Feb;18(2):171-3. doi: 10.1038/ng0298-171. Nat Genet. 1998. PMID: 9462749

3

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: ceccherini i. 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.

4

Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation.

Costa M, Fava M, Seri M, Cusano R, Sancandi M, Forabosco P, Lerone M, Martucciello G, Romeo G, Ceccherini I. Costa M, et al. Among authors: ceccherini i. J Med Genet. 2000 Jul;37(7):E9. doi: 10.1136/jmg.37.7.e9. J Med Genet. 2000. PMID: 10882761 Free PMC article. No abstract available.

5

Incidence of RET mutations in patients with Hirschsprung's disease.

Sancandi M, Ceccherini I, Costa M, Fava M, Chen B, Wu Y, Hofstra R, Laurie T, Griffths M, Burge D, Tam PK. Sancandi M, et al. Among authors: ceccherini i. J Pediatr Surg. 2000 Jan;35(1):139-42; discussion 142-3. doi: 10.1016/s0022-3468(00)80031-7. J Pediatr Surg. 2000. PMID: 10646792

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

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: ceccherini i. 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.

8

Assignment of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4-A5 by in situ hybridization.

Cinti R, Fava M, Sancandi M, Matera I, Ravazzolo R, Ceccherini I. Cinti R, et al. Among authors: ceccherini i. Cytogenet Cell Genet. 2001;92(3-4):354-5. doi: 10.1159/000056931. Cytogenet Cell Genet. 2001. PMID: 11435716 No abstract available.

9

Hirschsprung disease, associated syndromes and genetics: a review.

Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium. Amiel J, et al. Among authors: ceccherini i. J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965226 Review.

10

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I. Auricchio A, et al. Among authors: ceccherini i. Am J Hum Genet. 1999 Apr;64(4):1216-21. doi: 10.1086/302329. Am J Hum Genet. 1999. PMID: 10090908 Free PMC article. No abstract available.

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

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

268 results

Search Page

Filters