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Year Number of Results
1999 2
2000 3
2001 1
2002 5
2003 2
2004 1
2020 0
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Page 1
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. 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.
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. 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.
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. 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.
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. Am J Med Genet. 2002 Nov 22;113(2):178-82. doi: 10.1002/ajmg.10746. Am J Med Genet. 2002. PMID: 12407709
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.
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.
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. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622 Free article.
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