Matera I - Search Results

1

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.

Luo Y, Ceccherini I, Pasini B, Matera I, Bicocchi MP, Barone V, Bocciardi R, Kääriäinen H, Weber D, Devoto M, et al. Luo Y, et al. Among authors: matera i. Hum Mol Genet. 1993 Nov;2(11):1803-8. doi: 10.1093/hmg/2.11.1803. Hum Mol Genet. 1993. PMID: 7904208

2

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: matera i. Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785. Eur J Hum Genet. 2002. PMID: 11973622

3

Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.

Ceccherini I, Zhang AL, Matera I, Yang G, Devoto M, Romeo G, Cass DT. Ceccherini I, et al. Among authors: matera i. Hum Mol Genet. 1995 Nov;4(11):2089-96. doi: 10.1093/hmg/4.11.2089. Hum Mol Genet. 1995. PMID: 8589685

4

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. Hum Mutat. 2013 May;34(5):754-62. doi: 10.1002/humu.22302. Epub 2013 Mar 15. Hum Mutat. 2013. PMID: 23441071

5

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM. Tang CS, et al. Among authors: matera i. Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333. Hum Mol Genet. 2016. PMID: 27702942 Free PMC article.

6

Radiation hybrids for mapping and cloning DNA sequences of distal 16p.

Ceccherini I, Matera I, Sbrana M, Di Donato A, Yin L, Romeo G. Ceccherini I, et al. Among authors: matera i. Somat Cell Mol Genet. 1992 Jul;18(4):319-24. doi: 10.1007/BF01235755. Somat Cell Mol Genet. 1992. PMID: 1440054

7

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. Among authors: matera i. Oncogene. 1997 May 29;14(21):2609-12. doi: 10.1038/sj.onc.1201079. Oncogene. 1997. PMID: 9191060

8

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. DNA Seq. 2000;11(5):405-17. doi: 10.3109/10425170009033991. DNA Seq. 2000. PMID: 11328649

9

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: matera i. Hum Mol Genet. 2005 Jul 1;14(13):1815-24. doi: 10.1093/hmg/ddi188. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888479

10

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: matera i. Cytogenet Cell Genet. 2001;92(3-4):354-5. doi: 10.1159/000056931. Cytogenet Cell Genet. 2001. PMID: 11435716 No abstract available.

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