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Currarino syndrome: proposal of a diagnostic and therapeutic protocol.
Martucciello G, Torre M, Belloni E, Lerone M, Pini Prato A, Cama A, Jasonni V. Martucciello G, et al. Among authors: belloni e. J Pediatr Surg. 2004 Sep;39(9):1305-11. doi: 10.1016/j.jpedsurg.2004.05.003. J Pediatr Surg. 2004. PMID: 15359381 Review.
Involvement of the HLXB9 homeobox gene in Currarino syndrome.
Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW. Belloni E, et al. Am J Hum Genet. 2000 Jan;66(1):312-9. doi: 10.1086/302723. Am J Hum Genet. 2000. PMID: 10631160 Free PMC article. No abstract available.
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Garcia-Barceló M, So MT, Lau DK, Leon TY, Yuan ZW, Cai WS, Lui VC, Fu M, Herbrick JA, Gutter E, Proud V, Li L, Pierre-Louis J, Aleck K, van Heurn E, Belloni E, Scherer SW, Tam PK. Garcia-Barceló M, et al. Among authors: belloni e. Clin Chem. 2006 Jan;52(1):46-52. doi: 10.1373/clinchem.2005.056192. Epub 2005 Oct 27. Clin Chem. 2006. PMID: 16254195
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M. Vargas FR, et al. Among authors: belloni e. Hum Genet. 1998 Apr;102(4):387-92. doi: 10.1007/s004390050709. Hum Genet. 1998. PMID: 9600232 Review.
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. Ross AJ, et al. Among authors: belloni e. Nat Genet. 1998 Dec;20(4):358-61. doi: 10.1038/3828. Nat Genet. 1998. PMID: 9843207
121 results