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Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. Matera I, et al. Among authors: martucciello g. Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813947 Free PMC article.
Diagnostic Criteria of Pediatric Intestinal Myopathies.
Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G. Lombardi L, et al. Among authors: martucciello g. J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. J Pediatr Gastroenterol Nutr. 2018. PMID: 28837505
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Di Zanni E, Adamo A, Belligni E, Lerone M, Martucciello G, Mattioli G, Pini Prato A, Ravazzolo R, Silengo M, Bachetti T, Ceccherini I. Di Zanni E, et al. Among authors: martucciello g. Biochim Biophys Acta Mol Basis Dis. 2017 Jul;1863(7):1770-1777. doi: 10.1016/j.bbadis.2017.04.017. Epub 2017 Apr 20. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28433712 Free article.
Associated anomalies in intestinal neuronal dysplasia.
Martucciello G, Torre M, Pini Prato A, Lerone M, Campus R, Leggio S, Jasonni V. Martucciello G, et al. J Pediatr Surg. 2002 Feb;37(2):219-23. doi: 10.1053/jpsu.2002.30258. J Pediatr Surg. 2002. PMID: 11819202
Pathogenesis of Hirschsprung's disease.
Martucciello G, Ceccherini I, Lerone M, Jasonni V. Martucciello G, et al. J Pediatr Surg. 2000 Jul;35(7):1017-25. doi: 10.1053/jpsu.2000.7763. J Pediatr Surg. 2000. PMID: 10917288 Review.
104 results