User:Giuseppe Martucciello

Giuseppe Martucciello

Pediatric Surgeon - Inventor - Discoverer. Investigator who published in 1992 the first genetic alteration - 46, XX, del 10 (q11.21 q21.2) karyotype and the first major causative gene of Hirschsprung's disease or congenital megacolon. Giuseppe Martucciello was also inventor of diagnostic tools for histochemical diagnosis of megacolon.

References /


 * Martucciello G, Bicocchi MP, Dodero P, Lerone M, Silengo Cirillo M, Puliti A, Gimelli G, Romeo G.Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. ( 1992 July), Pediatric Surgery International. Vol 7, 4, 308-310, DOI: 10.1007/BF00183991
 * Romeo G,Ronchetto P, Luo Y,Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H & Martucciello G.(Jan 1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature367,377-378(27);doi:10.1038/367377a0
 * Teitelbaund DH, Coran AG. (2006)."Hirschsprung's disease and Related Neuromuscular Disorders of the Intestine".Chapter 99; ed. Grosfeld JL, O'Neill JA, Fonkalsrud EW, and Coran AG." Pediatric Surgery" Sixth Edition; Mosby Editions, pp 1519
 * Martucciello G. (2008 Jun) "Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench". Eur J Pediatr Surg. ;18(3):140-9. Review..

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