User:Giuseppe Martucciello
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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 [1][2][3][4][5]. Giuseppe Martucciello was also inventor of diagnostic tools for histochemical diagnosis of megacolon [6].
- ^ 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.Nature 367,377 - 378 (27);doi:10.1038/367377a0
- ^ Grosfeld JL, O'Neill JA, Fonkalsrud EW, and Coran AG. (2006)."Pediatric Surgery" Sixth Edition;Chapter 99; Mosby Editions,pp 1519
- ^ "Pediatric Surgery | Surgery | Michigan Medicine".
- ^ Romeo, Giovanni; Ronchetto, Patrizia; Luo, Yin; Barone, Virginia; Seri, Marco; Ceccherini, Isabella; Pasini, Barbara; Bocciardi, Renata; Lerone, Margherita; Kääriäinen, Helena; Martucciello, Giuseppe (1994). "Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease". Nature. 367 (6461): 377–378. doi:10.1038/367377a0. PMID 8114938.
- ^ http://www.patentbuddy.com/Inventor/Martucciello-Giuseppe/6475542 Patentbuddy.com
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. PMID 18493886.
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