G Martucciello

Summary

Publications

  1. ncbi request reprint Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo
    G Martucciello
    Scientific Institute IRCCS Policlinico San Matteo, Pavia, Italy
    Eur J Pediatr Surg 17:34-40. 2007
  2. pmc Multiple endocrine neoplasias type 2B and RET proto-oncogene
    Giuseppe Martucciello
    University of Genova, DIPE, Via Gaslini, 5 Genova 16147, Italy
    Ital J Pediatr 38:9. 2012
  3. doi request reprint Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench
    G Martucciello
    Paediatric Surgery Department, Scientific Inst IRCCS Policlinico San Matteo, Pavia, Italy
    Eur J Pediatr Surg 18:140-9. 2008
  4. ncbi request reprint [Molecular biology, basic research and diagnosis of Hirschsprung's disease]
    G Martucciello
    Chirurgia Pediatrica, Scientific Insitute IRCCS Policlinico San Matteo di Pavia, Viale Golgi 19, 27100 Pavia, Italy
    Pathologe 28:119-24. 2007
  5. ncbi request reprint Solo-RBT: a new instrument for rectal suction biopsies in the diagnosis of Hirschsprung's disease
    A Pini Prato
    Department and Chair of Pediatric Surgery, Giannina Gaslini Institute, University of Genova, Italy
    J Pediatr Surg 36:1364-6. 2001
  6. ncbi request reprint Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
    S Borghini
    Laboratory of Molecular Genetics, University of Genova, Genova, Italy
    Intern Med J 39:335-7. 2009
  7. ncbi request reprint Feasibility of perineal sagittal approaches in patients without anorectal malformations
    A Pini Prato
    Department of Paediatric Surgery, Giannina Gaslini Institute, University of Genova, Largo G Gaslini 5, 16147 Genova, Italy
    Pediatr Surg Int 20:762-7. 2004
  8. ncbi request reprint Mouse-isolated plexus differentiates neural crest precursors into enteric neuroblasts
    A Brizzolara
    Department of Paediatric Surgery, G Gaslini Children s Hospital, Genoa, Italy
    Eur J Pediatr Surg 12:391-6. 2002
  9. ncbi request reprint Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles
    F Lantieri
    Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy, 16148
    Ann Hum Genet 70:12-26. 2006
  10. ncbi request reprint Currarino syndrome: proposal of a diagnostic and therapeutic protocol
    G Martucciello
    Division of Pediatric Surgery, Gaslini Children s Hospital, Genoa, Italy
    J Pediatr Surg 39:1305-11. 2004

Collaborators

  • Laura Lombardi
  • I Ceccherini
  • Jean Marie Vanderwinden
  • Gian Paolo Tonini
  • A Pini Prato
  • V Jasonni
  • M Lerone
  • R Ravazzolo
  • M Torre
  • S Borghini
  • F Lantieri
  • M Devoto
  • F Puppo
  • P Griseri
  • M Sancandi
  • A R Sementa
  • C Gambini
  • A Brizzolara
  • G Romeo
  • M Di Duca
  • R Campus
  • M Seri
  • G Patrone
  • B Pesce
  • A Michelazzi
  • A Favre
  • K H Schafer
  • M Aicardi
  • M Sanguineti
  • A Bolino
  • M Silengo
  • L T Larsson
  • D T Cass
  • I Baric
  • V Barone
  • I Kravcenkiene
  • U Kristoffersson
  • R Bocciardi
  • I Celli
  • M J Abramowicz
  • L Yin
  • B Pasini
  • J M Casasa
  • S Lyonnet
  • Y Luo
  • V Mok-Siu
  • M L Briard
  • J Weissenbach
  • A Puliti
  • H Kaariainen
  • C Nihoul-Fekete
  • A Pelet
  • A Munnich
  • L Abel

Detail Information

Publications17

  1. ncbi request reprint Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo
    G Martucciello
    Scientific Institute IRCCS Policlinico San Matteo, Pavia, Italy
    Eur J Pediatr Surg 17:34-40. 2007
    ..We developed a study aimed at establishing whether NC-derived neuroblasts can survive and colonise IN VIVO when injected into a recipient mouse gut...
  2. pmc Multiple endocrine neoplasias type 2B and RET proto-oncogene
    Giuseppe Martucciello
    University of Genova, DIPE, Via Gaslini, 5 Genova 16147, Italy
    Ital J Pediatr 38:9. 2012
    ..Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities...
  3. doi request reprint Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench
    G Martucciello
    Paediatric Surgery Department, Scientific Inst IRCCS Policlinico San Matteo, Pavia, Italy
    Eur J Pediatr Surg 18:140-9. 2008
    ....
  4. ncbi request reprint [Molecular biology, basic research and diagnosis of Hirschsprung's disease]
    G Martucciello
    Chirurgia Pediatrica, Scientific Insitute IRCCS Policlinico San Matteo di Pavia, Viale Golgi 19, 27100 Pavia, Italy
    Pathologe 28:119-24. 2007
    ..The multigenic origin of HSCR and the absence of a "standard" RET mutation associated with HSCR currently make a routine molecular diagnosis impossible...
  5. ncbi request reprint Solo-RBT: a new instrument for rectal suction biopsies in the diagnosis of Hirschsprung's disease
    A Pini Prato
    Department and Chair of Pediatric Surgery, Giannina Gaslini Institute, University of Genova, Italy
    J Pediatr Surg 36:1364-6. 2001
    ..Therefore, Solo-RBT represents a significant improvement in the diagnosis of Hirschsprung's disease and other dysganglionoses...
  6. ncbi request reprint Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
    S Borghini
    Laboratory of Molecular Genetics, University of Genova, Genova, Italy
    Intern Med J 39:335-7. 2009
    ..A role of the SPRY2 gene in IND pathogenesis can be thus excluded...
  7. ncbi request reprint Feasibility of perineal sagittal approaches in patients without anorectal malformations
    A Pini Prato
    Department of Paediatric Surgery, Giannina Gaslini Institute, University of Genova, Largo G Gaslini 5, 16147 Genova, Italy
    Pediatr Surg Int 20:762-7. 2004
    ..Although tumours can be treated via these approaches, outcome remains related to the nature and malignancy of the disease itself...
  8. ncbi request reprint Mouse-isolated plexus differentiates neural crest precursors into enteric neuroblasts
    A Brizzolara
    Department of Paediatric Surgery, G Gaslini Children s Hospital, Genoa, Italy
    Eur J Pediatr Surg 12:391-6. 2002
    ..These cells, after reaching the embryonic intestine, migrate to colonize the hindgut and form the ENS. Therefore this biotechnology seems a good method to obtain in vitro enteric precursors of ENS...
  9. ncbi request reprint Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles
    F Lantieri
    Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy, 16148
    Ann Hum Genet 70:12-26. 2006
    ..Our results suggests the possibility that a common HSCR predisposing variant, in linkage disequilibrium with such haplotypes, is located further downstream than the previously suggested interval encompassing intron 1...
  10. ncbi request reprint Currarino syndrome: proposal of a diagnostic and therapeutic protocol
    G Martucciello
    Division of Pediatric Surgery, Gaslini Children s Hospital, Genoa, Italy
    J Pediatr Surg 39:1305-11. 2004
    ..The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced...
  11. ncbi request reprint [Histochemical techniques in the morphologic diagnosis of Hirschsprung disease and related diseases]
    A R Sementa
    U O Anatomia Patologica, Istituto Giannina Gaslini, Genova
    Pathologica 95:243-4. 2003
  12. pmc Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
    M Sancandi
    J Med Genet 40:714-8. 2003
  13. ncbi request reprint Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients
    M Torre
    Divisione e Cattedra di Chirurgia Pediatrica, Istituto G Gaslini, Largo G Gaslini, Genoa, Italy
    Pediatr Surg Int 18:378-83. 2002
    ..The surgical treatment of MEN 2B is total thyroidectomy with cervical lymphadenectomy of the central compartment of the neck. When possible, this intervention should be performed prophylactically before 1 year of age...
  14. ncbi request reprint Associated anomalies in intestinal neuronal dysplasia
    G Martucciello
    Genova, Italy
    J Pediatr Surg 37:219-23. 2002
    ..The aim of this study was to identify possible associations and correlations of IND with other gastrointestinal and nongastrointestinal anomalies...
  15. ncbi request reprint Pathogenesis of Hirschsprung's disease
    G Martucciello
    Department of Pediatric Surgery, G Gaslini Children s Hospital, University of Genoa, Italy
    J Pediatr Surg 35:1017-25. 2000
    ..The expression deficit of different factors (GDNF, NTN) in the hindgut, in the absence of genetic mutations, could determine a missed activation of the receptor system, causing enteric neuroblast migration arrest...
  16. ncbi request reprint Frequency of RET mutations in long- and short-segment Hirschsprung disease
    M Seri
    Laboratorio Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Hum Mutat 9:243-9. 1997
    ..Finally the R313Q mutation identified for the first time in homozygosity in a child born of consanguineous parents is associated with the most severe Hirschsprung phenotype (total colonic aganglionosis with small bowel involvement)...
  17. ncbi request reprint A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
    S Lyonnet
    Départment de pédiatrie, l Enfant INSERM U 12 Hôpital des Enfants Malades, Paris, France
    Nat Genet 4:346-50. 1993
    ..2, a region to which other neural crest defects have been mapped...