- Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo
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...
- Multiple endocrine neoplasias type 2B and RET proto-oncogene
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...
- Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench
Paediatric Surgery Department, Scientific Inst IRCCS Policlinico San Matteo, Pavia, Italy
Eur J Pediatr Surg 18:140-9. 2008
- [Molecular biology, basic research and diagnosis of Hirschsprung's disease]
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...
- 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...
- Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
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...
- 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...
- Mouse-isolated plexus differentiates neural crest precursors into enteric neuroblasts
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...
- Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles
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...
- Currarino syndrome: proposal of a diagnostic and therapeutic protocol
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...
- [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
- Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
J Med Genet 40:714-8. 2003
- Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients
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...
- Associated anomalies in intestinal neuronal dysplasia
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...
- Pathogenesis of Hirschsprung's disease
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...
- Frequency of RET mutations in long- and short-segment Hirschsprung disease
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)...
- A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
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...