Giuseppe Martucciello

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo et al. · Nature · 1994 · 704 citations

Medicine, Genetics, Molecular Genetics +16

Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations

A. M. Holschneider, John M. Hutson, Albert Peña et al. · Journal of Pediatric Surgery · 2005 · 646 citations

Medicine, Surgery, Pediatric Plastic Surgery +8

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Stanislas Lyonnet, Alessandra Bolino, Anna Pelet et al. · Nature Genetics · 1993 · 192 citations

Life Sciences, Genetics, Molecular Genetics +8

Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: A report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies

Giuseppe Martucciello, Alessio Pini Prato, Prem Puri et al. · Journal of Pediatric Surgery · 2005 · 190 citations · Full text

Life Sciences, Neurology, Neuroscience +15

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Marco Seri, Virginia Barone, Alessandra Bolino et al. · Human Mutation · 1997 · 137 citations

Life Sciences, Genetics, Molecular Genetics +16