DNA, CELL AND TISSUE BANK

Pubblicazioni Scientifiche

• 2006 NEUROLOGY

  Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

• 2006 EPILEPSIA

  Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations

• 2006 EPILEPSIA

  A novel SCN2A mutation in family with benign familial infantile seizures

• 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

• 2001 JOURNAL OF MEDICAL GENETICS

  A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

• 2001 NATURE GENETICS

  X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

• 2006 EPILEPSIA

  Linkage analysis and disease models in benign familial infantile seizures: A study of 16 families

• 2001 AMERICAN JOURNAL OF HUMAN GENETICS

  Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

• 2006 EPILEPSIA

  Clinical and genetic findings in 26 Italian patients with Lafora disease