Giulio Piluso

Summary

Affiliation: Second University of Naples
Country: Italy

Publications

  1. pmc A missense mutation in CASK causes FG syndrome in an Italian family
    Giulio Piluso
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Napoli 80138, Italy
    Am J Hum Genet 84:162-77. 2009
  2. pmc One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography
    Annalaura Torella
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, S Andrea delle dame, Via L De Crecchio 7, 80138 Napoli, Italy
    J Mol Diagn 12:65-73. 2010
  3. doi request reprint Familial trisomy 6p in mother and daughter
    Marco Savarese
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Am J Med Genet A 161:1675-81. 2013
  4. pmc Enhancer chip: detecting human copy number variations in regulatory elements
    Marco Savarese
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Napoli, Italy
    PLoS ONE 7:e52264. 2012
  5. pmc Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
    Annalaura Torella
    TIGEM Telethon Institute of Genetics and Medicine, Napoli, Italy
    PLoS ONE 8:e63536. 2013
  6. doi request reprint Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders
    Giulio Piluso
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Naples, Italy
    Clin Chem 57:1584-96. 2011
  7. pmc Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
    Mafalda Cacciottolo
    Dipartimento di Patologia Generale, Telethon Institute of Genetics and Medicine TIGEM, Seconda Universita degli Studi di Napoli, S Andrea delle dame, Via L De Crecchio 7, Naples, Italy
    Eur J Hum Genet 19:974-80. 2011
  8. doi request reprint Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
    Vincenzo Nigro
    Dipartimento di Patologia Generale and CIRM, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Curr Opin Neurol 24:429-36. 2011
  9. ncbi request reprint Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family
    Giulio Piluso
    Dipartimento di Patologia Generale, Facolta di Medicina e Chirurgia, Seconda Universita degli Studi di Napoli, Via Luigi De Crecchio 7, 80138 Naples, Italy
    Hum Genet 112:124-30. 2003
  10. doi request reprint Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines
    Ciro Abbondanza
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Naples, Italy
    J Cell Physiol 227:964-75. 2012

Collaborators

Detail Information

Publications11

  1. pmc A missense mutation in CASK causes FG syndrome in an Italian family
    Giulio Piluso
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Napoli 80138, Italy
    Am J Hum Genet 84:162-77. 2009
    ..We suggest that the observed phenotype is most likely a consequence of an altered CASK expression profile during embryogenesis, brain development, and differentiation...
  2. pmc One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography
    Annalaura Torella
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, S Andrea delle dame, Via L De Crecchio 7, 80138 Napoli, Italy
    J Mol Diagn 12:65-73. 2010
    ..Our data support combinatorial denaturing high-performance liquid chromatography analysis as a clear-cut strategy for time and cost-effective identification of small mutations when only DNA is available...
  3. doi request reprint Familial trisomy 6p in mother and daughter
    Marco Savarese
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Am J Med Genet A 161:1675-81. 2013
    ..31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature...
  4. pmc Enhancer chip: detecting human copy number variations in regulatory elements
    Marco Savarese
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Napoli, Italy
    PLoS ONE 7:e52264. 2012
    ..Validation experiments have demonstrated that Enhancer Chip efficiently detects duplications and deletions covering enhancer loci, demonstrating that it is a powerful instrument to detect and characterize copy number variable enhancers...
  5. pmc Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
    Annalaura Torella
    TIGEM Telethon Institute of Genetics and Medicine, Napoli, Italy
    PLoS ONE 8:e63536. 2013
    ..We localized the mutant TNPO3 around the nucleus, but not inside. The involvement of gene related to the nuclear transport suggests a novel disease mechanism leading to muscular dystrophy...
  6. doi request reprint Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders
    Giulio Piluso
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Naples, Italy
    Clin Chem 57:1584-96. 2011
    ....
  7. pmc Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
    Mafalda Cacciottolo
    Dipartimento di Patologia Generale, Telethon Institute of Genetics and Medicine TIGEM, Seconda Universita degli Studi di Napoli, S Andrea delle dame, Via L De Crecchio 7, Naples, Italy
    Eur J Hum Genet 19:974-80. 2011
    ..This demonstrates the high specificity of a marked reduction of Dysferlin on western blot and the value of a comprehensive molecular approach for LGMD2B/MM diagnosis...
  8. doi request reprint Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
    Vincenzo Nigro
    Dipartimento di Patologia Generale and CIRM, Seconda Universita degli Studi di Napoli, Napoli, Italy
    Curr Opin Neurol 24:429-36. 2011
    ..This review is an up-to-date analysis of the genetic diagnosis and therapeutic strategies for limb girdle muscular dystrophies (LGMDs)...
  9. ncbi request reprint Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family
    Giulio Piluso
    Dipartimento di Patologia Generale, Facolta di Medicina e Chirurgia, Seconda Universita degli Studi di Napoli, Via Luigi De Crecchio 7, 80138 Naples, Italy
    Hum Genet 112:124-30. 2003
    ..66 (recombination fraction=0) for markers between DXS8113 and sWXD805. This new locus for FG syndrome corresponds to a region of approximately 4.6 Mb on the X chromosome...
  10. doi request reprint Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell lines
    Ciro Abbondanza
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Naples, Italy
    J Cell Physiol 227:964-75. 2012
    ..We hypothesize that RIZ2, acting as a negative regulator of RIZ1 function, mediates the proliferative effect of estrogen through regulation of survival and differentiation gene expression...
  11. doi request reprint Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations
    Amelia Trimarco
    Dipartimento di Patologia Generale, Seconda Universita degli Studi di Napoli, Naples
    Clin Chem 54:973-81. 2008
    ..Novel techniques with higher detection rates, such as multiplex ligation-dependent probe amplification and multiplex amplifiable probe hybridization, have been introduced...