Silvana Penco

Summary

Affiliation: Niguarda Hospital
Country: Italy

Publications

  1. pmc Role of XPC, XPD, XRCC1, GSTP genetic polymorphisms and Barrett's esophagus in a cohort of Italian subjects. A neural network analysis
    Claudia Tarlarini
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    Clin Exp Gastroenterol 5:159-66. 2012
  2. doi request reprint Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach
    Silvana Penco
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital Milano, Piazza Ospedale Maggiore 3, 20162 Milan, Italy
    J Neurosurg 110:929-34. 2009
  3. doi request reprint Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease
    Silvana Penco
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    J Mol Neurosci 44:25-30. 2011
  4. pmc New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background
    Silvana Penco
    Medical Genetics, Clinical Chemistry and Clinical Pathology Laboratory, Niguarda Ca Granda Hospital P za Ospedale Maggiore 3, 20100 Milan, Italy
    BMC Bioinformatics 9:254. 2008
  5. doi request reprint Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject
    Lorena Mosca
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    Neurobiol Aging 33:1846.e1-4. 2012
  6. doi request reprint Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression
    Francesca Avemaria
    Department of Laboratory Medicine, Medical Genetics, Milan, Italy
    Amyotroph Lateral Scler 12:228-30. 2011
  7. doi request reprint Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation
    Silvana Pileggi
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    J Mol Neurosci 42:235-42. 2010
  8. doi request reprint Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
    Valeria Rimoldi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    Gene 537:79-84. 2014
  9. doi request reprint De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations
    Lorena Mosca
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Piazza Ospedale Maggiore 3, 20162, Milan, Italy
    J Mol Neurosci 47:475-80. 2012
  10. ncbi request reprint Glutamate-cysteine ligase polymorphism, hypertension, and male sex are associated with cardiovascular events. Biochemical and genetic characterization of Italian subpopulation
    Jonica Campolo
    CNR Clinical Physiology Institute Milan, Cardiology Department, Niguarda Ca Granda Hospital, Milan, Italy
    Am Heart J 154:1123-9. 2007

Collaborators

Detail Information

Publications23

  1. pmc Role of XPC, XPD, XRCC1, GSTP genetic polymorphisms and Barrett's esophagus in a cohort of Italian subjects. A neural network analysis
    Claudia Tarlarini
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    Clin Exp Gastroenterol 5:159-66. 2012
    ..Chronic gastroesophageal reflux disease and central obesity have been associated with BE and esophageal adenocarcinoma, but relatively little is known about the specific genes that confer susceptibility to BE carcinogenesis...
  2. doi request reprint Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach
    Silvana Penco
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital Milano, Piazza Ospedale Maggiore 3, 20162 Milan, Italy
    J Neurosurg 110:929-34. 2009
    ..Conclusions The identification of the molecular defect allows physicians to screen family members at risk and to identify affected individuals before the onset of clinical symptoms caused by the presence of lesions...
  3. doi request reprint Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease
    Silvana Penco
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    J Mol Neurosci 44:25-30. 2011
    ..Therefore, the novelty of our approach is also represented by the study of a single family to reproduce a composite structure in which search for possible modifier genes/genetic variants linked to SOD1 mutated...
  4. pmc New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background
    Silvana Penco
    Medical Genetics, Clinical Chemistry and Clinical Pathology Laboratory, Niguarda Ca Granda Hospital P za Ospedale Maggiore 3, 20100 Milan, Italy
    BMC Bioinformatics 9:254. 2008
    ..The results obtained have been compared with those derived from the use of standard neural networks and classical statistical analysis..
  5. doi request reprint Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject
    Lorena Mosca
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    Neurobiol Aging 33:1846.e1-4. 2012
    ..In addition, the aforementioned findings add to the debate for the ethical and psychological dilemmas about genetic counseling...
  6. doi request reprint Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression
    Francesca Avemaria
    Department of Laboratory Medicine, Medical Genetics, Milan, Italy
    Amyotroph Lateral Scler 12:228-30. 2011
    ..Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene...
  7. doi request reprint Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation
    Silvana Pileggi
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    J Mol Neurosci 42:235-42. 2010
    ..Identified genetic variations in the three genes are here presented. We believe that genetic variations could interfere with the proper CCM1/CCM2/CCM3 protein complex thus explaining the observed clinical variability...
  8. doi request reprint Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
    Valeria Rimoldi
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    Gene 537:79-84. 2014
    ....
  9. doi request reprint De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations
    Lorena Mosca
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Piazza Ospedale Maggiore 3, 20162, Milan, Italy
    J Mol Neurosci 47:475-80. 2012
    ....
  10. ncbi request reprint Glutamate-cysteine ligase polymorphism, hypertension, and male sex are associated with cardiovascular events. Biochemical and genetic characterization of Italian subpopulation
    Jonica Campolo
    CNR Clinical Physiology Institute Milan, Cardiology Department, Niguarda Ca Granda Hospital, Milan, Italy
    Am Heart J 154:1123-9. 2007
    ....
  11. doi request reprint Is the SHRSP [corrected] strain a suitable model of spontaneous CADASIL?
    Silvana Penco
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Piazza Ospedale Maggiore 3, 20162, Milan, Italy
    J Mol Neurosci 46:427-30. 2012
    ..The findings of this study exclude SHRSPs as a possible model for CADASIL...
  12. ncbi request reprint Methylenetetrahydrofolate reductase (MTHFR) and breast cancer risk: a nested-case-control study and a pooled meta-analysis
    Debora Macis
    Division of Chemoprevention, European Institute of Oncology, Milan, Italy
    Breast Cancer Res Treat 106:263-71. 2007
    ..A reduced activity of methylenetetrahydrofolate reductase (MTHFR) due to frequent C677T polymorphism affects DNA synthesis, repair and methylation and may be implicated in breast cancer risk...
  13. ncbi request reprint Gene symbol: TYR. Disease: Albinism, oculocutaneous 1
    Maria Cristina Patrosso
    Ospedale Niguarda, MI, Pza Ospedale maggiore, 3, 20162 Milan, Italy
    Hum Genet 124:294. 2008
  14. ncbi request reprint Molecular analysis of PDGFRA and PDGFRB genes by rapid single-strand conformation polymorphism (SSCP) in patients with core-binding factor leukaemias with KIT or FLT3 mutation
    Alessandra Trojani
    Division of Hematology, Niguarda Hospital, Milan, Italy
    Anticancer Res 28:2745-51. 2008
    ..The aim of this study was to investigate if PDGFR mutations are involved in CBFL...
  15. doi request reprint NOTCH3 gene mutations in subjects clinically suspected of CADASIL
    Lorena Mosca
    Department of Laboratory Medicine, Medical Genetics, Niguarda Ca Granda Hospital, Milan, Italy
    J Neurol Sci 307:144-8. 2011
    ..Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers...
  16. ncbi request reprint Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study
    Giuliana Lando
    Laboratorio Analisi Chimico Cliniche Patologia Clinica, Ospedale Niguarda Ca Granda, Milan, Italy
    Pharmacogenetics 13:265-70. 2003
    ..Genotype characterization is therefore important in order to prevent such episodes. Genetic studies have so far focused on selected individuals or families rather than on the random population...
  17. doi request reprint SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies
    Lucia Mauri
    Medical Genetics Unit, Niguarda Ca Granda Hospital, Milan, Italy
    Gene 533:398-402. 2014
    ..The high clinic variety often leads to misdiagnosis. Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects...
  18. ncbi request reprint SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
    Stefania Battistini
    Dept of Neuroscience, University of Siena, Siena, Italy
    J Neurol 252:782-8. 2005
    ..No SOD1 gene mutations have been identified in SALS cases. Within FALS cases, The most frequent mutation was the G41S identified in four FALS...
  19. ncbi request reprint Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population
    Lucia Corrado
    Laboratory of Human Genetics, Department of Medical Sciences and IRCAD Interdisciplinary Research Center of Autoimmune Diseases, Eastern Piedmont University, Novara, Italy
    J Neurol Sci 258:123-7. 2007
    ..In conclusion, we did not detect the association with rs11701-G or with any other newly detected variation in the ANG regulatory region. Furthermore we did not identify potentially causal mutations in the coding region...
  20. ncbi request reprint Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation
    Stefania Battistini
    Department of Neuroscience, University of Siena, Italy
    Arch Neurol 64:843-8. 2007
    ..2-27 (CCM3; OMIM 603285), and 3 genes have been cloned, KRIT1 on CCM1, MGC4607 on CCM2, and PDCD10 on CCM3. Mutations in KRIT1 account for more than 40% of CCMs...
  21. ncbi request reprint A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains
    Joakim Bergström
    Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1 1 1 Honjo, Kumamoto 860 0811, Japan
    Amyloid 14:141-5. 2007
    ..In this study, we report a patient having a novel TTR variant, ATTR Asn124Ser, with co-localization of kappa light chains in the amyloid deposits in the thyroid tissue...
  22. ncbi request reprint An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation
    Loretta Ferrera
    Department of Oncology, Biology and Genetics University of Genova, Genova, Italy
    Amyotroph Lateral Scler Other Motor Neuron Disord 4:167-70. 2003
    ..Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurological disease. Mutations of the Cu/Zn superoxide dismutase gene (SOD1) are responsible for 20% of autosomal dominant familial ALS (FALS)...