Alessia Colosimo

Summary

Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
Country: Italy

Publications

  1. ncbi Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
    Alessia Colosimo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Hum Mutat 21:622-9. 2003
  2. ncbi Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy
    Alessia Colosimo
    CSS Mendel Institute, Viale Regine Margherita 261, 00198 Rome, Italy
    Genet Test 7:269-75. 2003
  3. ncbi Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles
    Alessia Colosimo
    CSS Mendel Institute, Rome, Italy
    Hum Mutat 19:287-95. 2002
  4. ncbi Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias
    Valentina Guida
    Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Casa Sollievo Sofferenza CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Clin Chem 50:1242-5. 2004
  5. doi Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome
    Mirella Fiorito
    CSS Mendel Institute, viale Regina Margherita, 261, 00198 Roma, Italy
    Obesity (Silver Spring) 15:2889-95. 2007
  6. pmc Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements
    Antonio Amato
    ANMI Onlus, Centro Studi Microcitemie, Rome, Italy
    Adv Hematol 2010:317542. 2010
  7. ncbi Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor
    Simona Pigullo
    Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy
    Parkinsonism Relat Disord 10:357-62. 2004
  8. ncbi Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects
    Valentina Guida
    Haematologica 91:1275-6. 2006
  9. ncbi Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells
    Alessia Colosimo
    Haematologica 92:129-30. 2007
  10. ncbi Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers
    Valentina Guida
    Haematologica 91:409-10. 2006

Collaborators

Detail Information

Publications13

  1. ncbi Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
    Alessia Colosimo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Hum Mutat 21:622-9. 2003
    ..Overall, this study represents the molecular characterization of the largest cohort of Italian WS patients and carriers studied so far, and increases the number of identified WFS1 allelic variants worldwide...
  2. ncbi Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern Italy
    Alessia Colosimo
    CSS Mendel Institute, Viale Regine Margherita 261, 00198 Rome, Italy
    Genet Test 7:269-75. 2003
    ..Because of this property our protocol has the potential to be implemented for mutational screening in different areas of high prevalence for beta-thalassemia...
  3. ncbi Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles
    Alessia Colosimo
    CSS Mendel Institute, Rome, Italy
    Hum Mutat 19:287-95. 2002
    ..Compared to classical approaches of mutation screening, this method allows a rapid, highly sensitive, cost-effective, and semi-automated simultaneous mutational scanning of a large number of samples...
  4. ncbi Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias
    Valentina Guida
    Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Casa Sollievo Sofferenza CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Clin Chem 50:1242-5. 2004
  5. doi Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome
    Mirella Fiorito
    CSS Mendel Institute, viale Regina Margherita, 261, 00198 Roma, Italy
    Obesity (Silver Spring) 15:2889-95. 2007
    ..If confirmed in other populations, comprising several thousand individuals, these data may help identify individuals at risk for insulin resistance-related abnormalities...
  6. pmc Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements
    Antonio Amato
    ANMI Onlus, Centro Studi Microcitemie, Rome, Italy
    Adv Hematol 2010:317542. 2010
    ..Since a few defects are prevalent in each country, a proper strategy for the identification of mutations in immigrant individuals relies on the prior knowledge of their frequency in native ethnic group...
  7. ncbi Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor
    Simona Pigullo
    Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy
    Parkinsonism Relat Disord 10:357-62. 2004
    ..To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET)...
  8. ncbi Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects
    Valentina Guida
    Haematologica 91:1275-6. 2006
    ..The -158GgammaT and the (AT)9(T)5alleles were found to be associated with increased levels of HbF in beta-thal carriers, but not in wild-type subjects...
  9. ncbi Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells
    Alessia Colosimo
    Haematologica 92:129-30. 2007
    ..In both cases, gene modification was assayed by allele-specific polymerase chain reaction of DNA and mRNA, by restriction fragment length polymorphism analysis and by direct sequencing...
  10. ncbi Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers
    Valentina Guida
    Haematologica 91:409-10. 2006
    ..Direct sequence analysis carried out in the remaining 65 negative individuals revealed no further sequence variants...
  11. ncbi Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family
    Antonio Amato
    Associazione Nazionale Microcitemie Italia ANMI ONLUS, Centro Studi Microcitemie di Roma, Roma, Italia
    Hemoglobin 30:405-7. 2006
    ..3% in the proband and 1% in his father)...
  12. ncbi Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis
    Paolo Guanciali-Franchi
    Dipartimento di Scienze Biomediche Sez di Genetica Medica, Universita di Chieti, 66100 Chieti, Italy
    Am J Med Genet A 127:144-8. 2004
    ..SKY analysis permitted the classification of chromosome rearrangements in all 14 cases analysed in combination with FISH analysis...
  13. ncbi Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
    Liborio Stuppia
    Dipartimento di Scienze Biomediche, Universita G D Annunzio, Chieti Pescara, Italy
    Eur J Hum Genet 13:959-64. 2005
    ..In order to improve genetic counselling of these couples, the TG-M470V-5T association was analyzed, and a statistically significant relationship between 12TG-V470 and CBAVD was detected...