I Torrente

Summary

Country: Italy

Publications

  1. ncbi request reprint Spontaneous carotid dissection presenting lower cranial nerve palsies
    D Guidetti
    Divisione Neurologica, Azienda Ospedaliera Santa Maria Nuova, Viale Risorgimento 80, 42100 Reggio Emilia, Italy
    J Neurol Sci 184:203-7. 2001
  2. ncbi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    D Guidetti
    Divisione di Neurologia, Azienda Ospedaliera Santa Maria Nuova, Reggio Emilia, Italy
    Clin Exp Hypertens 28:271-7. 2006
  3. ncbi request reprint An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene
    D Guidetti
    Division of Neurology, Santa Maria Nuova Hospital, Viale Risorgimento 80, I 42100, Reggio Emilia, Italy
    Neurol Sci 24:401-6. 2004
  4. ncbi request reprint Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy
    D Guidetti
    Neurological Department, Santa Maria Nuova Hospital, Reggio Emilia, Italy
    Eur J Epidemiol 17:587-91. 2001
  5. ncbi request reprint Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
    M G Miano
    International Institute of Genetics and Biophysics, CNR, Naples, Italy
    Eur J Hum Genet 7:687-94. 1999
  6. ncbi request reprint Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy
    I Torrente
    Am J Med Genet 72:242-4. 1997
  7. ncbi request reprint Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma
    I Torrente
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    J Endocrinol Invest 27:111-6. 2004
  8. ncbi request reprint Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa
    A De Luca
    Dipartimento di Biopatologia e Diagnostica per Immagini, , Rome, Italy
    Mutat Res 432:79-82. 2001
  9. ncbi request reprint Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
    M G Miano
    International Institute of Genetics and Biophysics, CNR, Naples, Italy
    Hum Mutat 18:109-19. 2001
  10. ncbi request reprint Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates
    A De Luca
    Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Universita di Roma Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
    Neurogenetics 3:79-82. 2001

Collaborators

  • M Teresa Dotti
  • G Pasquinelli
  • Giulio Zuccoli
  • D Guidetti
  • A De Luca
  • M G Miano
  • B Dallapiccola
  • M Mangino
  • B Casali
  • R L Mazzei
  • G Novelli
  • E Rinaldi
  • C De Bernardo
  • M D'Urso
  • V Ventruto
  • F Testa
  • M Trujillo
  • C Ayuso
  • F Simonelli
  • A Ciccodicola
  • B Grammatico
  • S Giustini
  • L Sinibaldi
  • I Bottillo
  • A Novelli
  • A Morella
  • M C Dasdia
  • V Lanari
  • L Divona
  • L Bernardini
  • A Schirinzi
  • G Cenacchi
  • F L Conforti
  • D Nicoli
  • G De Berti
  • T Sprovieri
  • M Brini
  • N Filograsso
  • R Danesi
  • I Conte
  • A Pisanello
  • J M Millan
  • C Morandi
  • R Carrozzo
  • M Rizzardi
  • F Giovanardi
  • C Lanzara
  • F Filippini
  • G P Salvioli
  • A Troiso
  • R Sabadini
  • R Alessandroni
  • A Ferlini
  • G Antinolo
  • C Danesino
  • M Strazzullo
  • G Ruberto
  • M Beneyto
  • M Baiget

Detail Information

Publications11

  1. ncbi request reprint Spontaneous carotid dissection presenting lower cranial nerve palsies
    D Guidetti
    Divisione Neurologica, Azienda Ospedaliera Santa Maria Nuova, Viale Risorgimento 80, 42100 Reggio Emilia, Italy
    J Neurol Sci 184:203-7. 2001
    ..Compression or stretching of the nerve by the expanded artery may explain the palsies, but an alternative cause is also possible, namely the interruption of the nutrient vessels supplying the nerve, which in our patients is more likely...
  2. ncbi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    D Guidetti
    Divisione di Neurologia, Azienda Ospedaliera Santa Maria Nuova, Reggio Emilia, Italy
    Clin Exp Hypertens 28:271-7. 2006
    ..GOMs are not present in presymptomatic patients...
  3. ncbi request reprint An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene
    D Guidetti
    Division of Neurology, Santa Maria Nuova Hospital, Viale Risorgimento 80, I 42100, Reggio Emilia, Italy
    Neurol Sci 24:401-6. 2004
    ..The mutation led to a gain of a cysteine residue. This is the first missense mutation in codon 1006 of exon 19 of the Notch3 gene to be described in Italy and the second reported in the literature...
  4. ncbi request reprint Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy
    D Guidetti
    Neurological Department, Santa Maria Nuova Hospital, Reggio Emilia, Italy
    Eur J Epidemiol 17:587-91. 2001
    ....
  5. ncbi request reprint Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
    M G Miano
    International Institute of Genetics and Biophysics, CNR, Naples, Italy
    Eur J Hum Genet 7:687-94. 1999
    ..None of the RPGR mutations reported in other populations were identified in our series. Our results are consistent with the notions of heterogeneity and minority causation of XLRP by mutations in RPGR in Caucasian populations...
  6. ncbi request reprint Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy
    I Torrente
    Am J Med Genet 72:242-4. 1997
  7. ncbi request reprint Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma
    I Torrente
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    J Endocrinol Invest 27:111-6. 2004
    ..As such, it can be proposed as a relatively simple and highly accurate method for a rapid genetic testing for members of MTC families...
  8. ncbi request reprint Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa
    A De Luca
    Dipartimento di Biopatologia e Diagnostica per Immagini, , Rome, Italy
    Mutat Res 432:79-82. 2001
    ..These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein...
  9. ncbi request reprint Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
    M G Miano
    International Institute of Genetics and Biophysics, CNR, Naples, Italy
    Hum Mutat 18:109-19. 2001
    ....
  10. ncbi request reprint Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates
    A De Luca
    Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Universita di Roma Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
    Neurogenetics 3:79-82. 2001
    ..These results confirm and extend the genetic influence of the DRD4 gene in human temperament at birth...
  11. pmc Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
    A De Luca
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    J Med Genet 44:800-8. 2007
    ....