Isabella Torrente

Summary

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

Publications

  1. ncbi request reprint Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1
    Alessandro De Luca
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Hum Mutat 23:629. 2004
  2. ncbi request reprint Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas
    Alessandro De Luca
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
    Cancer Genet Cytogenet 150:168-72. 2004
  3. doi request reprint New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
    Alessandro De Luca
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Rome, Italy
    Clin Genet 80:184-90. 2011
  4. doi request reprint Familial transposition of the great arteries caused by multiple mutations in laterality genes
    Alessandro De Luca
    Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Heart 96:673-7. 2010
  5. doi request reprint Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion
    Irene Bottillo
    IRCCS, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Am J Med Genet A 152:1467-73. 2010
  6. doi request reprint Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
    Antonio Pizzuti
    Department of Experimental Medicine, Sapienza University, Rome, Italy
    Neurogenetics 12:233-40. 2011
  7. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007
  8. doi request reprint Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
    Maria Cecilia D'Asdia
    Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Eur J Med Genet 56:80-7. 2013
  9. doi request reprint A nationwide genetic testing survey in Italy, year 2007
    Bruno Dallapiccola
    IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, and CSS Mendel Institute, Rome, Italy
    Genet Test Mol Biomarkers 14:17-22. 2010
  10. ncbi request reprint DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations
    Monia Magliozzi
    IRCCS CSS Mendel Institute, Rome, Italy
    Dis Markers 22:257-64. 2006

Collaborators

Detail Information

Publications18

  1. ncbi request reprint Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1
    Alessandro De Luca
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Hum Mutat 23:629. 2004
    ..Fifteen sequence variants likely to represent non-pathogenic polymorphisms were observed at the NF1 locus. Genotype-phenotype analysis was unable to detect any obvious correlation...
  2. ncbi request reprint Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas
    Alessandro De Luca
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
    Cancer Genet Cytogenet 150:168-72. 2004
    ....
  3. doi request reprint New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
    Alessandro De Luca
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Rome, Italy
    Clin Genet 80:184-90. 2011
    ..5 to a small number of TOF cases...
  4. doi request reprint Familial transposition of the great arteries caused by multiple mutations in laterality genes
    Alessandro De Luca
    Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Heart 96:673-7. 2010
    ..In general, TGA is not associated with the more common genetic disorders nor with extracardiac anomalies, whereas it can be found in individuals with lateralisation defects, heterotaxy and asplenia syndrome (right isomerism)...
  5. doi request reprint Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion
    Irene Bottillo
    IRCCS, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Am J Med Genet A 152:1467-73. 2010
    ..Real-time PCR showed that the mutation was present in about 10-17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents...
  6. doi request reprint Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
    Antonio Pizzuti
    Department of Experimental Medicine, Sapienza University, Rome, Italy
    Neurogenetics 12:233-40. 2011
    ..Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder...
  7. pmc Functional analysis of splicing mutations in exon 7 of NF1 gene
    Irene Bottillo
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    BMC Med Genet 8:4. 2007
    ..Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to missplicing...
  8. doi request reprint Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
    Maria Cecilia D'Asdia
    Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Eur J Med Genet 56:80-7. 2013
    ..Accordingly, EVC2 exon 22 should be analyzed with priority by mutation screening in individuals with a suspected diagnosis of Weyers acrofacial dysostosis...
  9. doi request reprint A nationwide genetic testing survey in Italy, year 2007
    Bruno Dallapiccola
    IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, and CSS Mendel Institute, Rome, Italy
    Genet Test Mol Biomarkers 14:17-22. 2010
    ....
  10. ncbi request reprint DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations
    Monia Magliozzi
    IRCCS CSS Mendel Institute, Rome, Italy
    Dis Markers 22:257-64. 2006
    ..The high incidence of new and individual A-T mutations in our cohort of patients demonstrates marked mutational heterogeneity of A-T in Italy and corroborate the efficiency of DHPLC as a method for the mutation screening of A-T patients...
  11. pmc ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression
    Anna Guarini
    Division of Hematology, Department of Cellular Biotechnologies and Hematology, Sapienza University, Rome, Italy
    Haematologica 97:47-55. 2012
    ..The genetic characterization of chronic lymphocytic leukemia cells correlates with the behavior, progression and response to treatment of the disease...
  12. doi request reprint 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...
  13. doi request reprint Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
    Anna Modoni
    Department of Neuroscience, Catholic University, Rome, Italy
    J Clin Neurophysiol 28:39-44. 2011
    ..The 3 Hz protocol was well tolerated and showed good sensitivity and reproducibility. Furthermore, this test might be suitable for genotype-phenotype correlation studies...
  14. ncbi request reprint Genetic testing in Italy, year 2004
    Bruno Dallapiccola
    Istituto CSS Mendel, viale Regina Margherita, Rome, Italy
    Eur J Hum Genet 14:911-6. 2006
    ....
  15. ncbi request reprint Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation
    Laura Bernardini
    Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Roma, Italy
    Eur J Med Genet 50:94-102. 2007
    ..In three subjects the involvement of the same euchromatic 1p region was demonstrated. Present observations corroborate previous results and provide some insight into the identification of the harmless ring(1) structures...
  16. ncbi request reprint 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...
  17. ncbi request reprint Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
    Eloisa Arbustini
    Cardiovascular Genetic Laboratory Transplant Research Area GISM Interdisciplinary Group for Marfan Syndrome, IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy
    Hum Mutat 26:494. 2005
    ..5%). Most mutations (67.9%) occurred in cbEGF-like modules. Genotype was clinically relevant for early diagnosis and conclusion of the diagnostic work-up in patients with incomplete or atypical phenotypes...
  18. ncbi request reprint Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients
    Massimo Torlontano
    Department of Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, v le Cappuccini, 71013 San Giovanni Rotondo, Italy
    J Clin Endocrinol Metab 93:910-3. 2008
    ..A common variant of the gene, threonine (Thr) 92 alanine (Ala), has been identified and associated with decreased D2 enzymatic activity...