Anna Savoia

Summary

Affiliation: Telethon Institute of Genetics and Medicine
Country: Italy

Publications

  1. ncbi request reprint Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles
    Maria Savino
    Servizio di Genetica Medica, IRCCS Ospedale CSS, San Giovanni Rotondo, Italy
    Hum Mutat 24:441. 2004
  2. ncbi request reprint Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant
    Maria Savino
    Servizio di Genetica Medica, IRCCS Ospedale CSS, San Giovanni Rotondo, Foggia, Italy
    Hum Mutat 22:338-9. 2003
  3. ncbi request reprint Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia
    Simone Gangarossa
    ASL 7 Ragusa, Universita di Bologna, Italy
    Int J Mol Med 16:437-41. 2005
  4. ncbi request reprint Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene
    Alfredo Di Cerbo
    Division and Research Unit of Endocrinology and Department of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
    J Clin Endocrinol Metab 87:898-905. 2002
  5. pmc Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
    Marcella Martinelli
    J Med Genet 44:387-92. 2007
  6. ncbi request reprint Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia
    Patrizia Noris
    Department of Internal Medicine, University of Pavia, Italy
    Thromb Haemost 95:483-9. 2006
  7. ncbi request reprint Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations
    Alessandro Pecci
    Department of Internal Medicine, University of Pavia, Italy
    Hum Mol Genet 14:3169-78. 2005
  8. pmc Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
    Francesca Donaudy
    Telethon Institute of Genetics and Medicine, Dipartimento di Patologia Generale, Seconda Universita di Napoli, Naples, Italy
    Am J Hum Genet 74:770-6. 2004
  9. ncbi request reprint Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis
    Carlo L Balduini
    Clinica Medica III, IRCCS Policlinico, San Matteo University, piazzale Golgi 27100 Pavia, Italy
    Thromb Haemost 91:129-40. 2004
  10. ncbi request reprint MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
    Marco Seri
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Medicine (Baltimore) 82:203-15. 2003

Collaborators

  • Fulvio Della Ragione
  • Alessandra Renieri
  • C L Balduini
  • Ester Ballana
  • Frank Declau
  • Achille Iolascon
  • Ilaria Longo
  • Guy Van Camp
  • Xavier Estivill
  • Bruno Dallapiccola
  • F Fabris
  • Marco Cattaneo
  • Anna Biason-Lauber
  • Maria Savino
  • Alessandro Pecci
  • Marcella Martinelli
  • Marco Seri
  • Patrizia Noris
  • Filomena Di Bari
  • Leopoldo Zelante
  • Mariateresa Di Stazio
  • Simone Gangarossa
  • Roberto Cusano
  • Annalisa Palmieri
  • Furio Pezzetti
  • Luca Scapoli
  • Francesco Carinci
  • Mauro Torti
  • Paolo Gasparini
  • Francesca Donaudy
  • Maria D'Apolito
  • Gian Marco Ghiggeri
  • Roberto Ravazzolo
  • Bianca Rocca
  • Pasi A Koivisto
  • Alfredo Di Cerbo
  • Elena Masiero
  • Marzia Arlotti
  • Jlenia Marchesini
  • Paolo Carinci
  • Iride F Ceresa
  • Valeria Conti
  • Gianni F Guidetti
  • Michele Di Pumpo
  • Ilaria Canobbio
  • Carmela Marseglia
  • Barbara Cisterna
  • Alessandra Balduini
  • Lucia Stefanini
  • Nikolaus Blin
  • Carmen Lanzara
  • Filomena Baorda
  • Rik Snoeckx
  • Elena Andreucci
  • Serena Belli
  • Enrico Carabba
  • Antonella Ferrara
  • Enrico Tarantino
  • Romina Ficarella
  • Lorenzo Lo Muzio
  • Carsten M Pusch
  • Peter Nurnberg
  • Vincenza Formica
  • Salvatore Melchionda
  • Hans Peter Zenner
  • Markus Pfister
  • Francesca Mari
  • Alessandra Nigro
  • Paolo Gresele
  • Anna Monica Bianco
  • Roberto Musso
  • Juan Rodriguez Soriano
  • Maria Criscuolo
  • Carmine Pecoraro
  • Adriana Borriello
  • Nicola Bizzaro
  • Rita Calzone
  • Emanuele Panza
  • Umberto Magrini
  • Maria Del Vecchio
  • Adriana Zatterale
  • Michele Di Perna
  • Paola Malatesta
  • Hans Joenje
  • Bruno Nobili
  • Anna Di Giorgio
  • Domenico Bordo
  • Ilaria Meloni
  • Marco Perona
  • Martino Bolognesi

Detail Information

Publications13

  1. ncbi request reprint Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles
    Maria Savino
    Servizio di Genetica Medica, IRCCS Ospedale CSS, San Giovanni Rotondo, Italy
    Hum Mutat 24:441. 2004
    ..Except for p.T230P and p.F505_L506delinsLR, all the other mutations are predicted to determine a premature truncation of the protein...
  2. ncbi request reprint Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant
    Maria Savino
    Servizio di Genetica Medica, IRCCS Ospedale CSS, San Giovanni Rotondo, Foggia, Italy
    Hum Mutat 22:338-9. 2003
    ..The spectrum of FA mutations is widely in agreement with the heterogeneous ethnic origin of the Italian population...
  3. ncbi request reprint Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia
    Simone Gangarossa
    ASL 7 Ragusa, Universita di Bologna, Italy
    Int J Mol Med 16:437-41. 2005
    ..Because of the relatively common occurrence of inherited hearing loss and, at least in the Mediterranean area, of platelet macrocytosis, the two traits occurred by chance in the same family and mimicked the MYH9-related disease...
  4. ncbi request reprint Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene
    Alfredo Di Cerbo
    Division and Research Unit of Endocrinology and Department of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
    J Clin Endocrinol Metab 87:898-905. 2002
    ..Our results shed more light on the structure-function relationship of the CYP17 protein indicating that Phe 93 is crucial for both enzymatic activities...
  5. pmc Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
    Marcella Martinelli
    J Med Genet 44:387-92. 2007
    ..001), indicating that MYH9 might be a predisposing factor for CL/P, although its pathogenetic role needs to be investigated more accurately...
  6. ncbi request reprint Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia
    Patrizia Noris
    Department of Internal Medicine, University of Pavia, Italy
    Thromb Haemost 95:483-9. 2006
    ..Since no other similar cases have been reported in the literature, we suggest that an autosomal dominant thrombocytopenia associated with GPIa deficiency and alpha-granule defect represents a new form of inherited thrombocytopenia...
  7. ncbi request reprint Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations
    Alessandro Pecci
    Department of Internal Medicine, University of Pavia, Italy
    Hum Mol Genet 14:3169-78. 2005
    ..The finding that the same mutations act through different mechanisms in different cells is surprising and requires further investigation...
  8. pmc Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
    Francesca Donaudy
    Telethon Institute of Genetics and Medicine, Dipartimento di Patologia Generale, Seconda Universita di Napoli, Naples, Italy
    Am J Hum Genet 74:770-6. 2004
    ..These findings clearly demonstrate the role of MYH14 in causing autosomal dominant hearing loss and further confirm the crucial role of the myosin superfamily in auditive functions...
  9. ncbi request reprint Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis
    Carlo L Balduini
    Clinica Medica III, IRCCS Policlinico, San Matteo University, piazzale Golgi 27100 Pavia, Italy
    Thromb Haemost 91:129-40. 2004
    ....
  10. ncbi request reprint MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
    Marco Seri
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy
    Medicine (Baltimore) 82:203-15. 2003
    ..For this new nosologic entity, we propose the term "MHY9-related disease," which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects...
  11. ncbi request reprint Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine
    Carlo L Balduini
    Dipartimento di Medicina Interna, IRCCS Policlinico San Matteo, Universita di Pavia, Italy
    Haematologica 88:582-92. 2003
    ..However, diagnosis of these disorders is often difficult and requires competences that are limited to specialized centers. We, therefore, suspect that inherited thrombocytopenias are underreported because their diagnosis is often missed...
  12. ncbi request reprint Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene
    Marco Seri
    Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genoa, Italy
    Hum Genet 110:182-6. 2002
    ..In conclusion, our results extend the allelic heterogeneity of MYH9 mutations to another clinical syndrome and contribute to the clarification of the pathogenesis of the various inherited giant platelet disorders...
  13. doi request reprint Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate
    Marcella Martinelli
    Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics CARISBO Foundation, University of Bologna, Via Belmeloro, Bologna, Italy
    Eur J Oral Sci 116:287-90. 2008
    ..Our family-based investigation provided no evidence of association between MYH14 and CL/P alleles. These data do not support the involvement of MYH14 in CL/P among the Italian population...