Benedetta Toschi

Summary

Country: Italy

Publications

  1. doi request reprint Acro-cardio-facial syndrome: a microdeletion syndrome?
    Benedetta Toschi
    U O Laboratorio Genetica Medica, Santa Chiara Hospital, Pisa, Italy
    Am J Med Genet A 158:1994-9. 2012
  2. pmc Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
    Lucia Micale
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 6:38. 2011
  3. ncbi request reprint IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene
    Silvano Bertelloni
    Adolescent Medicine, I Pediatric Division, Department of Obstetrics, Gynaecology and Pediatrics, Pisa, Italy
    Hormones (Athens) 12:86-92. 2013
  4. doi request reprint NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development
    Silvano Bertelloni
    Adolescent Medicine, Division of Pediatrics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy
    Horm Res Paediatr 81:104-8. 2014
  5. doi request reprint 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
    Veronica Bertini
    Laboratorio di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    J Hum Genet 60:777-80. 2015
  6. doi request reprint Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth
    Silvano Bertelloni
    Pediatric Division, Adolescent Medicine, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy
    Sex Dev 9:183-9. 2015
  7. doi request reprint Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
    Angelo Valetto
    Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, Pisa, Italy
    Eur J Med Genet 55:362-6. 2012
  8. ncbi request reprint IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene
    Silvano Bertelloni
    Adolescent Medicine, I Pediatric Division, Department of Obstetrics, Gynaecology and Pediatrics, University Hospital, Pisa, Italy
    Hormones (Athens) 12:86-92. 2013

Collaborators

  • Giampiero I Baroncelli
  • Veronica Bertini
  • Angelo Valetto
  • Grazia Taddeucci
  • Silvano Bertelloni
  • Eleonora Dati
  • Fulvia Baldinotti
  • Paolo Simi
  • Silvia Ghione
  • Lucia Micale
  • Francesco Massart
  • Angela Michelucci
  • Maria R Sessa
  • Giacinto Marrocco
  • Giuseppe Merla
  • Sofia Douzgou
  • Bartolomeo Augello
  • Licia Turolla
  • Maria A Mencarelli
  • Maria C Digilio
  • Maria N Loviglio
  • Rita Fischetto
  • Leopoldo Zelante
  • Adriana Zatterale
  • Ester V D'Addetta
  • Teresa Mattina
  • Carmela Fusco
  • Alessia Calcagnì
  • Margherita Cirillo Silengo
  • Aldo Bonfante
  • Livia Garavelli
  • Alessandra Vancini
  • Francesca Forzano
  • Elga Belligni
  • Daniela Melis
  • Elisabetta Lapi
  • Bruno Dallapiccola
  • Paola Ferrari
  • Maria G Patricelli
  • Alexandre Reymond
  • Maurizio Clementi
  • Paolo Prontera
  • Cecilia Daolio
  • Manuela Priolo
  • Orazio Gabrielli
  • Alessandra Renieri
  • Angelo Selicorni
  • Barbara Gumiero
  • Federica Zucchetti
  • Francesca Faravelli
  • Gioacchino Scarano
  • Matteo Della Monica
  • Maria Accadia

Detail Information

Publications8

  1. doi request reprint Acro-cardio-facial syndrome: a microdeletion syndrome?
    Benedetta Toschi
    U O Laboratorio Genetica Medica, Santa Chiara Hospital, Pisa, Italy
    Am J Med Genet A 158:1994-9. 2012
    ..3 region. The recurrence in families may be explained by prenatal germline mosaicism. Alternatively, ACFS may be a genetically heterogeneous disorder which can also be caused by biallelic mutations of an autosomal recessive gene...
  2. pmc Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
    Lucia Micale
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 6:38. 2011
    ..Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause...
  3. ncbi request reprint IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene
    Silvano Bertelloni
    Adolescent Medicine, I Pediatric Division, Department of Obstetrics, Gynaecology and Pediatrics, Pisa, Italy
    Hormones (Athens) 12:86-92. 2013
    ..Short stature represents one of the main features of children with Noonan syndrome. The reason for impaired growth remains largely unknown...
  4. doi request reprint NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development
    Silvano Bertelloni
    Adolescent Medicine, Division of Pediatrics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy
    Horm Res Paediatr 81:104-8. 2014
    ..Both homozygous, compound heterozygous and heterozygous mutations in the NR5A1 gene may determine 46,XY disorders of sex development (DSD)...
  5. doi request reprint 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
    Veronica Bertini
    Laboratorio di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    J Hum Genet 60:777-80. 2015
    ..This case is one of the few examples where RPS6KA3 mutations are associated with a non-specific X-linked mental retardation. ..
  6. doi request reprint Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth
    Silvano Bertelloni
    Pediatric Division, Adolescent Medicine, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy
    Sex Dev 9:183-9. 2015
    ..Evaluation of larger patient samples treated by homogeneous doses and long-term follow-up studies assessing adult height and safety are needed to reach definitive conclusions on GH therapy in boys with 45,X/46,XY mosaicism. ..
  7. doi request reprint Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
    Angelo Valetto
    Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, Pisa, Italy
    Eur J Med Genet 55:362-6. 2012
    ..The minimal overlapping region contains only two genes, DYRK1A and KCNJ6, which may play a major role in these patients' phenotype...
  8. ncbi request reprint IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene
    Silvano Bertelloni
    Adolescent Medicine, I Pediatric Division, Department of Obstetrics, Gynaecology and Pediatrics, University Hospital, Pisa, Italy
    Hormones (Athens) 12:86-92. 2013
    ..Short stature represents one of the main features of children with Noonan syndrome. The reason for impaired growth remains largely unknown...