P Prontera

Summary

Publications

  1. 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
  2. ncbi request reprint Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis
    Paolo Prontera
    University of Ferrara, Medical genetics Unit Via Fossato di Mortara, Italy
    Prenat Diagn 26:571-6. 2006
  3. ncbi request reprint Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q)
    P Prontera
    Medical Genetics Unit, University of Perugia, Perugia, Italy
    Genet Couns 21:91-7. 2010
  4. ncbi request reprint Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?
    Paolo Prontera
    Universita di Ferrara, Genetica Medica, 44100 Ferrara, Italy
    Am J Med Genet A 140:2227-30. 2006
  5. ncbi request reprint FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
    P Prontera
    University of Ferrara, Dept of Medical Genetics, 44100 Ferrara, Italy
    Genet Couns 17:407-12. 2006
  6. ncbi request reprint A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications
    P Prontera
    Center of Medical Genetics, Dept of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy
    Genet Couns 19:413-8. 2008
  7. ncbi request reprint Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion
    P Prontera
    Genetica Medica, Universita di Ferrara, Ferrara, Italy
    Genet Couns 18:309-15. 2007
  8. ncbi request reprint An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology
    P Prontera
    University of Perugia, Department of Clinical and Experimental Medicine, Medical Genetics Unit, Perugia, Italy
    Genet Couns 19:397-402. 2008
  9. ncbi request reprint Paracentric inversion of Yq and review of the literature
    V Aiello
    Department of Medical Genetics, University of Ferrara, Ferrara, Italy
    Genet Couns 18:379-82. 2007
  10. pmc Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?
    P Prontera
    Medical Genetics Unit, University of Perugia, Perugia, Italy Department of Experimental Medicine and Biochemical Sciences, University of Perugia, Perugia, Italy
    Mol Syndromol 4:197-202. 2013

Collaborators

  • A Rossi
  • L Parnetti
  • Alessandra Ferlini
  • G Pilu
  • B Pasini
  • N Tambasco
  • A Brusco
  • Julie Vogt
  • Yasemin Alanay
  • Stephen P Robertson
  • Elizabeth Sweeney
  • Deborah Krakow
  • Yousef Shafeghati
  • Daniel H Cohn
  • Lucia Micale
  • A Castrioto
  • Alberto Sensi
  • Louise S Bicknell
  • V Aiello
  • Emilio Donti
  • Maria C Digilio
  • Alessandra Renieri
  • Licia Turolla
  • Gioacchino Scarano
  • V Rossi
  • Alessia Calcagnì
  • P Calabresi
  • Elga Belligni
  • Maria A Mencarelli
  • Bruno Dallapiccola
  • Angelo Selicorni
  • Teresa Mattina
  • Adriana Zatterale
  • Maria N Loviglio
  • Sofia Douzgou
  • E Di Gregorio
  • Francesca Forzano
  • Bartolomeo Augello
  • Maurizio Clementi
  • Manuela Priolo
  • Federica Zucchetti
  • Alessandra Vancini
  • Alexandre Reymond
  • Giuseppe Merla
  • Benedetta Toschi
  • Matteo Della Monica
  • Ester V D'Addetta
  • Barbara Gumiero
  • Elisabetta Lapi
  • Maria G Patricelli
  • Francesca Faravelli
  • Livia Garavelli
  • E Donti
  • Daniela Melis
  • Leopoldo Zelante
  • Carmela Fusco
  • Cecilia Daolio
  • Maria Accadia
  • Rita Fischetto
  • Orazio Gabrielli
  • Aldo Bonfante
  • Paola Ferrari
  • Margherita Cirillo Silengo
  • Alessandro Martini
  • Rita Gruppioni
  • Elisa Calzolari
  • Silvia Palma
  • Barbara Buldrini
  • Vincenzo Aiello
  • Stefano Volinia
  • Thomy de Ravel
  • L C Wilson
  • John G Pappas
  • Patrick Rump
  • Chong Ae Kim
  • A Sensi
  • Ellen Moran
  • Helen Firth
  • Alan Fryer
  • N Astolfi
  • B Buldrini
  • Claire Farrington-Rock
  • Kathryn Leask
  • David L Rimoin
  • Melissa Maisenbacher
  • Ralph S Lachman
  • R Gruppioni
  • Yves Alembik
  • Mohammad Hassan Karimi-Nejad
  • E Calzolari

Detail Information

Publications16

  1. 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...
  2. ncbi request reprint Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis
    Paolo Prontera
    University of Ferrara, Medical genetics Unit Via Fossato di Mortara, Italy
    Prenat Diagn 26:571-6. 2006
    ..The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed...
  3. ncbi request reprint Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q)
    P Prontera
    Medical Genetics Unit, University of Perugia, Perugia, Italy
    Genet Couns 21:91-7. 2010
    ..This is the first observation of familial transmission of a rec dup(18q), showing that this recombinant is associated with a mild phenotype with variable clinical picture...
  4. ncbi request reprint Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?
    Paolo Prontera
    Universita di Ferrara, Genetica Medica, 44100 Ferrara, Italy
    Am J Med Genet A 140:2227-30. 2006
    ..In conclusion, we emphasize the importance of examining accurately the parents of a child who has classical MPS phenotype, even those with normal stature and an absence of facial anomalies...
  5. ncbi request reprint FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
    P Prontera
    University of Ferrara, Dept of Medical Genetics, 44100 Ferrara, Italy
    Genet Couns 17:407-12. 2006
    ..CRD has not been previously described in TD or other conditions due to FGFR3 mutations, but occurs in Apert syndrome (due to FGFR2 mutations). The possible involvement of renal developmental defect in FGFR3 mutations is discussed...
  6. ncbi request reprint A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications
    P Prontera
    Center of Medical Genetics, Dept of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy
    Genet Couns 19:413-8. 2008
    ..The identification of the molecular event responsible for PGL in our family made genetic counseling particularly useful for younger first degree relatives at risk to develop this late-onset disease...
  7. ncbi request reprint Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion
    P Prontera
    Genetica Medica, Universita di Ferrara, Ferrara, Italy
    Genet Couns 18:309-15. 2007
    ..In case of prenatal detection of de novo terminal ectopic NORs an accurate cytogenetic and molecular analysis should be performed in order to rule out subtle unbalancements...
  8. ncbi request reprint An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology
    P Prontera
    University of Perugia, Department of Clinical and Experimental Medicine, Medical Genetics Unit, Perugia, Italy
    Genet Couns 19:397-402. 2008
    ..Here we report on a novel P63 mutation (the first repeat variation described in the gene) in a patient showing overlapping phenotype of AEC and RH syndromes...
  9. ncbi request reprint Paracentric inversion of Yq and review of the literature
    V Aiello
    Department of Medical Genetics, University of Ferrara, Ferrara, Italy
    Genet Couns 18:379-82. 2007
    ..Pregnancy was uneventful and an healthy child was born. We discuss the issue concerning genetic prenatal counselling of this rare condition and we report the clinical follow up of the child...
  10. pmc Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?
    P Prontera
    Medical Genetics Unit, University of Perugia, Perugia, Italy Department of Experimental Medicine and Biochemical Sciences, University of Perugia, Perugia, Italy
    Mol Syndromol 4:197-202. 2013
    ....
  11. ncbi request reprint Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review
    P Prontera
    Department of Clinical and Experimental Medicine, Medical Genetics Unit, Polo Unico Ospedaliero Santa Maria della Misericordia University Hospital, Perugia, Italy
    Genet Couns 22:41-8. 2011
    ....
  12. doi request reprint A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline
    A Castrioto
    Clinica Neurologica, Universita degli Studi di Perugia, Ospedale S Maria della Misericordia, Perugia, Italy
    Eur J Neurol 18:1263-5. 2011
    ..SCA15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. Here, we report a novel SCA15 Italian family with atypical clinical features...
  13. ncbi request reprint Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype
    Alberto Sensi
    Genetica Medica, Universita di Ferrara, Ferrara, Italy
    Am J Med Genet A 146:110-5. 2008
    ..3q35.1) and short normal regions in between. The study of karyotype-phenotype correlations in this and other patients with deletions of 4q suggests 4q33q34.1 as a candidate region for 4q-syndrome and for craniofacial development...
  14. ncbi request reprint Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation
    Paolo Prontera
    Am J Med Genet A 143:1129. 2007
  15. ncbi request reprint Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome?
    Emilio Donti
    Br J Haematol 135:265-6. 2006
  16. pmc A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
    Louise S Bicknell
    Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
    J Med Genet 44:89-98. 2007
    ..To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied...