Manuela Priola

Summary

Country: Italy

Publications

  1. ncbi 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 Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas
    Giovanni Ponti
    Department of Internal Medicine, Division of Dermatology, University of Modena and Reggio Emilia, Modena, Italy
    Hered Cancer Clin Pract 9:6. 2011
  3. ncbi Ectodermal dysplasias: a new clinical-genetic classification
    M Priolo
    Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi Melacrino Morelli, Via Melacrino, 89100 Reggio Calabria, Italy
    J Med Genet 38:579-85. 2001
  4. ncbi Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms
    Manuela Priolo
    Operative Unit of Medical Genetics Bianchi Melacrino Morelli Hospital, Reggio Calabria, Italy
    Am J Med Genet A 149:2003-13. 2009
  5. ncbi Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH
    Manuela Priolo
    Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az Ospedaliera Bianchi Melacrino Morelli, V Petrara Reggio Calabria, 89100 Reggio Calabria, RC, Italy
    Eur J Med Genet 50:139-43. 2007
  6. ncbi MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
    Manuela Priolo
    Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az Ospedaliera Bianchi Melacrino Morelli, V Petrara Reggio Calabria, Reggio Calabria, Italy
    Eur J Hum Genet 16:565-71. 2008
  7. ncbi Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
    P De Biasio
    Department of Obstetrics and Gynaecology, G Gaslini Institute, University of Genova, Genova, Italy
    Prenat Diagn 20:835-7. 2000
  8. ncbi Expanding the phenotype of 22q11 deletion syndrome: the MURCS association
    Vera Uliana
    Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
    Clin Dysmorphol 17:13-7. 2008
  9. ncbi Clinical and molecular characterization of Italian patients affected by Cohen syndrome
    Eleni Katzaki
    Medical Genetics, Department of Molecular Biology, University of Siena, V Le Bracci 2, 53100 Siena, Italy
    J Hum Genet 52:1011-7. 2007
  10. ncbi Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008

Collaborators

  • Orsetta Zuffardi
  • Andrea Riccio
  • Federico Prefumo
  • Yves Lacassie
  • Andrea Rossi
  • Maarit M Peippo
  • CAROLYN MERVIS
  • Manuela Priolo
  • Alessandra Renieri
  • Vera Uliana
  • Giovanni Ponti
  • Lucia Micale
  • Alexandre Reymond
  • Angelo Selicorni
  • Bruno Dallapiccola
  • Rita Fischetto
  • Christian R Marshall
  • Carmelo Laganà
  • Ilaria Meloni
  • Francesca Mari
  • Filomena Tiziana Papa
  • Francesca Ariani
  • Margherita Cirillo Silengo
  • Eleni Katzaki
  • M Priolo
  • Maria Teresa Divizia
  • Maria G Patricelli
  • Francesca Forzano
  • Daniela Melis
  • Carmela Fusco
  • Licia Turolla
  • Leopoldo Zelante
  • Aldo Bonfante
  • Elisa Boni
  • Teresa Mattina
  • Giuseppe Merla
  • Tauro Maria Neri
  • Gioacchino Scarano
  • Paola Ferrari
  • Maria A Mencarelli
  • Matteo Della Monica
  • Livia Garavelli
  • Maurizio Clementi
  • Benedetta Toschi
  • Maria C Digilio
  • Bartolomeo Augello
  • Annamaria Pollio
  • Alessia Calcagnì
  • Adriana Zatterale
  • Maria N Loviglio
  • Maria Accadia
  • Cecilia Daolio
  • Stefania Seidenari
  • Alessandra Vancini
  • Sofia Douzgou
  • Lorena Losi
  • Elisabetta Lapi
  • Davide Martorana
  • Elga Belligni
  • Barbara Gumiero
  • Paolo Prontera
  • Federica Zucchetti
  • Francesca Faravelli
  • Orazio Gabrielli
  • Ester V D'Addetta
  • P De Biasio
  • Stephen W Scherer
  • Kristi K Fitzgerald
  • Cédric Howald
  • Mary-Louise Freckmann
  • Ronald G Gregg
  • Patrick Edery
  • Rossella Caselli
  • Mary Louise Freckmann
  • Paige Kaplan
  • Ikuko Kondo
  • Esra Manguoglu
  • Lucy R Osborne
  • Panagiotis Papakostas
  • Ranuccio Nuti
  • Sibel Berker-Karauzum
  • Flavia Cerrato
  • Kate Shane
  • Masafumi Morimoto
  • Angela Sparago
  • Fabio Rollo
  • Ariel M Pani
  • Nicola Giordano
  • Colleen A Morris
  • Claudio Marcocci

Detail Information

Publications12

  1. ncbi 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 Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas
    Giovanni Ponti
    Department of Internal Medicine, Division of Dermatology, University of Modena and Reggio Emilia, Modena, Italy
    Hered Cancer Clin Pract 9:6. 2011
    ..abstract:..
  3. ncbi Ectodermal dysplasias: a new clinical-genetic classification
    M Priolo
    Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi Melacrino Morelli, Via Melacrino, 89100 Reggio Calabria, Italy
    J Med Genet 38:579-85. 2001
    ....
  4. ncbi Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms
    Manuela Priolo
    Operative Unit of Medical Genetics Bianchi Melacrino Morelli Hospital, Reggio Calabria, Italy
    Am J Med Genet A 149:2003-13. 2009
    ....
  5. ncbi Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH
    Manuela Priolo
    Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az Ospedaliera Bianchi Melacrino Morelli, V Petrara Reggio Calabria, 89100 Reggio Calabria, RC, Italy
    Eur J Med Genet 50:139-43. 2007
    ..High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age...
  6. ncbi MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
    Manuela Priolo
    Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az Ospedaliera Bianchi Melacrino Morelli, V Petrara Reggio Calabria, Reggio Calabria, Italy
    Eur J Hum Genet 16:565-71. 2008
    ..5 critical region within one single experiment and represents an easy, low cost and reliable system for the molecular diagnostics of BWS and SRS...
  7. ncbi Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
    P De Biasio
    Department of Obstetrics and Gynaecology, G Gaslini Institute, University of Genova, Genova, Italy
    Prenat Diagn 20:835-7. 2000
    ..Implications for perinatal management are discussed...
  8. ncbi Expanding the phenotype of 22q11 deletion syndrome: the MURCS association
    Vera Uliana
    Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy
    Clin Dysmorphol 17:13-7. 2008
    ..We discuss whether this is a casual association or whether it is an additional syndrome owing to the well known phenotype extensive variability of the 22q11 deletion syndrome...
  9. ncbi Clinical and molecular characterization of Italian patients affected by Cohen syndrome
    Eleni Katzaki
    Medical Genetics, Department of Molecular Biology, University of Siena, V Le Bracci 2, 53100 Siena, Italy
    J Hum Genet 52:1011-7. 2007
    ..Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized...
  10. ncbi Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008
    ..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse...
  11. ncbi Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case
    Manuela Priolo
    Clin Dysmorphol 13:45-6. 2004
    ..Diaphragmatic defects with associated pulmonary hypoplasia/agenesis and anophthalmia/microphthalmia have been reported as part of a complex syndromic phenotype. We report a case with the combination of these malformations...
  12. ncbi How wide is the ocular spectrum of Delleman syndrome?
    Maria Teresa Divizia
    Clin Dysmorphol 13:33-4. 2004
    ..We describe a patient with cerebral and cutaneous features typical of oculocerebrocutaneous syndrome. The ocular anomalies observed have not been previously reported in patients affected with this syndrome...