Teresa Mattina

Summary

Affiliation: University of Catania
Country: Italy

Publications

  1. pmc Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
    Vincenza Barresi
    Laboratorio sui Sistemi Complessi, Scuola Superiore di Catania, University of Catania, Catania, Italy
    BMC Med Genomics 3:28. 2010
  2. doi request reprint Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation
    Teresa Mattina
    Medical Genetics University of Catania, Department of Pediatrics Building 4, Via Santa Sofia 78, 95123 Catania, Italy
    Eur J Med Genet 55:747-52. 2012
  3. 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
  4. pmc Jacobsen syndrome
    Teresa Mattina
    Genetica Medica, Department of Pediatrics, University of Catania, Catania, Italy
    Orphanet J Rare Dis 4:9. 2009
  5. ncbi request reprint Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes
    Simona D'Antoni
    Dipartimento di Pediatria, University of Catania, Via S Sofia 78, Catania I 95123, Italy
    Gene 333:111-9. 2004

Collaborators

  • Corrado Romano
  • Daniele F Condorelli
  • Lucia Micale
  • Vincenza Barresi
  • Simona D'Antoni
  • Paolo Prontera
  • Maurizio Clementi
  • Maria C Digilio
  • Alessandra Renieri
  • Licia Turolla
  • Gioacchino Scarano
  • Manuela Priolo
  • Federica Zucchetti
  • Alessandra Vancini
  • Alessia Calcagnì
  • Alexandre Reymond
  • Giuseppe Merla
  • Benedetta Toschi
  • Matteo Della Monica
  • Ester V D'Addetta
  • Barbara Gumiero
  • Elga Belligni
  • Elisabetta Lapi
  • Maria A Mencarelli
  • Bruno Dallapiccola
  • Angelo Selicorni
  • Maria G Patricelli
  • Francesca Faravelli
  • Livia Garavelli
  • Adriana Zatterale
  • Maria N Loviglio
  • Sofia Douzgou
  • Francesca Forzano
  • Daniela Melis
  • Leopoldo Zelante
  • Carmela Fusco
  • Cecilia Daolio
  • Bartolomeo Augello
  • Maria Accadia
  • Rita Fischetto
  • Orazio Gabrielli
  • Aldo Bonfante
  • Paola Ferrari
  • Margherita Cirillo Silengo
  • Nicolò Musso
  • Guido Cocchi
  • Angela Ragusa
  • Giancarlo Rappazzo
  • Lucia Castiglia
  • Salvatore Travali
  • Marco Fichera
  • Salvatore Saccone
  • Concetta Federico
  • Salvatore Motta
  • Patrizia Di Mare

Detail Information

Publications5

  1. pmc Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
    Vincenza Barresi
    Laboratorio sui Sistemi Complessi, Scuola Superiore di Catania, University of Catania, Catania, Italy
    BMC Med Genomics 3:28. 2010
    ..In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels of approximately 8500 transcripts between ATRX and normal males of comparable age...
  2. doi request reprint Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation
    Teresa Mattina
    Medical Genetics University of Catania, Department of Pediatrics Building 4, Via Santa Sofia 78, 95123 Catania, Italy
    Eur J Med Genet 55:747-52. 2012
    ....
  3. 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...
  4. pmc Jacobsen syndrome
    Teresa Mattina
    Genetica Medica, Department of Pediatrics, University of Catania, Catania, Italy
    Orphanet J Rare Dis 4:9. 2009
    ..For patients who survive the neonatal period and infancy, the life expectancy remains unknown...
  5. ncbi request reprint Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes
    Simona D'Antoni
    Dipartimento di Pediatria, University of Catania, Via S Sofia 78, Catania I 95123, Italy
    Gene 333:111-9. 2004
    ..We propose that the alteration in the replication/nuclear location pattern of the non-deleted TDR22 indicates an altered gene regulation hence an altered transcritpion in DGS/VCFS...