Teresa Mattina

Summary

Affiliation: University of Catania
Country: Italy

Publications

  1. ncbi 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. ncbi 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. 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
  4. ncbi Jacobsen syndrome
    Teresa Mattina
    Genetica Medica, Department of Pediatrics, University of Catania, Catania, Italy
    Orphanet J Rare Dis 4:9. 2009
  5. ncbi Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes
    Teresa Mattina
    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
  • Maria G Patricelli
  • Angelo Selicorni
  • Francesca Forzano
  • Daniela Melis
  • Carmela Fusco
  • Licia Turolla
  • Leopoldo Zelante
  • Aldo Bonfante
  • Alexandre Reymond
  • Giuseppe Merla
  • Gioacchino Scarano
  • Paola Ferrari
  • Maria A Mencarelli
  • Bruno Dallapiccola
  • Matteo Della Monica
  • Livia Garavelli
  • Maurizio Clementi
  • Benedetta Toschi
  • Maria C Digilio
  • Bartolomeo Augello
  • Alessandra Renieri
  • Alessia Calcagnì
  • Adriana Zatterale
  • Maria N Loviglio
  • Maria Accadia
  • Cecilia Daolio
  • Manuela Priolo
  • Alessandra Vancini
  • Sofia Douzgou
  • Elisabetta Lapi
  • Elga Belligni
  • Barbara Gumiero
  • Paolo Prontera
  • Federica Zucchetti
  • Francesca Faravelli
  • Rita Fischetto
  • Orazio Gabrielli
  • Margherita Cirillo Silengo
  • Ester V D'Addetta
  • Marco Fichera
  • Angela Ragusa
  • Nicolò Musso
  • Lucia Castiglia
  • Guido Cocchi
  • Giancarlo Rappazzo
  • Salvatore Travali

Detail Information

Publications5

  1. ncbi 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. ncbi 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. 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...
  4. ncbi 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 Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes
    Teresa Mattina
    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...