Affiliation: University of Catania
- Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndromeVincenza 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...
- Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlationTeresa 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....
- Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia 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...
- Jacobsen syndromeTeresa 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...
- Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromesTeresa 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...