Teresa Mattina MD
Clinical Professor, University of Catania Medical School
Catania
Specialties and Interests
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Medical Genetics,
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Pediatrics
Education
Universities
Universita degli studi di Catania
MD, medical degree cum laude
Postgraduate Training
University Catania
University Catania
Memberships
European Cytogeneticists Association
Società Italiana Genetica Umana
Publications
Articles
"Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome."
"Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice."
"13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients."
"A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome."
"Narrowing the deleted region associated with the 15q21 syndrome."
"The 11q terminal deletion disorder: a prospective study of 110 cases."
"Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes."
"Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion."
Disclosure or Conflict of Interest
Teresa Mattina MD has nothing to disclose
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