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Teresa

Teresa Mattina


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Clinica Geneticist

Age: 74 years old

Education

medical degree University Catania 1970-1976

Specialization in Pediatrics 1979

Specialization in genetics !988

 

Experience

Associate professor Medical Genetics

Director of the School of specialization in Medical Genetics

Director of the HUB regional centre for rare genetic disorders in Sicily

Publications

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807373/

Jacobsen syndrome - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670819/

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050515/

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/m/pubmed/7603564/?i=33&from=mattina%20t

Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura. - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/m/pubmed/8882392/?i=31&from=mattina%20t

Clinical and molecular characterization of patients with distal 11q deletions. - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/m/pubmed/7887422/?i=34&from=mattina%20t

The 11q terminal deletion disorder: a prospective study of 110 cases. - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/m/pubmed/15266616/?i=23&from=mattina%20t

Dysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion. - jacobsen-syndrome - https://www.ncbi.nlm.nih.gov/m/pubmed/8639871/?i=30&from=mattina%20t

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