Concepedia

Author

Teresa Mattina

University of CataniaORCID

Also Known As

Anna Maruani, Hester Y. Kroes, Lorenzo Malatino, Petia S Dimova, T Mattina, T. Mattina, Teresa Mattina

112

Publications

3.6K

Citations

27

H-Index

82

Concepts

All Affiliations

University of CataniaIstituti di Ricovero e Cura a Carattere ScientificoUniversity of PaviaCasa Sollievo della SofferenzaOasi Maria SS
TM

About

Teresa Mattina is an author at University of Catania specializing in medicine, genetics, and pathology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

16

19

989

2

Public Health

3

3

107

3

Education

1

1

16

4

Social Sciences

1

1

343

5

Cell Biology

1

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170

Teresa Mattina

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46

Publications

2.8K

Citations

24

H-Index

YearCitations

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini,

Journal of Medical Genetics

2007

354

The 11q terminal deletion disorder: A prospective study of 110 cases

Paul Grossfeld, Teresa Mattina, Zona Lai,

American Journal of Medical Genetics Part A

2004

343

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak,

Genetics in Medicine

2018

218

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Melanie M. Hagleitner, Arjan C. Lankester, P Maraschio,

Journal of Medical Genetics

2007

215

Clinical and molecular characterization of patients with distal 11q deletions.

Laura A. Penny, Marie L. Dell’Aquila, Marilyn C. Jones,

PubMed

1995

182

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

Christopher T. Jones, Lucas Penny, Teresa Mattina,

Nature

1995

170

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

Elena Rossi, Mariluce Riegel, Jole Messa,

Journal of Medical Genetics

2007

155

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

Maoqing Ye, Chris D. Coldren, Xingqun Liang,

Human Molecular Genetics

2009

152

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco,

Orphanet Journal of Rare Diseases

2011

98

Familial 18q12.2 deletion supports the role of RNA‐binding protein CELF4 in autism spectrum disorders

Rita Barone, Marco Fichera, Mariaclara De Grandi,

American Journal of Medical Genetics Part A

2017

63

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