• 10246 Citations
  • 47 h-Index
1990 …2019
If you made any changes in Pure these will be visible here soon.

Research Output 1990 2019

Filter
Review article
2019

Copy number variants in autism spectrum disorders

Vicari, S., Napoli, E., Cordeddu, V., Menghini, D., Alesi, V., Loddo, S., Novelli, A. & Tartaglia, M., Feb 20 2019, In : Progress in Neuro-Psychopharmacology and Biological Psychiatry. 92, p. 421-427 7 p.

Research output: Contribution to journalReview article

Genomic Structural Variation
Comparative Genomic Hybridization
Human Genome
Single Nucleotide Polymorphism
Autism Spectrum Disorder
Epilepsy
Seizures
Phenotype
Microcephaly
Mutation
2018

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., May 3 2018, In : Clinical Genetics.

Research output: Contribution to journalReview article

Signal Transduction
Polydactyly
Inborn Genetic Diseases
Congenital Heart Defects
Cilia

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

Calcagni, G., Adorisio, R., Martinelli, S., Grutter, G., Baban, A., Versacci, P., Digilio, M. C., Drago, F., Gelb, B. D., Tartaglia, M. & Marino, B., Apr 2018, In : Heart Failure Clinics. 14, 2, p. 225-235 11 p.

Research output: Contribution to journalReview article

Hypertrophic Cardiomyopathy
Heart Failure
Congenital Heart Defects
Sirolimus
Mutation
2017
7 Citations (Scopus)

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

Calcagni, G., Unolt, M., Digilio, M. C., Baban, A., Versacci, P., Tartaglia, M., Baldini, A. & Marino, B., Sep 2 2017, In : Expert Review of Molecular Diagnostics. 17, 9, p. 861-870 10 p.

Research output: Contribution to journalReview article

Congenital Heart Defects
Heart Diseases
Genotype
Noonan Syndrome
Phenotype