• 8966 Citations
  • 49 h-Index
1989 …2019
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Research Output 1989 2019

  • 8966 Citations
  • 49 h-Index
  • 346 Article
  • 10 Chapter
  • 5 Review article
  • 1 Letter
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Review article
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

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

Unolt, M., Versacci, P., Anaclerio, S., Lambiase, C., Calcagni, G., Trezzi, M., Carotti, A., Crowley, T. B., Zackai, E. H., Goldmuntz, E., Gaynor, J. W., Digilio, M. C., McDonald-McGinn, D. M. & Marino, B., Oct 2018, In : American Journal of Medical Genetics, Part A. 176, 10, p. 2087-2098 12 p.

Research output: Contribution to journalReview article

Cardiovascular Abnormalities
DiGeorge Syndrome
Congenital Heart Defects
Heart Diseases
Premature Mortality

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1

Schirwani, S., Novelli, A., Digilio, M. C., Bourn, D., Wilson, V., Roberts, C., Dallapiccola, B. & Hobson, E., Jul 23 2018, In : European Journal of Medical Genetics.

Research output: Contribution to journalReview article

Genes
X Chromosome Inactivation
Simpson-Golabi-Behmel syndrome
Congenital Heart Defects
Hernia
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