• 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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Chapter
2014

Genetics of ebstein anomaly

Digilio, M. C., Silvestri, L. M., Dallapiccola, B. & Marino, B., Feb 1 2014, The Tricuspid Valve in Congenital Heart Disease. Springer-Verlag Italia s.r.l., p. 25-30 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ebstein Anomaly
Congenital Heart Defects
Teratogens
Tricuspid Valve
Cytogenetic Analysis
2013

Genetics of structural congenital heart defects

Digilio, M. C., Dallapiccola, B. & Marino, B., 2013, New Insight in Pediatric Cardiology: From Basic to Therapeutics. Bentham Science Publishers Ltd., p. 3-25 23 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Congenital Heart Defects
Ventricular Heart Septal Defects
Molecular Biology
Heart Diseases
Pathologic Constriction
2012
1 Citation (Scopus)

Genetics

Digilio, M. C., Dallapiccola, B. & Marino, B., Aug 1 2012, The Right Ventricle in Adults with Tetralogy of Fallot. Springer-Verlag Italia s.r.l., Vol. 9788847023581. p. 27-37 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Congenital Heart Defects
Genes
2009
5 Citations (Scopus)

Genotype-phenotype correlations in Noonan syndrome

Sarkozy, A., Digilio, M. C., Marino, B. & Dallapiccola, B., 2009, Monographs in Human Genetics. Vol. 17. p. 40-54 15 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

Noonan Syndrome
Genetic Association Studies
Mutation
Intellectual Disability
LEOPARD Syndrome
11 Citations (Scopus)

LEOPARD syndrome: Clinical aspects and molecular pathogenesis

Sarkozy, A., Digilio, M. C., Zampino, G., Dallapiccola, B., Tartaglia, M. & Gelb, B. D., 2009, Monographs in Human Genetics. Vol. 17. p. 55-65 11 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

LEOPARD Syndrome
Noonan Syndrome
Lentigo
Protein Kinases
Mutation
1 Citation (Scopus)

Lisu: Limiti superabili. Indagine sulla qualità di vita delle persone con sindrome di down nel comune di roma riflessioni su un censimento

Translated title of the contribution: Lisu: Limits surmountable. Survey on the quality of life of people with Down syndrome in the Municipality of Rome reflections on a censusLuchino, F., Bertoli, M., Calignano, M. T., Celani, G., de Grossi, G., Digilio, M. C., Fermariello, C., Iraci, G., Loffredo, G., Marchese, A., Mazotti, S., Pierannunzio, D., Menghi, B., Razzano, E., Tiano, C., Volpe, R., Zambon, A. S. & Zampino, G., 2009, Quaderni ACP. 5 ed. Vol. 16. p. 194-202 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Censuses
Down Syndrome
Quality of Life
Population
Privacy
12 Citations (Scopus)

The heart in Ras-MAPK pathway disorders

Digilio, M. C., Marino, B., Sarkozy, A., Versacci, P. & Dallapiccola, B., 2009, Monographs in Human Genetics. Vol. 17. p. 109-118 10 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

Noonan Syndrome
Pulmonary Valve Stenosis
Hypertrophic Cardiomyopathy
Mutation
Congenital Heart Defects
2007

Atrioventricular Canal Defect: Anatomical and Genetic Characteristics

Marino, B., Digilio, M. C., Mileto, F., Conti, E. & Dallapiccola, B., Nov 16 2007, Cardiovascular Development and Congenital Malformations: Molecular & Genetic Mechanisms. Blackwell Publishing Ltd, p. 244-247 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Familial Recurrence Risks of Congenital Heart Defects

Digilio, M. C., Marino, B., Capolino, R., Sarkozy, A. & Dallapiccola, B., Nov 16 2007, Cardiovascular Development and Congenital Malformations: Molecular & Genetic Mechanisms. Blackwell Publishing Ltd, p. 232-234 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2005
7 Citations (Scopus)

Congenital cardiovascular disease and velo-cardio-facial syndrome

Marino, B., Mileto, F., Digilio, M. C., Carotti, A. & Di Donato, R., Jan 1 2005, Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders. Cambridge University Press, p. 47-82 36 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

DiGeorge Syndrome
Congenital Heart Defects
Cardiovascular Diseases
Chromosome Deletion
Down Syndrome