• 8997 Citations
  • 49 h-Index
1989 …2019
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Fingerprint Dive into the research topics where Maria Cristina Digilio is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 33 Similar Profiles
Congenital Heart Defects Medicine & Life Sciences
DiGeorge Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Noonan Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
LEOPARD Syndrome Medicine & Life Sciences
Down Syndrome Medicine & Life Sciences

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Research Output 1989 2019

  • 8997 Citations
  • 49 h-Index
  • 347 Article
  • 10 Chapter
  • 5 Review article
  • 1 Letter

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., 2019, In : Clinical Genetics. 95, 2, p. 268-276 9 p.

Research output: Contribution to journalArticle

Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

Kragesteen, B. K., Brancati, F., Digilio, M. C., Mundlos, S. & Spielmann, M., Apr 2019, In : Journal of Medical Genetics. 56, 4, p. 246-251 6 p.

Research output: Contribution to journalArticle

Clustered Regularly Interspaced Short Palindromic Repeats
Forelimb
Genomic Structural Variation
Extremities
Housekeeping

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Mastromoro, G., Calcagni, G., Versacci, P., Putotto, C., Chinali, M., Lambiase, C., Unolt, M., Pelliccione, E., Anaclerio, S., Caprio, C., Cioffi, S., Bilio, M., Baban, A., Drago, F., Digilio, M. C., Marino, B. & Baldini, A., Apr 1 2019, In : PLoS One. 14, 4, p. e0211170

Research output: Contribution to journalArticle

DiGeorge Syndrome
pulmonary artery
Pulmonary Artery
Defects
mice