• 29 Citations
  • 4 h-Index
20172019
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Fingerprint Dive into the research topics where Antonio Pizzuti is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Exome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Magnetic Resonance Imaging Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Canidae Medicine & Life Sciences
Gingival Overgrowth Medicine & Life Sciences
Eph Family Receptors Medicine & Life Sciences

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Research Output 2017 2019

  • 29 Citations
  • 4 h-Index
  • 12 Article
  • 1 Review article

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Mitogen-Activated Protein Kinases
Mutation
Noonan Syndrome
Mutant Proteins
Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype
Hereditary Spastic Paraplegia
Mutation
Brain
Magnetic Resonance Imaging
Phenotype

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

Traversa, A., Bernardo, S., Paiardini, A., Giovannetti, A., Marchionni, E., Genovesi, M. L., Guadagnolo, D., Torres, B., Paolacci, S., Bernardini, L., Mazza, T., Carella, M., Caputo, V. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e1054.

Research output: Contribution to journalArticle

Open Access