• 1006 Citations
  • 8 h-Index
1990 …2017
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Fingerprint Dive into the research topics where Patrizia Ronchetto is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Cystic Fibrosis Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Cystic Fibrosis Transmembrane Conductance Regulator Medicine & Life Sciences
Proto-Oncogenes Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 1990 2017

  • 1006 Citations
  • 8 h-Index
  • 23 Article

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome

Tassano, E., Giacomini, T., Severino, M., Gamucci, A., Fiorio, P., Gimelli, G. & Ronchetto, P., 2017, In : Cytogenetic and Genome Research. 152, 1, p. 22-28 7 p.

Research output: Contribution to journalArticle

Phenotype
Neurofibromatosis 1
Intellectual Disability
Genes
NF1 Microdeletion Syndrome
6 Citations (Scopus)
Cytogenetics
Intellectual Disability
Language
Genetic Association Studies
Genes
4 Citations (Scopus)
Ring Chromosomes
Microcephaly
Chromosomes, Human, Pair 2
Chromosomes
Renal Insufficiency
2 Citations (Scopus)

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

Tassano, E., Accogli, A., Panigada, S., Ronchetto, P., Cuoco, C. & Gimelli, G., Jul 21 2014, In : Molecular Cytogenetics. 7, 1, 49.

Research output: Contribution to journalArticle

Genes
Phenotype
Chromosomes
Brain
Chromosome Deletion
15 Citations (Scopus)

RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability

Baglietto, M. G., Caridi, G., Gimelli, G., Mancardi, M., Prato, G., Ronchetto, P., Cuoco, C. & Tassano, E., Jan 2014, In : European Journal of Medical Genetics. 57, 1, p. 44-46 3 p.

Research output: Contribution to journalArticle

Intellectual Disability
Epilepsy
Ligand-Gated Ion Channels
Partial Epilepsy
Genetic Association Studies