If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where giulietta scuvera is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 8 Similar Profiles
Basal Cell Nevus Syndrome Medicine & Life Sciences
Legg-Calve-Perthes Disease Medicine & Life Sciences
Recessive Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Frameshift Mutation Medicine & Life Sciences
Neurofibromatosis 1 Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Phenotype Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2018 2019

  • 5 Citations
  • 2 h-Index
  • 7 Article

Unexpected phenotype in a frameshift mutation of PTCH1

Beltrami, B., Prada, E., Tolva, G., Scuvera, G., Silipigni, R., Graziani, D., Bulfamante, G., Gervasini, C., Marchisio, P. & Milani, D., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e987.

Research output: Contribution to journalArticle

Open Access
Basal Cell Nevus Syndrome
Frameshift Mutation
Phenotype
Megalencephaly
Odontogenic Cysts
1 Citation (Scopus)

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

Paganini, L., Pesenti, C., Milani, D., Fontana, L., Motta, S., Sirchia, S. M., Scuvera, G., Marchisio, P., Esposito, S., Cinnante, C. M., Tabano, S. M. & Miozzo, M. R., 2018, In : American Journal of Medical Genetics, Part A. 176, 6, p. 1427-1431

Research output: Contribution to journalArticle

Recessive Genes
Inheritance Patterns
Exons
Aniridia
Exome

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

Ciaccio, C., Scuvera, G., Tucci, A., Gentilin, B., Baccarin, M., Marchisio, P., Avignone, S. & Milani, D., 2018, In : Cytogenetic and Genome Research. 156, 3, p. 127-133

Research output: Contribution to journalArticle

Megalencephaly
Phenotype
Muscle Hypotonia
Olfactory Bulb
Genetic Association Studies
2 Citations (Scopus)

Perthes disease: A new finding in Floating-Harbor syndrome

Milani, D., Scuvera, G., Gatti, M., Tolva, G., Bonarrigo, F., Esposito, S. & Gervasini, C., Mar 1 2018, In : American Journal of Medical Genetics, Part A. 176, 3, p. 703-706 4 p.

Research output: Contribution to journalArticle

Legg-Calve-Perthes Disease
Genetic Databases
Mutation
Rubinstein-Taybi Syndrome
Hallux