• 114 Citations
  • 5 h-Index
20092018
If you made any changes in Pure these will be visible here soon.

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

  • 24 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Spastic Paraparesis Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
22q11 Deletion Syndrome Medicine & Life Sciences
Language Development Disorders Medicine & Life Sciences
CHARGE Syndrome Medicine & Life Sciences

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

Research Output 2009 2018

  • 114 Citations
  • 5 h-Index
  • 12 Article
Hereditary Spastic Paraplegia
Spastic Paraparesis
Recessive Genes
Mutation
Genes

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G. A. & Fichera, M., Aug 9 2016, (Accepted/In press) In : Genes and Genomics. p. 1-6 6 p.

Research output: Contribution to journalArticle

Neural Cell Adhesion Molecule L1
Assays
Genes
Mutation
Paraplegia
8 Citations (Scopus)

The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review

Scuderi, C., Borgione, E., Castello, F., Lo Giudice, M., Santa Paola, S., Giambirtone, M., Di Blasi, F. D., Elia, M., Amato, C., Città, S., Gagliano, C., Barbarino, G., Vitello, G. A. & Musumeci, S. A., Apr 1 2015, In : Neuromuscular Disorders. 25, 4, p. 333-339 7 p.

Research output: Contribution to journalArticle

Mutation
Muscular Diseases
Siblings
Exons
Genetic Association Studies
3 Citations (Scopus)

Carrier screening for spinal muscular atrophy in Italian population

Calì, F., Ruggeri, G., Chiavetta, V., Scuderi, C., Bianca, S., Barone, C., Ragalmuto, A., Schinocca, P., Vitello, G. A., Romano, V. & Musumeci, S., 2014, In : Journal of Genetics. 93, 1, p. 179-181 3 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Snijders Blok, C., Corsten-Janssen, N., Fitzpatrick, D. R., Romano, C., Fichera, M., Vitello, G. A., Willemsen, M. H., Schoots, J., Pfundt, R., van Ravenswaaij-Arts, C. M. A., Hoefsloot, L. & Kleefstra, T., Nov 1 2014, In : American Journal of Medical Genetics, Part A. 164, 11, p. 2843-2848 6 p.

Research output: Contribution to journalArticle

22q11 Deletion Syndrome
CHARGE Syndrome
Phenotype
Choanal Atresia
Olfactory Nerve