• 857 Citations
  • 13 h-Index
1989 …2018
If you made any changes in Pure these will be visible here soon.

Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 3 Similar Profiles
Electroencephalography Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Mutation Medicine & Life Sciences
Motor Skills Disorders Medicine & Life Sciences
Trisomy Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Wolf-Hirschhorn Syndrome Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences

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

Research Output 1989 2018

  • 857 Citations
  • 13 h-Index
  • 46 Article
  • 1 Conference contribution
1 Citations

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Trimouille, A., Houcinat, N., Vuillaume, M. L., Fergelot, P., Fergelot, P., Boucher, C., Toutain, J., Caignec, C. L., Vincent, M., Nizon, M., Andrieux, J., Vanlerberghe, C., Delobel, B., Duban, B., Mansour, S., Baple, E., McKeown, C., Poke, G., Robertshaw, K., Fifield, E. & 12 othersFabretto, A., Pecile, V., Gasparini, P., Gasparini, P., Carrozzi, M., Lacombe, D., Lacombe, D., Arveiler, B., Arveiler, B., Rooryck, C., Rooryck, C. & Moutton, S., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

Sotos Syndrome
Intellectual Disability
Chromosome Duplication
2 Citations

Adolescent admissions to emergency departments for self-injurious thoughts and behaviors

Zanus, C., Battistutta, S., Aliverti, R., Montico, M., Cremaschi, S., Ronfani, L., Monasta, L. & Carrozzi, M., Jan 1 2017, In : PLoS One. 12, 1, e0170979.

Research output: Contribution to journalArticle

Self-Injurious Behavior
Hospital Emergency Service
Public health
Medical problems

Atypical presentation of anti-N-methyl-D-aspartate receptor encephalitis: Two case reports

Maggio, M. C., Mastrangelo, G., Skabar, A., Ventura, A., Carrozzi, M., Santangelo, G., Vanadia, F., Corsello, G. & Cimaz, R., Aug 16 2017, In : Journal of Medical Case Reports. 11, 1

Research output: Contribution to journalArticle

Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Behavioral Symptoms
Juvenile Arthritis

Risk Factors and Outcomes of Thalidomide-induced Peripheral Neuropathy in a Pediatric Inflammatory Bowel Disease Cohort

Bramuzzo, M., Stocco, G., Montico, M., Arrigo, S., Calvi, A., Lanteri, P., Costa, S., Pellegrino, S., Magazzù, G., Barp, J., Ghione, S., Lionetti, P., Zuin, G., Fontana, M., Di Chio, T., Maggiore, G., Lazzerini, M., Lucafò, M., Udina, C., Pellegrin, M. C. & 7 othersChicco, A., Carrozzi, M., Decorti, G., Decorti, G., Ventura, A., Ventura, A. & Martelossi, S., Oct 1 2017, In : Inflammatory Bowel Diseases. 23, 10, p. 1810-1816 7 p.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
Inflammatory Bowel Diseases
Confidence Intervals

Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis

Abate, M. V., Stocco, G., Devescovi, R., Carrozzi, M., Pierobon, C., Valencic, E., Lucafò, M., Di Silvestre, A., D'Adamo, P., Tommasini, A., Decorti, G. & Ventura, A., Jul 1 2016, In : Blood cells, molecules & diseases. 59, p. 97-99 3 p.

Research output: Contribution to journalArticle