• 857 Citations
  • 13 h-Index
1989 …2018
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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.

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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
Head
Phenotype
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
physicians

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
Arthritis
Chorea
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

Thalidomide
Peripheral Nervous System Diseases
Inflammatory Bowel Diseases
Pediatrics
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