• 43 Citations
  • 4 h-Index
20162019
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Fingerprint Dive into the research topics where Isabella Mammi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Neuroimaging Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genotype Medicine & Life Sciences
Chromosomes, Human, Pair 19 Medicine & Life Sciences
Brain Medicine & Life Sciences
Adenomatous Polyposis Coli Medicine & Life Sciences

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Research Output 2016 2019

  • 43 Citations
  • 4 h-Index
  • 9 Article
  • 1 Letter
1 Citation (Scopus)

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., Negrin, S., Mammi, I., Milani, D., Peron, A., Sartori, S., Toldo, I., Soli, F., Turolla, L., Stanzial, F., Benedicenti, F. & 4 others, Marino-Buslje, C., Tosatto, S. C. E., Murgia, A. & Leonardi, E., Jan 1 2019, In : Human Mutation. 40, 9, p. 1346 1363 p.

Research output: Contribution to journalArticle

Autistic Disorder
Intellectual Disability
Comorbidity
Genes
Exome

Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome

Galuppini, F., Opocher, E., Tabori, U., Mammi, I., Edwards, M., Campbell, B., Kelly, J., Viel, A., Quaia, M., Rivieri, F., D'Avella, D., Arcella, A., Giangaspero, F., Fassan, M. & Gardiman, M. P., Feb 1 2018, In : Neuropathology and Applied Neurobiology. 44, 2, p. 233-239 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome

Galuppini, F., Opocher, E., Tabori, U., Mammi, I., Edwards, M., Campbell, B., Kelly, J., Viel, A., Quaia, M., Rivieri, F., D'Avella, D., Arcella, A., Giangaspero, F., Fassan, M. & Gardiman, M. P., Feb 1 2018, In : Neuropathology and Applied Neurobiology. 44, 2, p. 233-239 7 p.

Research output: Contribution to journalLetter

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

Recalcati, M. P., Bonati, M. T., Beltrami, N., Cardarelli, L., Catusi, I., Costa, A., Garzo, M., Mammi, I., Mattina, T., Nalesso, E., Nardone, A. M., Postorivo, D., Sajeva, A., Varricchio, A., Verri, A., Villa, N., Larizza, L. & Giardino, D., Mar 1 2018, In : European Journal of Medical Genetics. 61, 3, p. 173-180 8 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 19
Genetic Association Studies
Genetic Markers
Cytogenetics
Phenotype

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G. & 60 others, Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, T. D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, J. E. K., Obersztyn, E., Pantaleoni, C., Pellicciari, A., Pisanti, M. A., Prpic, I., Poch-Olive, M. L., Raviglione, F., Renieri, A., Ricci, E., Rivieri, F., Santen, G. W., Savasta, S., Scarano, G., Schanze, I., Selicorni, A., Silengo, M., Smigiel, R., Spaccini, L., Sorge, G., Szczaluba, K., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zenker, M., Conidi, A., Zollino, M., Rauch, A., Zweier, C. & Garavelli, L., Sep 2018, In : Genetics in Medicine. 20, 9, p. 965-975 11 p.

Research output: Contribution to journalArticle

Genotype
Phenotype
Mutation
Genetic Association Studies
Natural History