• 6009 Citations
  • 40 h-Index
1969 …2018
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  • 22 Similar Profiles
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences

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Research Output 1969 2018

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 06 Biological Sciences 0604 Genetics

Bestetti, I., Sironi, A., Catusi, I., Mariani, M., Giardino, D., Manoukian, S., Milani, D., Larizza, L., Castronovo, C. & Finelli, P., Sep 19 2018, In : Molecular Cytogenetics. 11, 1, 53.

Research output: Contribution to journalReview article

Mosaicism
Biological Science Disciplines
Blood
Phenotype
Interphase
3 Citations

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Bonomi, M., Vezzoli, V., Krausz, C., Guizzardi, F., Vezzani, S., Simoni, M., Bassi, I., Duminuco, P., Di Iorgi, N., Giavoli, C., Pizzocaro, A., Russo, G., Moro, M., Fatti, L., Ferlin, A., Mazzanti, L., Zatelli, M. C., Cannavò, S., Isidori, A. M., Pincelli, A. I. & 31 othersProdam, F., Mancini, A., Maghnie, M., Persani, L., Arosio, M., Balsamo, A., Beck-Peccoz, P., Bizzarri, C., Boschetti, M., Brunani, A., Brunelli, V., Cappa, M., Colombo, P., Corbetta, S., Corona, G., Di Iorgi, N., Fabbri, A., Ghezzi, M., Grosso, E., Grugni, G., Lania, A., Larizza, L., Lombardi, V., Mantovani, G., Mencarelli, M. A., Porcelli, P., Rossi, G., Sala, E., Spada, A., Weber, G. & on behalf of the Italian Network on Central Hypogonadism (NICe group), Jan 1 2018, In : European Journal of Endocrinology. 178, 1, p. 23-32 10 p.

Research output: Contribution to journalArticle

Hypogonadism
Kallmann Syndrome
Synkinesis
Smell
Christianity

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Alari, V., Russo, S., Terragni, B., Ajmone, P. F., Sironi, A., Catusi, I., Calzari, L., Concolino, D., Marotta, R., Milani, D., Giardino, D., Mantegazza, M., Gervasini, C., Finelli, P. & Larizza, L., Jul 1 2018, In : Stem Cell Research. 30, p. 130-140 11 p.

Research output: Contribution to journalArticle

Rubinstein-Taybi Syndrome
Induced Pluripotent Stem Cells
Neurons
Intellectual Disability
Thumb

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
4 Citations

Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib

Gupta, D., Chandrashekar, L., Larizza, L., Colombo, E. A., Fontana, L., Gervasini, C., Thappa, D. M., Rajappa, M., Rajendiran, K. S., Sreenath, G. S. & Kate, V., Feb 1 2017, In : International Journal of Dermatology. 56, 2, p. 195-201 7 p.

Research output: Contribution to journalArticle

Lentigo
Gastrointestinal Stromal Tumors
Siblings
Hyperpigmentation
Mutation