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

Rubinstein-Taybi Syndrome Medicine & Life Sciences
Induced Pluripotent Stem Cells Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Genotype Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Klinefelter Syndrome Medicine & Life Sciences

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Research Output 2018 2019

  • 24 Citations
  • 2 h-Index
  • 7 Article

Klinefelter Syndrome in preschool children: the importance of an early multidisciplinary approach for patients and families

Rigamonti, C., Vizziello, P., Monti, F., Dall'ara, F., Ajmone, P. F., Giavoli, C., Silibello, G. & Lalatta, F., Oct 1 2019, In : Minerva Pediatrica. 71, 5, p. 395-403 9 p.

Research output: Contribution to journalArticle

Klinefelter Syndrome
Preschool Children
Parents
Emotions
Language
12 Citations (Scopus)

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A. M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M. & 23 others, Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., van Balkom, I. D. C. & Hennekam, R. C., 2018, In : Nature Reviews Genetics. 19, 10, p. 649-666 18 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Consensus
Molecular Pathology
Long-Term Care
Upper Extremity
2 Citations (Scopus)

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

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 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

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