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

  • 10 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Neurofibromatosis 1 Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Genotype Medicine & Life Sciences
Genetic Databases Medicine & Life Sciences

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Research Output 1987 2020

Alazami syndrome: the first case of papillary thyroid carcinoma

Ivanovski, I., Caraffi, S. G., Magnani, E., Rosato, S., Pollazzon, M., Matalonga, L., Piana, S., Nicoli, D., Baldo, C., Bernasconi, S., Frasoldati, A., Zuffardi, O. & Garavelli, L., Jan 1 2020, In : Journal of Human Genetics. 65, 2, p. 133-141 9 p.

Research output: Contribution to journalArticle

Neoplasms
Exome
Thyroid Neoplasms
Genes
Stomach Neoplasms

Severe peripheral joint laxity is a distinctive clinical feature of spondylodysplastic-ehlersdanlos syndrome (Eds)-b4galt7 and spondylodysplastic-eds-b3galt6

Caraffi, S. G., Maini, I., Ivanovski, I., Pollazzon, M., Giangiobbe, S., Valli, M., Rossi, A., Sassi, S., Faccioli, S., Rocco, M. D., Magnani, C., Campos-Xavier, B., Unger, S., Superti-Furga, A. & Garavelli, L., Oct 2019, In : Genes. 10, 10, 799.

Research output: Contribution to journalArticle

Open Access
Joint Instability
Muscle Hypotonia
Forehead
Proteoglycans
Connective Tissue

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

Di Pisa, V., Provini, F., Ubertiello, S., Bonetti, S., Ricci, E., Ivanovski, I., Caraffi, S. G., Giordano, L., Accorsi, P., Savasta, S., Raviglione, F., Boni, A., Grioni, D., Graziano, C., Garavelli, L. & Cordelli, D. M., Jan 1 2019, In : Sleep Medicine.

Research output: Contribution to journalArticle

Sleep
Electroencephalography
Mowat-Wilson syndrome
Video Recording
Child Psychiatry

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

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 1 2018, In : Genetics in Medicine. 20, 9, p. 965-975 11 p.

Research output: Contribution to journalArticle

Genotype
Phenotype
Mutation
Natural History
Intellectual Disability