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

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Noonan Syndrome Medicine & Life Sciences
Proteus Syndrome Medicine & Life Sciences
Wolf-Hirschhorn Syndrome Medicine & Life Sciences
Glypicans Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Branched Chain Amino Acids Medicine & Life Sciences
Therapeutic Uses Medicine & Life Sciences

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Research Output 2018 2019

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

Knerr, I., Colombo, R., Urquhart, J., Morais, A., Merinero, B., Oyarzabal, A., Pérez, B., Jones, S. A., Perveen, R., Preece, M. A., Rogers, Y., Treacy, E. P., Mayne, P., Zampino, G., MacKinnon, S., Wassmer, E., Yue, W. W., Robinson, I., Rodríguez-Pombo, P., Olpin, S. E. & 1 others, Banka, S., Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 809-817 9 p.

Research output: Contribution to journalArticle

Branched Chain Amino Acids
Transferases
Maple Syrup Urine Disease
Keto Acids
Protein-Restricted Diet

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

Leoni, C., Gullo, G., Resta, N., Fagotti, A., Onesimo, R., Schwartz, B., Kazakin, J., Abbadessa, G., Crown, J., Collins, C. D., Ranieri, C., Scambia, G. & Zampino, G., Jul 2019, In : American journal of medical genetics. Part A. 179, 7, p. 1319-1324 6 p.

Research output: Contribution to journalArticle

Proteus Syndrome
Therapeutic Uses
Carcinoma
Rare Diseases
Mutation

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

Leoni, C., Triumbari, E. K. A., Vollono, C., Onesimo, R., Podagrosi, M., Giorgio, V., Kuczynska, E., Veltri, S., Tartaglia, M. & Zampino, G., Jun 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 940-947 8 p.

Research output: Contribution to journalArticle

Pain
Chronic Pain
Acute Pain
Costello Syndrome
Noonan Syndrome

Pathogenic Variants in GPC4 Cause Keipert Syndrome

Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M. & 10 others, Reardon, W., Shaw-Smith, C., Leventer, R. J., Delatycki, M. B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N. J. & Lockhart, P. J., Apr 5 2019, In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Glypicans
Mouth Abnormalities
Craniofacial Abnormalities
Developmental Bone Disease
Hypertelorism

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

Gazzin, A., Carli, D., Sirchia, F., Molinatto, C., Cardaropoli, S., Palumbo, G., Zampino, G., Ferrero, G. B. & Mussa, A., Sep 2019, In : American journal of medical genetics. Part A. 179, 9, p. 1691-1702 12 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Phenotype
Health
Sertoli Cell Tumor
Macroglossia