Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Francesca Atzeri"'
Publikováno v:
Medico e Bambino. 42:123-124
The case of a 2.6-year-old boy with lypotimia after the ingestion of a herbal product is described. The diagnosis of fructose intolerance based on genetic test was eventually made.
Autor:
Angelo Selicorni, A. Cesarani, E. Filipponi, Stefania Barozzi, Marta Cerutti, F. Di Berardino, Francesca Atzeri
Publikováno v:
American journal of medical genetics. Part A. (2)
Since the first description of Kabuki syndrome (KS) in 1981, over 350 cases from a variety of countries have been reported. Even though otolaryngological manifestations are common in KS, only a limited number of the reports provide audiological and v
Autor:
Isabella Vasta, Bruno Dallapiccola, Francesca Atzeri, Cinzia Neri, Marco Tartaglia, Francesca Pantaleoni, Angelica Bibiana Delogu, Cheryl Cytrynbaum, Giovanni Neri, Emma De Feo, Andrea Ballabio, Anna Sarkozy, Angelo Selicorni, Claudio Carta, Gilda Cobellis, Edgar A. Pogna, Bruce D. Gelb, Katherine A. Rauen, Rosanna Weksberg, Giuseppe Zampino
Activating mutations in v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) have recently been identified as the molecular cause underlying Costello syndrome (CS). To further investigate the phenotypic spectrum associated with germline HRAS mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3f2bf0f7519fc10b5f700cf06d72c48
http://hdl.handle.net/11591/407171
http://hdl.handle.net/11591/407171
Autor:
Angelo Selicorni, Lidia Larizza, Cristina Gervasini, Francesca Atzeri, L. Giordano, Federica Mottadelli, Francesca Faravelli, Maria Teresa Divizia, Paola Castronovo, Stefano Manzini, Patrizia Colapietro, Donatella Milani, Maria Francesca Bedeschi, Giovanni Neri, Angela Bentivegna, Maria L Giovannucci Uzielli
Publikováno v:
BMC Medical Genetics, Vol 7, Iss 1, p 77 (2006)
BMC Medical Genetics
BMC Medical Genetics
BackgroundRubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS