7 results for author:"Prontera P." in Literature citations
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| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Micale L., Augello B., Fusco C., Selicorni A., Loviglio M.N., Silengo M.C., Reymond A., Gumiero B., Zucchetti F., D'Addetta E.V. et al. Orphanet J Rare Dis 6:38-38(2011) · Mapped (5) |
| A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. Castrioto A., Prontera P., Di Gregorio E., Rossi V., Parnetti L., Rossi A., Donti E., Brusco A., Calabresi P., Tambasco N. Eur. J. Neurol. 18:1263-1265(2011) · Mapped (8) |
| Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. Prontera P., Pantaleoni F., Martinelli S., Mastrodicasa E., Stangoni G., Barboni G., Tartaglia M., Aversa F., Donti E. Leuk. Res. 35:e13-4(2011) · Mapped (6) |
| A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. Prontera P., Ferrando B., Giuliani V., Falcinelli F., Mencarelli A., Rogaia D., Pasini B., Donti E. Genet. Couns. 19:413-418(2008) · Mapped (2) |
| An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology. Prontera P., Escande F., Cocchi G., Donti E., Martini A., Sensi A. Genet. Couns. 19:397-402(2008) · Mapped (4) |
| FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? Prontera P., Sensi A., Pilu G., Baldi M., Baffico M., Bonasoni R., Calzolari E. Genet. Couns. 17:407-412(2006) · Mapped (10) |
| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Bicknell L.S., Farrington-Rock C., Shafeghati Y., Rump P., Alanay Y., Alembik Y., Al-Madani N., Firth H., Karimi-Nejad M.H., Kim C.A. et al. |