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Page 1
Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study).
Cotellessa M, Minicucci L, Diana MC, Prigione F, Di Febbraro L, Gagliardini R, Manca A, Battistini F, Taccetti G, Magazzù G, Padoan R, Pizzamiglio G, Raia V, Iapichino L, Cardella F, Grinzich G, Lucidi V, Tuccio G, Bignamini E, Salvatore D, Lorini R. Cotellessa M, et al. Among authors: diana mc. J Pediatr Endocrinol Metab. 2000 Sep-Oct;13(8):1087-93. doi: 10.1515/jpem.2000.13.8.1087. J Pediatr Endocrinol Metab. 2000. PMID: 11085186
Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution.
Rendine S, Calafell F, Cappello N, Gagliardini R, Caramia G, Rigillo N, Silvetti M, Zanda M, Miano A, Battistini F, Marianelli L, Taccetti G, Diana MC, Romano L, Romano C, Giunta A, Padoan R, Pianaroli A, Raia V, De Ritis G, Battistini A, Grzincich G, Japichino L, Pardo F, Piazza A, et al. Rendine S, et al. Among authors: diana mc. Ann Hum Genet. 1997 Sep;61(Pt 5):411-24. doi: 10.1046/j.1469-1809.1997.6150411.x. Ann Hum Genet. 1997. PMID: 9459003
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Among authors: diana mc. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M, Schiavetti I, Madia F, Chelleri C, Piccolo G, Accogli A, Riva A, Salpietro V, Bocciardi R, Morcaldi G, Di Duca M, Caroli F, Verrico A, Milanaccio C, Viglizzo G, Traverso M, Baldassari S, Scudieri P, Iacomino M, Piatelli G, Minetti C, Striano P, Garrè ML, De Marco P, Diana MC, Capra V, Pavanello M, Zara F. Scala M, et al. Among authors: diana mc. Cancers (Basel). 2021 Apr 14;13(8):1879. doi: 10.3390/cancers13081879. Cancers (Basel). 2021. PMID: 33919865 Free PMC article.
Sudden death in an infant revealing atypical Kawasaki disease.
Diana MC, Villa G, Gattorno M, Ottonello G, Costabel S, Savioli C, DiPietro P. Diana MC, et al. Pediatr Emerg Care. 2006 Jan;22(1):35-7. doi: 10.1097/01.pec.0000195757.74328.68. Pediatr Emerg Care. 2006. PMID: 16418610
Clinical and molecular consequences of exon 78 deletion in DMD gene.
Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C. Traverso M, et al. Among authors: diana mc. J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556034
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
41 results