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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: bellacchio e. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682970
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.
Callea M, Bellacchio E, Cammarata Scalisi F, El Feghaly J, El-Ghandour RK, Avendaño A, Yavuz Y, Diociaiuti A, Digilio MC, DI Stazio M, Novelli A, Oranges T, Filippeschi C, Pisaneschi E, Jilani H, Gigola F, Willoughby CE, Morabito A. Callea M, et al. Among authors: bellacchio e. Ital J Dermatol Venerol. 2023 Feb;158(1):32-38. doi: 10.23736/S2784-8671.23.07540-0. Ital J Dermatol Venerol. 2023. PMID: 36939501 Free article.
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
Sinibaldi L, De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B. Sinibaldi L, et al. Among authors: bellacchio e. Hum Mutat. 2004 Dec;24(6):534-5. doi: 10.1002/humu.9292. Hum Mutat. 2004. PMID: 15532024
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: bellacchio e. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Among authors: bellacchio e. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.
Mutation screening of the DYT6/THAP1 gene in Italy.
Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, Valente EM. Bonetti M, et al. Among authors: bellacchio e. Mov Disord. 2009 Dec 15;24(16):2424-7. doi: 10.1002/mds.22861. Mov Disord. 2009. PMID: 19908325
123 results