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PUBBLICAZIONI

 

Parolo S, Lisa A, Gentilini D, Di Blasio AM, Barlera S, Nicolis EB, Boncoraglio GB, Parati EA, Bione S. Characterization of the biological processes  shaping the genetic structure of the Italian population. BMC Genet. 2015; 16(1):132. 

 

Bluher A, Devan WJ, Holliday EG, Nalls M, Parolo S, Bione S, Giese AK, Boncoraglio GB, Maguire JM, Müller-Nurasyid M, Gieger C, Meschia JF, Rosand J, Rolfs A, Kittner SJ, Mitchell BD, O'Connell JR, Cheng YC. Heritability of young-  and old-onset ischaemic stroke. Eur J Neurol. 2015; 22(11):1488-91.

 

Cremaschi P, Oliverio M, Leva V, Bione S, Carriero R, Mazzucco G, Palamidessi  A, Scita G, Biamonti G, Montecucco A. Chronic Replication Problems Impact Cell Morphology and Adhesion of DNA Ligase I Defective Cells. PLoS One. 2015; 10(7):e0130561.

 

Cremaschi P, Carriero R, Astrologo S, Colì C, Lisa A, Parolo S, Bione S. An Association Rule Mining Approach to Discover lncRNAs Expression Patterns in Cancer Datasets. Biomed Res Int. 2015; 2015:146250.

 

Cremaschi P, Rovida S, Sacchi L, Lisa A, Montecucco A, Biamonti G, Bione S, Sacchi G. CorrelaGenes: a new tool for the interpretation of the human transcriptome. BMC Bioinformatics. 2014; 15(S1):S6.

 

Bonomi M, Somigliana E, Cacciatore C, Busnelli M, Rossetti R, Bonetti S, Paffoni A, Mari D, Ragni G, Persani L; the Italian Network for the study of Ovarian Dysfunctions. Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging. PLoS One. 2012;7(8):e42423.

 

Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, Rasheed A, Zeginigg M, Attia J, Baker R, Barlera S, Biffi A, Bookman E, Brott TG, Brown RD Jr, Chen F, Chen WM, Ciusani E, Cole JW, Cortellini L, Danesh J, Doheny K, Ferrucci L, Grazia Franzosi M, Frossard P, Furie KL, Golledge J, Hankey GJ, Hernandez D, Holliday EG, Hsu FC, Jannes J, Kamal A, Khan MS, Kittner SJ, Koblar SA, Lewis M, Lincz L, Lisa A, Matarin M, Moscato P, Mychaleckyj JC, Parati EA, Parolo S, Pugh E, Rost NS, Schallert M, Schmidt H, Scott RJ, Sturm JW, Yadav S, Zaidi M, Boncoraglio GB, Levi CR, Meschia JF, Rosand J, Sale M, Saleheen D, Schmidt R, Sharma P, Worrall B, Mitchell BD; GARNET Collaborative Research Group; GENEVA Consortium; International Stroke Genetics Consortium. Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke? Stroke. 2012 Apr;43(4):980-6. Epub 2012 Feb 23.

 

Ostano P, Bione S, Belgiovine C, Chiodi I, Ghimenti C, Scovassi AI, Chiorino G, Mondello C. Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation. OMICS. 2012 Jan-Feb;16(1-2):24-36.

 

Sorice R, Bione S, Sansanelli S, Ulivi S, Athanasakis E, Lanzara C, Nutile T, Sala C, Camaschella C, D'Adamo P, Gasparini P, Ciullo M, Toniolo D. Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet. 2011 Jan 19. [Epub ahead of print]
 


 

Traglia M, Sala C, Masciullo C, Cverhova V, Lori F, Pistis G, Bione S, Gasparini P, Ulivi S, Ciullo M, Nutile T, Bosi E, Sirtori M, Mignogna G, Rubinacci A, Buetti I, Camaschella C, Petretto E, Toniolo D. Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS One. 2009 Oct 22;4(10):e7554.
 


 

Corre T, Schuettler J, Bione S, Marozzi A, Persani L, Rossetti R, Torricelli F, Giotti I, Vogt P, Toniolo D; Italian Network for the study of Ovarian Dysfunctions. A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. Hum Reprod. 2009 Aug;24(8):2023-8. 
 


 

Rossetti R, Di Pasquale E, Marozzi A, Bione S, Toniolo D, Grammatico P, Nelson LM, Beck-Peccoz P, Persani L. BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat. 2009 May;30(5):804-10.
 


 

Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, Toniolo D, Bione S, Peluso J, Dahl N. Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet. 2008 Dec 1;17(23):3776-83
 


 

Sala C, Ciullo M, Lanzara C, Nutile T, Bione S, Massacane R, D'Adamo P, Gasparini P, Toniolo D, Camaschella C. Variation of hemoglobin levels in normal Italian populations from genetic isolates. Haematologica. 2008 Sep;93(9):1372-5.
 


 

Rizzolio F, Bione S, Sala C, Tribioli C, Ciccone R, Zuffardi O, di Iorgi N, Maghnie M, Toniolo D. Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? PLoS One. 2008 Jan 23;3(1):e1460.
 


 

Cattaneo F, Molatore S, Mihalatos M, Apessos A, Venesio T, Bione S, Grignani P, Nasioulas G, Ranzani GN. Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. Genet Med. 2007 Dec;9(12):836-41.



 

Gallardo TD, John GB, Bradshaw K, Welt C, Reijo-Pera R, Vogt PH, Touraine P, Bione S, Toniolo D, Nelson LM, Zinn AR, Castrillon DH. Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. Hum Reprod. 2008 Jan;23(1):216-21.



 

Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, Goegan M, Pramparo T, Zuffardi O, Toniolo D. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet. 2007 May;121(3-4):441-50. 

 



Rizzolio F, Bione S, Villa A, Berti E, Cassetti A, Bulfone A, Tribioli C, Toniolo D. Spatial and temporal expression of POF1B, a gene expressed in epithelia. Gene Expr Patterns. 2007 Feb;7(4):529-34. 



 

Bione S, Benedetti S, Goegan M, Menditto I, Marozzi A, Ferrari M, Toniolo D. Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am J Med Genet A. 2006 Jun 15;140(12):1349-51.



 

Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, Rossi E, Pramparo T, Zuffardi O, Toniolo D. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod. 2006 Jun;21(6):1477-83. 



 

Bodega B, Bione S, Dalprà L, Toniolo D, Ornaghi F, Vegetti W, Ginelli E, Marozzi A. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod. 2006 Apr;21(4):952-7.



 

Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalprà L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, Torricelli F, Zuffardi O, Toniolo D. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod. 2004 Dec;19(12):2759-66.

 



Rossetti F, Rizzolio F, Pramparo T, Sala C, Bione S, Bernardi F, Goegan M, Zuffardi O, Toniolo D. A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur J Hum Genet. 2004 Oct;12(10):829-34.



 

Vohanka S, Vytopil M, Bednarik J, Lukas Z, Kadanka Z, Schildberger J, Ricotti R, Bione S, Toniolo D. A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. Neuromuscul Disord. 2001 May;11(4):411-3.

 



Bione S, Toniolo D. X chromosome genes and premature ovarian failure. Semin Reprod Med. 2000;18(1):51-7. Review.

 



Di Blasi C, Morandi L, Raffaele di Barletta M, Bione S, Bernasconi P, Cerletti M, Bono R, Blasevich F, Toniolo D, Mora M. Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2000 Dec;10(8):567-71.



 

Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000 Apr;66(4):1407-12.



 

Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar;62(3):533-41.



 

D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet. 1997 Oct;61(4):862-7.



 

Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol. 1997 Aug;42(2):249-53.



 

Zollo M, Mazzarella R, Bione S, Toniolo D, Schlessinger D, D'Urso M, Chen EY. Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28. DNA Seq. 1995;6(1):1-11.



 

Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996 Apr;12(4):385-9.



 

Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet. 1995 Oct;4(10):1859-63.



 

Tribioli C, Droetto S, Bione S, Cesareni G, Torrisi MR, Lotti LV, Lanfrancone L, Toniolo D, Pelicci P. An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):695-9.

 

Maestrini E, Tamagnone L, Longati P, Cremona O, Gulisano M, Bione S, Tamanini F, Neel BG, Toniolo D, Comoglio PM. A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):674-8.



 

Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G, Rivella S, Toniolo D. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc Natl Acad Sci U S A. 1993 Dec 1;90(23):10977-81.



 

Notarangelo LD, Mantuano E, Bione S, Gimbo E, Giliani S, Caraffini A, Purtilo D, Farr C, Ugazio AG, Toniolo D. Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. Immunodeficiency. 1993;4(1-4):225-9. 



 

Tribioli C, Mancini M, Plassart E, Bione S, Rivella S, Sala C, Torri G, Toniolo D. Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. Hum Mol Genet. 1994 Jul;3(7):1061-7.



 

Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4):323-7.



 

Rivella S, Tamanini F, Bione S, Mancini M, Herman G, Chatterjee A, Maestrini E, Toniolo D. A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics. 1995 Aug 10;28(3):377-82.



 

Tribioli C, Tamanini F, Patrosso C, Milanesi L, Villa A, Pergolizzi R, Maestrini E, Rivella S, Bione S, Mancini M, et al. Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. Nucleic Acids Res. 1992 Feb 25;20(4):727-33.

 

 

 


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