Università degli studi di Pavia

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Bione publications

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. Bione S, Toniolo D. X chromosome genes and premature ovarian failure. Semin Reprod Med. 2000;18(1):51-7. Review.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
  30. 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
  31. 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.
  32. 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.
  33. 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.
  34. 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 May;19(5):593-6.
 
 
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