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    Tiziano Pramparo

    TitleAssistant Researcher
    SchoolUniversity of California, San Diego
    DepartmentNeurosciences
    Address9500 Gilman Drive #0217
    CA La Jolla 92093
    Phone858-534-6905
    vCardDownload vCard

      Collapse Bibliographic 
      Collapse Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Lombardo MV, Courchesne E, Lewis NE, Pramparo T. Hierarchical cortical transcriptome disorganization in autism. Mol Autism. 2017; 8:29. PMID: 28649314.
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      2. Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci. 2017 Aug; 20(8):1043-1051. PMID: 28628100.
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      3. Lombardo MV, Moon HM, Su J, Palmer TD, Courchesne E, Pramparo T. Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder. Mol Psychiatry. 2017 Mar 21. PMID: 28322282.
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      4. Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Feb 13. PMID: 28191889.
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      5. Pramparo T, Lombardo MV, Campbell K, Barnes CC, Marinero S, Solso S, Young J, Mayo M, Dale A, Ahrens-Barbeau C, Murray SS, Lopez L, Lewis N, Pierce K, Courchesne E. Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers. Mol Syst Biol. 2015; 11(12):841. PMID: 26668231.
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      6. Pramparo T, Pierce K, Lombardo MV, Carter Barnes C, Marinero S, Ahrens-Barbeau C, Murray SS, Lopez L, Xu R, Courchesne E. Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices. JAMA Psychiatry. 2015 Apr 1; 72(4):386-94. PMID: 25739104.
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      7. Chow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L, Fan JB, Murray S, April C, Belinson H, Fu XD, Wynshaw-Boris A, Schork NJ, Courchesne E. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. PLoS Genet. 2012; 8(3):e1002592. PMID: 22457638.
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      8. Pramparo T, Libiger O, Jain S, Li H, Youn YH, Hirotsune S, Schork NJ, Wynshaw-Boris A. Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects. PLoS Genet. 2011 Mar; 7(3):e1001331. PMID: 21423666.
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      9. Jheon AH, Mostowfi P, Snead ML, Ihrie RA, Sone E, Pramparo T, Attardi LD, Klein OD. PERP regulates enamel formation via effects on cell-cell adhesion and gene expression. J Cell Sci. 2011 Mar 1; 124(Pt 5):745-54. PMID: 21285247.
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      10. Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S. Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies. Semin Cell Dev Biol. 2010 Oct; 21(8):823-30. PMID: 20688183.
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      11. Pramparo T, Youn YH, Yingling J, Hirotsune S, Wynshaw-Boris A. Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction. J Neurosci. 2010 Feb 24; 30(8):3002-12. PMID: 20181597.
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      12. Youn YH, Pramparo T, Hirotsune S, Wynshaw-Boris A. Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice. J Neurosci. 2009 Dec 9; 29(49):15520-30. PMID: 20007476.
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      13. van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet. 2010 Feb; 18(2):163-70. PMID: 19809484.
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      14. Rizzolio F, Pramparo T, Sala C, Zuffardi O, De Santis L, Rabellotti E, Calzi F, Fusi F, Bellazzi R, Toniolo D. Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome. J Med Genet. 2009 Sep; 46(9):585-92. PMID: 18628312.
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      15. Pramparo T, de Gregori M, Gimelli S, Ciccone R, Frondizi D, Liehr T, Pellacani S, Masi G, Brovedani P, Zuffardi O, Guerrini R. A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A. 2008 Jul 1; 146A(13):1754-60. PMID: 18546282.
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      16. Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur J Hum Genet. 2008 Aug; 16(8):880-7. PMID: 18337728.
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      17. Yingling J, Youn YH, Darling D, Toyo-Oka K, Pramparo T, Hirotsune S, Wynshaw-Boris A. Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division. Cell. 2008 Feb 8; 132(3):474-86. PMID: 18267077.
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      18. Della Porta MG, Malcovati L, Rigolin GM, Rosti V, Bonetti E, Travaglino E, Boveri E, Gallì A, Boggi S, Ciccone M, Pramparo T, Mazzini G, Invernizzi R, Lazzarino M, Cazzola M. Immunophenotypic, cytogenetic and functional characterization of circulating endothelial cells in myelodysplastic syndromes. Leukemia. 2008 Mar; 22(3):530-7. PMID: 18094717.
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      19. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007 Dec; 44(12):750-62. PMID: 17766364.
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      20. Caselli R, Speciale C, Pescucci C, Uliana V, Sampieri K, Bruttini M, Longo I, De Francesco S, Pramparo T, Zuffardi O, Frezzotti R, Acquaviva A, Hadjistilianou T, Renieri A, Mari F. Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH. J Hum Genet. 2007; 52(6):535-42. PMID: 17502991.
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      21. Giorda R, Ciccone R, Gimelli G, Pramparo T, Beri S, Bonaglia MC, Giglio S, Genuardi M, Argente J, Rocchi M, Zuffardi O. Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat. 2007 May; 28(5):459-68. PMID: 17262805.
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      22. 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. PMID: 17265046.
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      23. Zahed L, Pramparo T, Farra C, Mikati M, Zuffardi O. A patient with duplication (7)(p22.1pter) characterized by array-CGH. Am J Med Genet A. 2007 Jan 15; 143(2):168-71. PMID: 17163527.
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      24. Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Eur J Hum Genet. 2007 Jan; 15(1):62-7. PMID: 17075606.
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      25. Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Eur J Hum Genet. 2007 Jan; 15(1):76-80. PMID: 17063144.
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      26. Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O. Subtelomeric trisomy 21q: a new benign chromosomal variant. Eur J Med Genet. 2007 Jan-Feb; 50(1):54-9. PMID: 17055792.
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      27. Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R. Periventricular heterotopia in fragile X syndrome. Neurology. 2006 Aug 22; 67(4):713-5. PMID: 16924033.
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      28. Ciccone R, Mattina T, Giorda R, Bonaglia MC, Rocchi M, Pramparo T, Zuffardi O. Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. J Med Genet. 2006 May; 43(5):e19. PMID: 16648372.
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      29. 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. PMID: 16497693.
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      30. De Gregori M, Pramparo T, Memo L, Gimelli G, Messa J, Rocchi M, Patricelli MG, Ciccone R, Giorda R, Zuffardi O. Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement? Hum Genet. 2005 Nov; 118(2):207-13. PMID: 16133173.
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      31. Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet. 2006 Oct; 43(10):822-8. PMID: 16284256.
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      32. Pramparo T, Grosso S, Messa J, Zatterale A, Bonaglia MC, Chessa L, Balestri P, Rocchi M, Zuffardi O, Giorda R. Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy. Hum Genet. 2005 Oct; 118(1):76-81. PMID: 16001262.
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      33. Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A. 2005 Aug 30; 137(2):190-8. PMID: 16059943.
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      34. Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Reciprocal translocations: a trap for cytogenetists? Hum Genet. 2005 Oct; 117(6):571-82. PMID: 16041583.
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      35. Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O. Narrowing the deleted region associated with the 15q21 syndrome. Eur J Med Genet. 2005 Jul-Sep; 48(3):346-52. PMID: 16179230.
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      36. Bonaglia MC, Giorda R, Tenconi R, Pessina M, Pramparo T, Borgatti R, Zuffardi O. A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype. Eur J Hum Genet. 2005 May; 13(5):586-91. PMID: 15657611.
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      37. Rossi E, de Gregori M, Grazia Patricelli M, Pramparo T, Argentiero L, Giglio S, Sosta K, Foresti G, Zuffardi O. 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. Am J Med Genet A. 2005 Mar 1; 133A(2):189-92. PMID: 15669096.
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      38. 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. PMID: 15280899.
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      39. Pramparo T, Giglio S, Gregato G, de Gregori M, Patricelli MG, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O. Inverted duplications: how many of them are mosaic? Eur J Hum Genet. 2004 Sep; 12(9):713-7. PMID: 15266302.
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      40. Giorda R, Cerritello A, Bonaglia MC, Bova S, Lanzi G, Repetti E, Giglio S, Baschirotto C, Pramparo T, Avolio L, Bragheri R, Maraschio P, Zuffardi O. Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J Med Genet. 2004 Jun; 41(6):e71. PMID: 15173237.
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      41. Pramparo T, Gregato G, De Gregori M, Friso A, Clementi M, Ardenghi P, Rocchi M, Zuffardi O, Tenconi R. Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. Am J Med Genet A. 2003 Nov 15; 123A(1):79-83. PMID: 14556251.
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      42. Vitelli F, Viola A, Morishima M, Pramparo T, Baldini A, Lindsay E. TBX1 is required for inner ear morphogenesis. Hum Mol Genet. 2003 Aug 15; 12(16):2041-8. PMID: 12913075.
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      43. Bonaglia MC, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, Zuffardi O. Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism? J Med Genet. 2003 Aug; 40(8):e94. PMID: 12920086.
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      44. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001 Mar 1; 410(6824):97-101. PMID: 11242049.
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      45. Manzoni MF, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo R. A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY. Clin Genet. 2000 May; 57(5):406-8. PMID: 10852378.
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