Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 49

1.

Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes.

Lombardo MV, Pramparo T, Gazestani V, Warrier V, Bethlehem RAI, Carter Barnes C, Lopez L, Lewis NE, Eyler L, Pierce K, Courchesne E.

Nat Neurosci. 2018 Dec;21(12):1680-1688. doi: 10.1038/s41593-018-0281-3. Epub 2018 Nov 26.

PMID:
30482947
2.

Sex-specific impact of prenatal androgens on social brain default mode subsystems.

Lombardo MV, Auyeung B, Pramparo T, Quartier A, Courraud J, Holt RJ, Waldman J, Ruigrok ANV, Mooney N, Bethlehem RAI, Lai MC, Kundu P, Bullmore ET, Mandel JL, Piton A, Baron-Cohen S.

Mol Psychiatry. 2018 Aug 13. doi: 10.1038/s41380-018-0198-y. [Epub ahead of print]

PMID:
30104728
3.

The ASD Living Biology: from cell proliferation to clinical phenotype.

Courchesne E, Pramparo T, Gazestani VH, Lombardo MV, Pierce K, Lewis NE.

Mol Psychiatry. 2019 Jan;24(1):88-107. doi: 10.1038/s41380-018-0056-y. Epub 2018 Jun 22. Review.

4.

Hierarchical cortical transcriptome disorganization in autism.

Lombardo MV, Courchesne E, Lewis NE, Pramparo T.

Mol Autism. 2017 Jun 21;8:29. doi: 10.1186/s13229-017-0147-7. eCollection 2017.

5.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

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.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.

6.

Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder.

Lombardo MV, Moon HM, Su J, Palmer TD, Courchesne E, Pramparo T.

Mol Psychiatry. 2018 Apr;23(4):1001-1013. doi: 10.1038/mp.2017.15. Epub 2017 Mar 21.

7.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

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.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

8.

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.

Marchetto MC, Belinson H, Tian Y, Freitas BC, Fu C, Vadodaria K, Beltrao-Braga P, Trujillo CA, Mendes APD, Padmanabhan K, Nunez Y, Ou J, Ghosh H, Wright R, Brennand K, Pierce K, Eichenfield L, Pramparo T, Eyler L, Barnes CC, Courchesne E, Geschwind DH, Gage FH, Wynshaw-Boris A, Muotri AR.

Mol Psychiatry. 2017 Jun;22(6):820-835. doi: 10.1038/mp.2016.95. Epub 2016 Jul 5.

9.

Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers.

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.

Mol Syst Biol. 2015 Dec 14;11(12):841. doi: 10.15252/msb.20156108.

10.

Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.

Pramparo T, Pierce K, Lombardo MV, Carter Barnes C, Marinero S, Ahrens-Barbeau C, Murray SS, Lopez L, Xu R, Courchesne E.

JAMA Psychiatry. 2015 Apr;72(4):386-94. doi: 10.1001/jamapsychiatry.2014.3008.

PMID:
25739104
11.

Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.

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.

PLoS Genet. 2012;8(3):e1002592. doi: 10.1371/journal.pgen.1002592. Epub 2012 Mar 22.

12.

Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.

Pramparo T, Libiger O, Jain S, Li H, Youn YH, Hirotsune S, Schork NJ, Wynshaw-Boris A.

PLoS Genet. 2011 Mar;7(3):e1001331. doi: 10.1371/journal.pgen.1001331. Epub 2011 Mar 10.

13.

PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.

Jheon AH, Mostowfi P, Snead ML, Ihrie RA, Sone E, Pramparo T, Attardi LD, Klein OD.

J Cell Sci. 2011 Mar 1;124(Pt 5):745-54. doi: 10.1242/jcs.078071. Epub 2011 Feb 1.

14.

Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies.

Wynshaw-Boris A, Pramparo T, Youn YH, Hirotsune S.

Semin Cell Dev Biol. 2010 Oct;21(8):823-30. doi: 10.1016/j.semcdb.2010.07.008. Epub 2010 Aug 3. Review.

15.

Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction.

Pramparo T, Youn YH, Yingling J, Hirotsune S, Wynshaw-Boris A.

J Neurosci. 2010 Feb 24;30(8):3002-12. doi: 10.1523/JNEUROSCI.4851-09.2010.

16.

Distinct dose-dependent cortical neuronal migration and neurite extension defects in Lis1 and Ndel1 mutant mice.

Youn YH, Pramparo T, Hirotsune S, Wynshaw-Boris A.

J Neurosci. 2009 Dec 9;29(49):15520-30. doi: 10.1523/JNEUROSCI.4630-09.2009.

17.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

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.

Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Erratum in: Eur J Hum Genet. 2010 Oct;18(10):1171. Eur J Hum Genet. 2010 Feb;18(2):170. Moloney, Susan [added].

18.

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.

Rizzolio F, Pramparo T, Sala C, Zuffardi O, De Santis L, Rabellotti E, Calzi F, Fusi F, Bellazzi R, Toniolo D.

J Med Genet. 2009 Sep;46(9):585-92. doi: 10.1136/jmg.2007.056093. Epub 2008 Jul 15.

PMID:
18628312
19.

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

Pramparo T, de Gregori M, Gimelli S, Ciccone R, Frondizi D, Liehr T, Pellacani S, Masi G, Brovedani P, Zuffardi O, Guerrini R.

Am J Med Genet A. 2008 Jul 1;146A(13):1754-60. doi: 10.1002/ajmg.a.32326.

PMID:
18546282
20.

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O.

Eur J Hum Genet. 2008 Aug;16(8):880-7. doi: 10.1038/ejhg.2008.42. Epub 2008 Mar 12.

21.

Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division.

Yingling J, Youn YH, Darling D, Toyo-Oka K, Pramparo T, Hirotsune S, Wynshaw-Boris A.

Cell. 2008 Feb 8;132(3):474-86. doi: 10.1016/j.cell.2008.01.026.

22.

Immunophenotypic, cytogenetic and functional characterization of circulating endothelial cells in myelodysplastic syndromes.

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.

Leukemia. 2008 Mar;22(3):530-7. Epub 2007 Dec 20.

PMID:
18094717
23.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

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.

J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31.

24.

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

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.

J Hum Genet. 2007;52(6):535-42. Epub 2007 May 15.

PMID:
17502991
25.

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.

Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, Goegan M, Pramparo T, Zuffardi O, Toniolo D.

Hum Genet. 2007 May;121(3-4):441-50. Epub 2007 Jan 31.

PMID:
17265046
26.

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

Giorda R, Ciccone R, Gimelli G, Pramparo T, Beri S, Bonaglia MC, Giglio S, Genuardi M, Argente J, Rocchi M, Zuffardi O.

Hum Mutat. 2007 May;28(5):459-68.

PMID:
17262805
27.

A patient with duplication (7)(p22.1pter) characterized by array-CGH.

Zahed L, Pramparo T, Farra C, Mikati M, Zuffardi O.

Am J Med Genet A. 2007 Jan 15;143A(2):168-71.

PMID:
17163527
28.

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O.

Eur J Hum Genet. 2007 Jan;15(1):62-7. Epub 2006 Oct 31.

29.

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O.

Eur J Hum Genet. 2007 Jan;15(1):76-80. Epub 2006 Oct 25.

30.

Subtelomeric trisomy 21q: a new benign chromosomal variant.

Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O.

Eur J Med Genet. 2007 Jan-Feb;50(1):54-9. Epub 2006 Sep 10.

PMID:
17055792
31.

Periventricular heterotopia in fragile X syndrome.

Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R.

Neurology. 2006 Aug 22;67(4):713-5.

PMID:
16924033
32.

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

Ciccone R, Mattina T, Giorda R, Bonaglia MC, Rocchi M, Pramparo T, Zuffardi O.

J Med Genet. 2006 May;43(5):e19.

33.

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, Rossi E, Pramparo T, Zuffardi O, Toniolo D.

Hum Reprod. 2006 Jun;21(6):1477-83. Epub 2006 Feb 23.

PMID:
16497693
34.

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.

Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O.

J Med Genet. 2006 Oct;43(10):822-8. Epub 2005 Nov 11.

35.

Narrowing the deleted region associated with the 15q21 syndrome.

Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O.

Eur J Med Genet. 2005 Jul-Sep;48(3):346-52.

PMID:
16179230
36.

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

De Gregori M, Pramparo T, Memo L, Gimelli G, Messa J, Rocchi M, Patricelli MG, Ciccone R, Giorda R, Zuffardi O.

Hum Genet. 2005 Nov;118(2):207-13. Epub 2005 Nov 15.

PMID:
16133173
37.

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

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.

Am J Med Genet A. 2005 Aug 30;137(2):190-8.

PMID:
16059943
38.

Reciprocal translocations: a trap for cytogenetists?

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.

Hum Genet. 2005 Oct;117(6):571-82. Epub 2005 Jul 23.

PMID:
16041583
39.

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Pramparo T, Grosso S, Messa J, Zatterale A, Bonaglia MC, Chessa L, Balestri P, Rocchi M, Zuffardi O, Giorda R.

Hum Genet. 2005 Oct;118(1):76-81. Epub 2005 Oct 28.

PMID:
16001262
40.

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

Rossi E, de Gregori M, Grazia Patricelli M, Pramparo T, Argentiero L, Giglio S, Sosta K, Foresti G, Zuffardi O.

Am J Med Genet A. 2005 Mar 1;133A(2):189-92.

PMID:
15669096
41.

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

Bonaglia MC, Giorda R, Tenconi R, Pessina M, Pramparo T, Borgatti R, Zuffardi O.

Eur J Hum Genet. 2005 May;13(5):586-91.

42.

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.

Rossetti F, Rizzolio F, Pramparo T, Sala C, Bione S, Bernardi F, Goegan M, Zuffardi O, Toniolo D.

Eur J Hum Genet. 2004 Oct;12(10):829-34.

43.

Inverted duplications: how many of them are mosaic?

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.

Eur J Hum Genet. 2004 Sep;12(9):713-7.

44.

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.

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.

J Med Genet. 2004 Jun;41(6):e71. No abstract available.

45.

Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male.

Pramparo T, Gregato G, De Gregori M, Friso A, Clementi M, Ardenghi P, Rocchi M, Zuffardi O, Tenconi R.

Am J Med Genet A. 2003 Nov 15;123A(1):79-83.

PMID:
14556251
46.

Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

Bonaglia MC, Giorda R, Cavallini A, Pramparo T, Rocchi M, Borgatti R, Zuffardi O.

J Med Genet. 2003 Aug;40(8):e94. No abstract available.

47.

TBX1 is required for inner ear morphogenesis.

Vitelli F, Viola A, Morishima M, Pramparo T, Baldini A, Lindsay E.

Hum Mol Genet. 2003 Aug 15;12(16):2041-8.

PMID:
12913075
48.

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.

Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A.

Nature. 2001 Mar 1;410(6824):97-101.

PMID:
11242049
49.

A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.

Manzoni MF, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo R.

Clin Genet. 2000 May;57(5):406-8. No abstract available.

PMID:
10852378

Supplemental Content

Loading ...
Support Center