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Year Number of Results
2000 1
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2005 8
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2008 5
2009 3
2010 3
2011 2
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2017 5
2018 4
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58 results

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Page 1
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. Stessman HA, et al. Among authors: pramparo t. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
Sparsentan ameliorates glomerular hypercellularity and inflammatory-gene networks induced by IgA1-IgG immune complexes in a mouse model of IgA nephropathy.
Reily C, Moldoveanu Z, Pramparo T, Hall S, Huang ZQ, Rice T, Novak L, Komers R, Jenkinson CP, Novak J. Reily C, et al. Among authors: pramparo t. Am J Physiol Renal Physiol. 2024 May 1;326(5):F862-F875. doi: 10.1152/ajprenal.00253.2023. Epub 2024 Mar 21. Am J Physiol Renal Physiol. 2024. PMID: 38511222 Free PMC article.
The ASD Living Biology: from cell proliferation to clinical phenotype.
Courchesne E, Pramparo T, Gazestani VH, Lombardo MV, Pierce K, Lewis NE. Courchesne E, et al. Among authors: pramparo t. Mol Psychiatry. 2019 Jan;24(1):88-107. doi: 10.1038/s41380-018-0056-y. Epub 2018 Jun 22. Mol Psychiatry. 2019. PMID: 29934544 Free PMC article. Review.
Hierarchical cortical transcriptome disorganization in autism.
Lombardo MV, Courchesne E, Lewis NE, Pramparo T. Lombardo MV, et al. Among authors: pramparo t. Mol Autism. 2017 Jun 21;8:29. doi: 10.1186/s13229-017-0147-7. eCollection 2017. Mol Autism. 2017. PMID: 28649314 Free PMC article.
Atypical genomic cortical patterning in autism with poor early language outcome.
Lombardo MV, Eyler L, Pramparo T, Gazestani VH, Hagler DJ Jr, Chen CH, Dale AM, Seidlitz J, Bethlehem RAI, Bertelsen N, Barnes CC, Lopez L, Campbell K, Lewis NE, Pierce K, Courchesne E. Lombardo MV, et al. Among authors: pramparo t. Sci Adv. 2021 Sep 3;7(36):eabh1663. doi: 10.1126/sciadv.abh1663. Epub 2021 Sep 3. Sci Adv. 2021. PMID: 34516910 Free PMC article.
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. Ciccone R, et al. Among authors: pramparo t. Hum Genet. 2005 Oct;117(6):571-82. doi: 10.1007/s00439-005-1324-x. Epub 2005 Jul 23. Hum Genet. 2005. PMID: 16041583
58 results