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Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
Am J Med Genet B Neuropsychiatr Genet. 2021 Jul;186(5):289-317. doi: 10.1002/ajmg.b.32869. Epub 2021 Jul 24.
Am J Med Genet B Neuropsychiatr Genet. 2021.
PMID: 34302426
Review.
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
Kasher PR, Namavar Y, van Tijn P, Fluiter K, Sizarov A, Kamermans M, Grierson AJ, Zivkovic D, Baas F.
Kasher PR, et al. Among authors: namavar y.
Hum Mol Genet. 2011 Apr 15;20(8):1574-84. doi: 10.1093/hmg/ddr034. Epub 2011 Jan 27.
Hum Mol Genet. 2011.
PMID: 21273289
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TSEN54 mutations cause pontocerebellar hypoplasia type 5.
Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F.
Namavar Y, et al.
Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2.
Eur J Hum Genet. 2011.
PMID: 21368912
Free PMC article.
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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT.
Namavar Y, et al.
Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.
Brain. 2011.
PMID: 20952379
Free PMC article.
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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Poll-The BT, Baas F.
Namavar Y, et al.
Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50.
Orphanet J Rare Dis. 2011.
PMID: 21749694
Free PMC article.
Review.
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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.
Budde BS, et al. Among authors: namavar y.
Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.
Nat Genet. 2008.
PMID: 18711368
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Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB.
Graham JM Jr, et al. Among authors: namavar y.
Am J Med Genet A. 2010 Sep;152A(9):2268-76. doi: 10.1002/ajmg.a.33579.
Am J Med Genet A. 2010.
PMID: 20803644
Free PMC article.
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Comment to: Deep brain stimulation for refractory obsessive-compulsive disorder (OCD): emerging or established therapy?
van Wingen G, Bergfeld I, de Koning P, Graat I, Luigjes J, Mocking R, Namavar Y, Ooms P, van Rooijen G, Vulink N, Mantione M, Figee M, Denys D.
van Wingen G, et al. Among authors: namavar y.
Mol Psychiatry. 2022 Mar;27(3):1276-1277. doi: 10.1038/s41380-021-01411-8. Epub 2022 Jan 7.
Mol Psychiatry. 2022.
PMID: 34992236
No abstract available.
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