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Year | Number of Results |
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2008 | 1 |
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PubMed (cited) for id: 614969
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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16.
Nat Genet. 2017.
PMID: 28092684
Free PMC article.
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.
Siriwardena K, Al-Maawali A, Guerin A, Blaser S, Chitayat D.
Siriwardena K, et al.
Am J Med Genet A. 2013 Jul;161A(7):1714-7. doi: 10.1002/ajmg.a.35945. Epub 2013 May 17.
Am J Med Genet A. 2013.
PMID: 23686794
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Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?
Anderson C, Davies JH, Lamont L, Foulds N.
Anderson C, et al.
Am J Med Genet A. 2011 Apr;155A(4):667-72. doi: 10.1002/ajmg.a.33897. Epub 2011 Mar 15.
Am J Med Genet A. 2011.
PMID: 21594990
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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.
Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.
Nat Genet. 2008.
PMID: 18711368
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XY sex reversal and a nonprogressive neurologic disorder: a new syndrome?
Mahbubul Huq AH, Nigro MA.
Mahbubul Huq AH, et al.
Pediatr Neurol. 2000 Oct;23(4):357-60. doi: 10.1016/s0887-8994(00)00200-9.
Pediatr Neurol. 2000.
PMID: 11068172
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