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107 results

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Page 1
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: kyllerman m. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
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.
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: kyllerman m. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Poretti A, et al. Among authors: kyllerman m. Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. Orphanet J Rare Dis. 2012. PMID: 22236771 Free PMC article.
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. Orlén H, et al. Among authors: kyllerman m. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19194956
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, Doheny D, Fahn S, Fink JS, Forsgren L, Friedman J, Frucht S, Harris J, Holmgren G, Kis B, Kurlan R, Kyllerman M, Lang AE, Leung J, Raymond D, Robishaw JD, Sanner G, Schwinger E, Tabamo RE, Tagliati M. Klein C, et al. Among authors: kyllerman m. Am J Hum Genet. 2000 Nov;67(5):1314-9. Epub 2000 Oct 5. Am J Hum Genet. 2000. PMID: 11022010 Free PMC article.
X-linked myotubular myopathy: a linkage study.
Darnfors C, Larsson HE, Oldfors A, Kyllerman M, Gustavson KH, Bjursell G, Wahlström J. Darnfors C, et al. Among authors: kyllerman m. Clin Genet. 1990 May;37(5):335-40. doi: 10.1111/j.1399-0004.1990.tb03515.x. Clin Genet. 1990. PMID: 1972354
107 results