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53 results

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Page 1
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Zhang F, et al. Among authors: weterman ma. Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493460 Free PMC article.
Understanding familial and non-familial renal cell cancer.
Bodmer D, van den Hurk W, van Groningen JJ, Eleveld MJ, Martens GJ, Weterman MA, van Kessel AG. Bodmer D, et al. Among authors: weterman ma. Hum Mol Genet. 2002 Oct 1;11(20):2489-98. doi: 10.1093/hmg/11.20.2489. Hum Mol Genet. 2002. PMID: 12351585 Review.
Phenotype of Charcot-Marie-Tooth disease Type 2.
Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M. Bienfait HM, et al. Among authors: weterman ma. Neurology. 2007 May 15;68(20):1658-67. doi: 10.1212/01.wnl.0000263479.97552.94. Neurology. 2007. PMID: 17502546
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: weterman ma. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F. Weterman MA, et al. Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888301 Free PMC article.
A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.
Aerts MB, Weterman MA, Quadri M, Schelhaas HJ, Bloem BR, Esselink RA, Baas F, Bonifati V, van de Warrenburg BP. Aerts MB, et al. Among authors: weterman ma. Ann Clin Transl Neurol. 2015 Dec 22;3(2):146-9. doi: 10.1002/acn3.281. eCollection 2016 Feb. Ann Clin Transl Neurol. 2015. PMID: 26900582 Free PMC article.
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