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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2003 1
2008 2
2010 4
2011 1
2012 4
2013 4
2014 4
2015 4
2016 2
2017 2
2018 2
2019 2
2020 1
2025 0

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PubMed for Bookshelf ID: 4228782

29 results

Results by year

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Page 1
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Cardoso C, et al. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Am J Hum Genet. 2003. PMID: 12621583 Free PMC article.
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J. Bahi-Buisson N, et al. J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728072
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Tischfield MA, et al. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011. Cell. 2010. PMID: 20074521 Free PMC article.
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J. Poirier K, et al. Hum Mol Genet. 2010 Nov 15;19(22):4462-73. doi: 10.1093/hmg/ddq377. Epub 2010 Sep 9. Hum Mol Genet. 2010. PMID: 20829227 Free PMC article.
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.
Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Régal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W. Jansen AC, et al. Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5. Neurology. 2011. PMID: 21403111
29 results