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Items: 1 to 20 of 92

1.

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Valence S, Poirier K, Lebrun N, Saillour Y, Sonigo P, Bessières B, Attié-Bitach T, Benachi A, Masson C, Encha-Razavi F, Chelly J, Bahi-Buisson N.

Neurogenetics. 2013 Nov;14(3-4):215-24. doi: 10.1007/s10048-013-0373-x. Epub 2013 Sep 27.

PMID:
24072599
2.

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium., Beldjord C, Chelly J.

Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082.

PMID:
24860126
3.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT.

Brain. 2013 Feb;136(Pt 2):536-48. doi: 10.1093/brain/aws338. Epub 2013 Jan 29.

PMID:
23361065
4.

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, Bassi MT, Borgatti R.

Dev Med Child Neurol. 2012 Aug;54(8):765-9. doi: 10.1111/j.1469-8749.2012.04316.x. Epub 2012 May 16.

5.

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J.

Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7.

PMID:
20929962
6.

Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis.

Im K, Paldino MJ, Poduri A, Sporns O, Grant PE.

Neuroimage. 2014 Feb 1;86:182-93. doi: 10.1016/j.neuroimage.2013.08.011. Epub 2013 Aug 15.

PMID:
23954485
7.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N.

Eur J Hum Genet. 2013 Apr;21(4):381-5. doi: 10.1038/ejhg.2012.195. Epub 2012 Sep 5.

8.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.

Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293.

9.

Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M.

Brain Dev. 2014 Jun;36(6):528-31. doi: 10.1016/j.braindev.2013.07.015. Epub 2013 Aug 24.

PMID:
23981349
10.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.

Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69.

11.

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

Saillour Y, Broix L, Bruel-Jungerman E, Lebrun N, Muraca G, Rucci J, Poirier K, Belvindrah R, Francis F, Chelly J.

Hum Mol Genet. 2014 Mar 15;23(6):1516-26. doi: 10.1093/hmg/ddt538. Epub 2013 Oct 30.

PMID:
24179174
12.

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.

Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5.

PMID:
21403111
13.

Polymicrogyria: a common and heterogeneous malformation of cortical development.

Stutterd CA, Leventer RJ.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):227-39. doi: 10.1002/ajmg.c.31399. Epub 2014 May 28. Review.

PMID:
24888723
14.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ.

Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub 2010 Aug 19.

15.

GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.

Desai NA, Udani V.

J Child Neurol. 2015 Nov;30(13):1819-23. doi: 10.1177/0883073815583335. Epub 2015 Apr 28.

PMID:
25922261
16.

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E.

Am J Hum Genet. 2009 Nov;85(5):737-44. doi: 10.1016/j.ajhg.2009.10.007. Epub 2009 Nov 5.

17.

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.

Hum Mol Genet. 2010 Nov 15;19(22):4462-73. doi: 10.1093/hmg/ddq377. Epub 2010 Sep 9.

18.

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J.

Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24.

19.

A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

Luo R, Yang HM, Jin Z, Halley DJ, Chang BS, MacPherson L, Brueton L, Piao X.

Pediatr Neurol. 2011 Jul;45(1):49-53. doi: 10.1016/j.pediatrneurol.2011.02.004.

20.

Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

Santos-Silva R, Passas A, Rocha C, Figueiredo R, Mendes-Ribeiro J, Fernandes S, Biskup S, Leão M.

Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2.

PMID:
25642806

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