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Items: 1 to 20 of 88

1.

RTTN mutations link primary cilia function to organization of the human cerebral cortex.

Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM.

Am J Hum Genet. 2012 Sep 7;91(3):533-40. doi: 10.1016/j.ajhg.2012.07.008. Epub 2012 Aug 30.

2.

Expanding the phenotype of RTTN varations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.

Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Del Giudice EM, Perrone L, Nigro V.

Clin Genet. 2016 Mar 4. doi: 10.1111/cge.12771. [Epub ahead of print]

PMID:
26940245
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.

4.

Ana3 is a conserved protein required for the structural integrity of centrioles and basal bodies.

Stevens NR, Dobbelaere J, Wainman A, Gergely F, Raff JW.

J Cell Biol. 2009 Nov 2;187(3):355-63. doi: 10.1083/jcb.200905031. Epub 2009 Oct 26.

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.

6.

Developmental roles of p73 in Cajal-Retzius cells and cortical patterning.

Meyer G, Cabrera Socorro A, Perez Garcia CG, Martinez Millan L, Walker N, Caput D.

J Neurosci. 2004 Nov 3;24(44):9878-87.

7.

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.

8.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E.

Eur J Hum Genet. 2012 Sep;20(9):995-8. doi: 10.1038/ejhg.2012.21. Epub 2012 Feb 15.

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10.

Different origins and developmental histories of transient neurons in the marginal zone of the fetal and neonatal rat cortex.

Meyer G, Soria JM, Martínez-Galán JR, Martín-Clemente B, Fairén A.

J Comp Neurol. 1998 Aug 10;397(4):493-518.

PMID:
9699912
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12.

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR.

Hum Mol Genet. 2013 Oct 15;22(20):4053-63. doi: 10.1093/hmg/ddt255. Epub 2013 May 31.

13.

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.

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15.

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB.

Am J Med Genet A. 2011 Sep;155A(9):2071-7. doi: 10.1002/ajmg.a.34165. Epub 2011 Aug 10.

16.

Building a human cortex: the evolutionary differentiation of Cajal-Retzius cells and the cortical hem.

Meyer G.

J Anat. 2010 Oct;217(4):334-43. doi: 10.1111/j.1469-7580.2010.01266.x. Review.

17.

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.

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Cajal-Retzius cells in the mouse: transcription factors, neurotransmitters, and birthdays suggest a pallial origin.

Hevner RF, Neogi T, Englund C, Daza RA, Fink A.

Brain Res Dev Brain Res. 2003 Mar 14;141(1-2):39-53.

PMID:
12644247
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