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Items: 1 to 20 of 78

1.

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC.

Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6.

2.

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

Kaçar Bayram A, Per H, Quon J, Canpolat M, Ülgen E, Doğan H, Gumus H, Kumandas S, Bayram N, Bilguvar K, Çağlayan AO.

Eur J Paediatr Neurol. 2015 Nov;19(6):743-6. doi: 10.1016/j.ejpn.2015.06.003. Epub 2015 Jul 9.

PMID:
26190014
3.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D.

Hum Mol Genet. 2015 Sep 15;24(18):5313-25. doi: 10.1093/hmg/ddv250. Epub 2015 Jun 30.

4.

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC.

J Clin Endocrinol Metab. 2015 Mar;100(3):E473-7. doi: 10.1210/jc.2014-4107. Epub 2015 Jan 5.

5.

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.

Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N.

Am J Hum Genet. 2015 Jan 8;96(1):147-52. doi: 10.1016/j.ajhg.2014.11.006. Epub 2014 Dec 11.

6.

Prosthetic replacement of the ocular surface ecosystem as treatment for ocular surface disease in patients with a history of Stevens-Johnson syndrome/toxic epidermal necrolysis.

Papakostas TD, Le HG, Chodosh J, Jacobs DS.

Ophthalmology. 2015 Feb;122(2):248-53. doi: 10.1016/j.ophtha.2014.08.015. Epub 2014 Oct 1.

PMID:
25282251
7.

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.

8.

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
9.

A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.

Ali Z, Xing C, Anwar D, Itani K, Weakley D, Gong X, Pascual JM, Mootha VV.

Mol Vis. 2014 Mar 28;20:368-75. eCollection 2014.

10.

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.

Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC.

Neuron. 2014 Apr 16;82(2):334-49. doi: 10.1016/j.neuron.2014.02.038. Epub 2014 Mar 20.

11.

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC.

Ophthalmology. 2014 Jul;121(7):1461-8. doi: 10.1016/j.ophtha.2014.01.006. Epub 2014 Mar 6.

12.

Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

Liu G, Chen X, Sun X, Liu H, Zhao K, Chang Q, Pan X, Wang X, Yuan S, Liu Q, Zhao C.

Mol Vis. 2014 Jan 6;20:15-23. eCollection 2014.

13.

CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor.

van der Vaart B, van Riel WE, Doodhi H, Kevenaar JT, Katrukha EA, Gumy L, Bouchet BP, Grigoriev I, Spangler SA, Yu KL, Wulf PS, Wu J, Lansbergen G, van Battum EY, Pasterkamp RJ, Mimori-Kiyosue Y, Demmers J, Olieric N, Maly IV, Hoogenraad CC, Akhmanova A.

Dev Cell. 2013 Oct 28;27(2):145-160. doi: 10.1016/j.devcel.2013.09.010. Epub 2013 Oct 10.

14.

Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.

Ying M, Han R, Hao P, Wang L, Li N.

BMC Med Genet. 2013 Jun 21;14:63. doi: 10.1186/1471-2350-14-63.

15.

Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.

Luk HM, Lo IF, Lai CW, Ma LC, Tong TM, Chan DH, Lam ST.

Hong Kong Med J. 2013 Apr;19(2):182-5.

16.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.

17.

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC.

Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21.

18.

Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Desai J, Velo MP, Yamada K, Overman LM, Engle EC.

Gene Expr Patterns. 2012 May-Jun;12(5-6):180-8. doi: 10.1016/j.gep.2012.03.003. Epub 2012 Mar 23.

19.

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.

Wang P, Li S, Xiao X, Guo X, Zhang Q.

Int J Mol Med. 2011 Dec;28(6):973-5. doi: 10.3892/ijmm.2011.759. Epub 2011 Jul 26.

PMID:
21805025
20.

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Tischfield MA, Cederquist GY, Gupta ML Jr, Engle EC.

Curr Opin Genet Dev. 2011 Jun;21(3):286-94. doi: 10.1016/j.gde.2011.01.003. Epub 2011 Feb 1. Review.

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