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Results: 1 to 20 of 65

PubMed Links for Books (Select 1488282)

1.

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).

Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K.

Mol Vis. 2010 Oct 13;16:2062-70.

2.

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.

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Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.

Demer JL, Clark RA, Tischfield MA, Engle EC.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4600-11. doi: 10.1167/iovs.10-5438. Epub 2010 Apr 14.

5.

[Magnetic resonance imaging features in two Chinese family with congenital fibrosis of extraocular muscles].

Wu L, Zhou LH, Liu CS, Cha YF, Wang J, Xing YQ.

Zhonghua Yan Ke Za Zhi. 2009 Nov;45(11):971-6. Chinese.

PMID:
20137413
6.

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.

Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011.

7.

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.

Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC.

Am J Med Genet A. 2010 Jan;152A(1):215-7. doi: 10.1002/ajmg.a.33168. No abstract available.

8.

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.

Khan AO, Khalil DS, Al Sharif LJ, Al-Ghadhfan FE, Al Tassan NA.

Ophthalmology. 2010 Jan;117(1):154-8. doi: 10.1016/j.ophtha.2009.06.029. Epub 2009 Nov 5.

PMID:
19896199
9.

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.

10.

A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.

Kakinuma N, Kiyama R.

Biochem Biophys Res Commun. 2009 Sep 4;386(4):639-44. doi: 10.1016/j.bbrc.2009.06.109. Epub 2009 Jun 24.

PMID:
19559006
11.

KIF21A variant R954W in familial or sporadic cases of CFEOM1.

Rudolph G, Nentwich M, Hellebrand H, Pollack K, Gordes R, Bau V, Kampik A, Meindl A.

Eur J Ophthalmol. 2009 Jul-Aug;19(4):667-74.

PMID:
19551685
12.

Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations.

Karadeniz N, Erkek E, Taner P.

Clin Exp Dermatol. 2009 Dec;34(8):e570-2. doi: 10.1111/j.1365-2230.2009.03246.x. Epub 2009 Jun 1.

PMID:
19489868
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.

14.

Interaction of brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 and kinesin motor protein KIF21A.

Shen X, Meza-Carmen V, Puxeddu E, Wang G, Moss J, Vaughan M.

Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18788-93. doi: 10.1073/pnas.0810104105. Epub 2008 Nov 19.

15.

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC.

Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24.

16.

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.

Lu S, Zhao C, Zhao K, Li N, Larsson C.

Arch Ophthalmol. 2008 Mar;126(3):388-94. doi: 10.1001/archopht.126.3.388.

PMID:
18332320
17.

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J.

Hum Mutat. 2007 Nov;28(11):1055-64.

PMID:
17584854
18.

Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.

Yoshida K, Okano T, Hoshi K, Yahikozawa H, Suzuki K, Banno H, Tamura T, Sobue G, Ikeda S.

Am J Med Genet A. 2007 Jul 1;143A(13):1494-501.

PMID:
17551929
19.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC.

BMC Genet. 2007 May 18;8:26.

20.
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