-
1
-
-
33846993403
-
Genetic basis of congenital strabismus
-
Engle EC. Genetic basis of congenital strabismus. Arch Ophthalmol 2007; 125:189-95.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 189-195
-
-
Engle E., C.1
-
3
-
-
0022924347
-
Inheritance of congenital esotropia
-
Maumenee IH, Alston A, Mets MB, Flynn JT, Mitchell TN, Beaty TH. Inheritance of congenital esotropia. Trans Am Ophthalmol Soc 1986; 84:85-93.
-
(1986)
Trans Am Ophthalmol Soc
, vol.84
, pp. 85-93
-
-
Maumenee, I.H.1
Alston, A.2
Mets, M.B.3
Flynn, J.T.4
Mitchell, T.N.5
Beaty, T.H.6
-
5
-
-
49449115659
-
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. Human CHN1 mutations hyperactivate alpha2- chimaerin and cause Duane's retraction syndrome. Science 2008; 321:839-43.
-
(2008)
Science
, vol.321
, pp. 839-843
-
-
Miyake, N.1
Chilton, J.2
Psatha, M.3
Cheng, L.4
Andrews, C.5
Chan, W.M.6
Law, K.7
Crosier, M.8
Lindsay, S.9
Cheung, M.10
Allen, J.11
Gutowski, N.J.12
Ellard, S.13
Young, E.14
Iannaccone, A.15
Appukuttan, B.16
Stout, J.T.17
Christiansen, S.18
Ciccarelli, M.L.19
Baldi, A.20
Campioni, M.21
Zenteno, J.C.22
Davenport, D.23
Mariani, L.E.24
Sahin, M.25
Guthrie, S.26
Engle, E.C.27
more..
-
6
-
-
34249049620
-
Oculomotility disorders arising from disruptions in brainstem motor neuron development
-
Engle EC. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol 2007; 64:633-7.
-
(2007)
Arch Neurol
, vol.64
, pp. 633-637
-
-
Engle, E.C.1
-
7
-
-
0036403862
-
Facts and perspectives
-
Lorenz B. Genetics of isolated and syndromic strabismus
-
Lorenz B. Genetics of isolated and syndromic strabismus: Facts and perspectives. Strabismus 2002; 10:147-56.
-
(2002)
Strabismus
, vol.10
, pp. 147-156
-
-
-
8
-
-
0142091371
-
A strabismus susceptibility locus on chromosome 7p
-
Parikh V, Shugart YY, Doheny KF, Zhang J, Li L, Williams J, Hayden D, Craig B, Capo H, Chamblee D, Chen C, Collins M, Dankner S, Fiergang D, Guyton D, Hunter D, Hutcheon M, Keys M, Morrison N, Munoz M, Parks M, Plotsky D, Protzko E, Repka MX, Sarubbi M, Schnall B, Siatkowski RM, Traboulsi E, Waeltermann J, Nathans J. A strabismus susceptibility locus on chromosome 7p. Proc Natl Acad Sci USA 2003; 100:12283-8.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 12283-12288
-
-
Parikh, V.1
Shugart, Y.Y.2
Doheny, K.F.3
Zhang, J.4
Li, L.5
Williams, J.6
Hayden, D.7
Craig, B.8
Capo, H.9
Chamblee, D.10
Chen, C.11
Collins, M.12
Dankner, S.13
Fiergang, D.14
Guyton, D.15
Hunter, D.16
Hutcheon, M.17
Keys, M.18
Morrison, N.19
Munoz, M.20
Parks, M.21
Plotsky, D.22
Protzko, E.23
Repka, M.X.24
Sarubbi, M.25
Schnall, B.26
Siatkowski, R.M.27
Traboulsi, E.28
Waeltermann, J.29
Nathans, J.30
more..
-
9
-
-
67649961689
-
Replication of the recessive STBMS1 locus but with dominant inheritance
-
Rice A, Nsengimana J, Simmons IG, Toomes C, Hoole J, Willoughby CE, Cassidy F, Williams GA, George ND, Sheridan E, Young TL, Hunter TI, Barrett BT, Elliott DB, Bishop DT, Inglehearn CF. Replication of the recessive STBMS1 locus but with dominant inheritance. Invest Ophthalmol Vis Sci 2009; 50:3210-7.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 3210-3217
-
-
Rice, A.1
Nsengimana, J.2
Simmons, I.G.3
Toomes, C.4
Hoole, J.5
Willoughby, C.E.6
Cassidy, F.7
Williams, G.A.8
George, N.D.9
Sheridan, E.10
Young, T.L.11
Hunter, T.I.12
Barrett, B.T.13
Elliott, D.B.14
Bishop, D.T.15
Inglehearn, C.F.16
-
10
-
-
59449087494
-
Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus
-
Shaaban S, Matsuo T, Fujiwara H, Itoshima E, Furuse T, Hasebe S, Zhang Q, Ott J, Ohtsuki H. Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus. Invest Ophthalmol Vis Sci 2009; 50:654-61.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 654-661
-
-
Shaaban, S.1
Matsuo, T.2
Fujiwara, H.3
Itoshima, E.4
Furuse, T.5
Hasebe, S.6
Zhang, Q.7
Ott, J.8
Ohtsuki, H.9
-
11
-
-
67650532149
-
Investigation of parent-of-origin effect in comitant strabismus using MOD score analysis
-
Shaaban S, Matsuo T, Strauch K, Ohtsuki H. Investigation of parent-of-origin effect in comitant strabismus using MOD score analysis. Mol Vis 2009; 15:1351-8.
-
(2009)
Mol Vis
, vol.15
, pp. 1351-1358
-
-
Shaaban, S.1
Matsuo, T.2
Strauch, K.3
Ohtsuki, H.4
-
12
-
-
13844266053
-
A PERL script for easy and automated two-/multi-point linkage analyses
-
easyLINKAGE
-
Lindner TH, Hoffmann K. easyLINKAGE: A PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 2005; 21:405-7.
-
(2005)
Bioinformatics
, vol.21
, pp. 405-407
-
-
Lindner, T.H.1
Hoffmann, K.2
-
13
-
-
0014186755
-
On the heredity of strabismus concomitans
-
Richter S. On the heredity of strabismus concomitans. Humangenetik 1967; 3:235-43.
-
(1967)
Humangenetik
, vol.3
, pp. 235-243
-
-
Richter, S.1
-
14
-
-
84857118730
-
-
GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2004. June
-
Andrews CV, Hunter DG, Engle EC. Duane syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2004. June, 2007; http://www.genetests.org.
-
(2007)
Duane Syndrome
-
-
Andrews, C.V.1
Hunter, D.G.2
Engle, E.C.3
-
15
-
-
75149171851
-
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. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet A 2010; 152A: 215-7.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 215-217
-
-
Miyake, N.1
Andrews, C.2
Fan, W.3
He, W.4
Chan, W.M.5
Engle, E.C.6
-
16
-
-
77955552850
-
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders
-
Volk AE, Fricke J, Strobl J, Kolling G, Kubisch C, Neugebauer A. Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. Graefes Arch Clin Exp Ophthalmol 2010; 248:1351-7.
-
(2010)
Graefes Arch Clin Exp Ophthalmol
, vol.248
, pp. 1351-1357
-
-
Volk, A.E.1
Fricke, J.2
Strobl, J.3
Kolling, G.4
Kubisch, C.5
Neugebauer, A.6
-
17
-
-
8844219653
-
Are Duane syndrome and infantile esotropia allelic
-
Connell BJ, Wilkinson RM, Barbour JM, Scotter LW, Poulsen JL, Wirth MG, Essex RW, Savarirayan R, Mackey DA. Are Duane syndrome and infantile esotropia allelic? Ophthalmic Genet 2004; 25:189-98.
-
(2004)
Ophthalmic Genet
, vol.25
, pp. 189-198
-
-
Connell, B.J.1
Wilkinson, R.M.2
Barbour, J.M.3
Scotter, L.W.4
Poulsen, J.L.5
Wirth, M.G.6
Essex, R.W.7
Savarirayan, R.8
Mackey, D.A.9
-
18
-
-
79955586870
-
Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)
-
Khan AO, Shinwari J, Abu Dhaim N, Khalil D, Al Sharif L, Al Tassan N. Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3). Mol Vis 2011; 17:971-6.
-
(2011)
Mol Vis
, vol.17
, pp. 971-976
-
-
Khan, A.O.1
Shinwari, J.2
Abu Dhaim, N.3
Khalil, D.4
Al Sharif, L.5
Al Tassan, N.6
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