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Volumn 13, Issue 3, 2009, Pages 245-248

Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 2 CHIMERIN; CHIMERIN; UNCLASSIFIED DRUG;

EID: 67449085064     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2009.03.007     Document Type: Article
Times cited : (17)

References (31)
  • 3
    • 0000436622 scopus 로고
    • Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye
    • Duane A. Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye. Arch Ophthalmol 34 (1905) 133-159
    • (1905) Arch Ophthalmol , vol.34 , pp. 133-159
    • Duane, A.1
  • 4
    • 0018893694 scopus 로고
    • Bilateral Duane's retraction syndrome. A clinical-pathologic case report
    • 870-4
    • Hotchkiss M.G., Miller N.R., Clark A.W., and Green W.R. Bilateral Duane's retraction syndrome. A clinical-pathologic case report. Arch Ophthalmol 98 (1980) 870-4
    • (1980) Arch Ophthalmol , vol.98
    • Hotchkiss, M.G.1    Miller, N.R.2    Clark, A.W.3    Green, W.R.4
  • 5
    • 0022591681 scopus 로고
    • Clinical features of Duane's syndrome
    • Raab E.L. Clinical features of Duane's syndrome. J Pediatr Ophthalmol Strabismus 23 (1986) 64-68
    • (1986) J Pediatr Ophthalmol Strabismus , vol.23 , pp. 64-68
    • Raab, E.L.1
  • 6
    • 0018838610 scopus 로고
    • Duane's retraction syndrome associated with optic nerve hypoplasia
    • Denslow G.T., and Sims M. Duane's retraction syndrome associated with optic nerve hypoplasia. J Pediatr Ophthalmol Strabismus 17 (1980) 26-28
    • (1980) J Pediatr Ophthalmol Strabismus , vol.17 , pp. 26-28
    • Denslow, G.T.1    Sims, M.2
  • 7
    • 0003068449 scopus 로고    scopus 로고
    • The Genetics of strabismus: Duane, mobius, and fibrosis syndromes
    • Traboulsi E.I. (Ed), Oxford University Press, New York (NY)
    • Engle E.C. The Genetics of strabismus: Duane, mobius, and fibrosis syndromes. In: Traboulsi E.I. (Ed). Genetic Diseases of the Eye (1998), Oxford University Press, New York (NY) 477-512
    • (1998) Genetic Diseases of the Eye , pp. 477-512
    • Engle, E.C.1
  • 8
    • 85047685578 scopus 로고    scopus 로고
    • Bilateral Duane syndrome with bilateral congenital glaucoma
    • Kansal S., and Miller M. Bilateral Duane syndrome with bilateral congenital glaucoma. J AAPOS 5 (2001) 325-326
    • (2001) J AAPOS , vol.5 , pp. 325-326
    • Kansal, S.1    Miller, M.2
  • 9
    • 0015459795 scopus 로고
    • Congenital anomalies in Duane's retraction syndrome
    • Pfaffenbach D.D., Cross H.E., and Kearns T.P. Congenital anomalies in Duane's retraction syndrome. Arch Ophthalmol 88 (1972) 635-639
    • (1972) Arch Ophthalmol , vol.88 , pp. 635-639
    • Pfaffenbach, D.D.1    Cross, H.E.2    Kearns, T.P.3
  • 10
    • 0031243119 scopus 로고    scopus 로고
    • Clinical features of 201 cases with Duane's retraction syndrome
    • Zhang F. Clinical features of 201 cases with Duane's retraction syndrome. Chin Med J (Engl) 110 (1997) 789-791
    • (1997) Chin Med J (Engl) , vol.110 , pp. 789-791
    • Zhang, F.1
  • 11
    • 33745226977 scopus 로고    scopus 로고
    • Bilateral Duane syndrome and bilateral aniridia
    • Khan A.O., and Aldahmesh M. Bilateral Duane syndrome and bilateral aniridia. J AAPOS 10 (2006) 273-274
    • (2006) J AAPOS , vol.10 , pp. 273-274
    • Khan, A.O.1    Aldahmesh, M.2
  • 12
    • 0015305220 scopus 로고
    • Duane's retraction syndrome and associated congenital malformations
    • Cross H.E., and Pfaffenbach D.D. Duane's retraction syndrome and associated congenital malformations. Am J Ophthalmol 73 (1972) 442-450
    • (1972) Am J Ophthalmol , vol.73 , pp. 442-450
    • Cross, H.E.1    Pfaffenbach, D.D.2
  • 13
    • 0030903070 scopus 로고    scopus 로고
    • A case of Duane's retraction syndrome with multiple congenital malformations
    • Kadayifcilar S., Aydin P., and Oto S. A case of Duane's retraction syndrome with multiple congenital malformations. Eur J Ophthalmol 7 (1997) 193-195
    • (1997) Eur J Ophthalmol , vol.7 , pp. 193-195
    • Kadayifcilar, S.1    Aydin, P.2    Oto, S.3
  • 14
    • 0028636476 scopus 로고
    • Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: A new autosomal recessive condition?
    • Stoll C., Alembik Y., and Dott B. Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: A new autosomal recessive condition?. Ann Genet 37 (1994) 207-209
    • (1994) Ann Genet , vol.37 , pp. 207-209
    • Stoll, C.1    Alembik, Y.2    Dott, B.3
  • 15
    • 0014791574 scopus 로고
    • Inheritance of Duane's syndrome
    • Kirkham T.H. Inheritance of Duane's syndrome. Br J Ophthalmol 54 (1970) 323-329
    • (1970) Br J Ophthalmol , vol.54 , pp. 323-329
    • Kirkham, T.H.1
  • 17
    • 36749057886 scopus 로고    scopus 로고
    • Duane retraction syndrome on the Arabian Peninsula
    • Khan A.O., Oystreck D.T., Wilken K., and Akbar F. Duane retraction syndrome on the Arabian Peninsula. Strabismus 15 (2007) 205-208
    • (2007) Strabismus , vol.15 , pp. 205-208
    • Khan, A.O.1    Oystreck, D.T.2    Wilken, K.3    Akbar, F.4
  • 18
    • 0034027947 scopus 로고    scopus 로고
    • Clinical diversity of hereditary Duane's retraction syndrome
    • Chung M., Stout J.T., and Borchert M.S. Clinical diversity of hereditary Duane's retraction syndrome. Ophthalmology 107 (2000) 500-503
    • (2000) Ophthalmology , vol.107 , pp. 500-503
    • Chung, M.1    Stout, J.T.2    Borchert, M.S.3
  • 19
    • 33845316367 scopus 로고    scopus 로고
    • Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus
    • Demer J.L., Clark R.A., Lim K.H., and Engle E.C. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci 48 (2007) 194-202
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 194-202
    • Demer, J.L.1    Clark, R.A.2    Lim, K.H.3    Engle, E.C.4
  • 20
    • 33846904837 scopus 로고    scopus 로고
    • Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus
    • Engle E.C., Andrews C., Law K., and Demer J.L. Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Invest Ophthalmol Vis Sci 48 (2007) 189-193
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 189-193
    • Engle, E.C.1    Andrews, C.2    Law, K.3    Demer, J.L.4
  • 22
    • 0033943555 scopus 로고    scopus 로고
    • Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31
    • Evans J.C., Frayling T.M., Ellard S., and Gutowski N.J. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet 106 (2000) 636-638
    • (2000) Hum Genet , vol.106 , pp. 636-638
    • Evans, J.C.1    Frayling, T.M.2    Ellard, S.3    Gutowski, N.J.4
  • 23
    • 49449115659 scopus 로고    scopus 로고
    • Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome
    • Miyake N., Chilton J., Psatha M., Cheng L., Andrews C., Chan W.M., et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science 321 (2008) 839-843
    • (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
  • 24
    • 0016198206 scopus 로고
    • Electrophysiology of the retraction syndromes
    • Huber A. Electrophysiology of the retraction syndromes. Br J Ophthalmol 58 (1974) 293-300
    • (1974) Br J Ophthalmol , vol.58 , pp. 293-300
    • Huber, A.1
  • 26
    • 17944386587 scopus 로고    scopus 로고
    • Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging
    • Parsa C.F., Grant E., Dillon Jr. W.P., du Lac S., and Hoyt W.F. Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. Am J Ophthalmol 125 (1998) 399-401
    • (1998) Am J Ophthalmol , vol.125 , pp. 399-401
    • Parsa, C.F.1    Grant, E.2    Dillon Jr., W.P.3    du Lac, S.4    Hoyt, W.F.5
  • 28
    • 11344252523 scopus 로고    scopus 로고
    • Presence of the abducens nerve according to the type of Duane's retraction syndrome
    • Kim J.H., and Hwang J.M. Presence of the abducens nerve according to the type of Duane's retraction syndrome. Ophthalmology 112 (2005) 109-111
    • (2005) Ophthalmology , vol.112 , pp. 109-111
    • Kim, J.H.1    Hwang, J.M.2
  • 29
    • 18644369102 scopus 로고    scopus 로고
    • Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
    • Al-Baradie R., Yamada K., St. Hilaire C., Chan W.-M., Andrews C., McIntosh N., et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 71 (2002) 1195-1199
    • (2002) Am J Hum Genet , vol.71 , pp. 1195-1199
    • Al-Baradie, R.1    Yamada, K.2    St. Hilaire, C.3    Chan, W.-M.4    Andrews, C.5    McIntosh, N.6
  • 30
    • 27144541072 scopus 로고    scopus 로고
    • Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
    • Tischfield M.A., Bosley T.M., Salih M.A.M., Alorainy I.A., Sener E.C., Nester M.J., et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genet 37 (2005) 1035-1037
    • (2005) Nature Genet , vol.37 , pp. 1035-1037
    • Tischfield, M.A.1    Bosley, T.M.2    Salih, M.A.M.3    Alorainy, I.A.4    Sener, E.C.5    Nester, M.J.6
  • 31
    • 33745250480 scopus 로고    scopus 로고
    • Clinical characteristics of bilateral Duane syndrome
    • Khan A.O., and Oystreck D. Clinical characteristics of bilateral Duane syndrome. J AAPOS 10 (2006) 198-201
    • (2006) J AAPOS , vol.10 , pp. 198-201
    • Khan, A.O.1    Oystreck, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.