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Volumn 11, Issue 1, 2007, Pages 62-64

Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME DELETION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; DUANE RETRACTION SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOPLASIA; KARYOTYPING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; STRABISMUS;

EID: 33847306021     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2006.09.006     Document Type: Article
Times cited : (9)

References (11)
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  • 2
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    • Congenital deficiency of abduction associated with impairment of adduction, retraction movements, contractions of the palpebral fissure and oblique movements of the eye
    • Duane A. Congenital deficiency of abduction associated with impairment of adduction, retraction movements, contractions of the palpebral fissure and oblique movements of the eye. Arch Ophthal 34 (1905) 133-159
    • (1905) Arch Ophthal , vol.34 , pp. 133-159
    • Duane, A.1
  • 4
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    • 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
  • 5
    • 0345327689 scopus 로고    scopus 로고
    • Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations
    • Hoglund P., Jalkanen R., Marttinen E., and Alitalo T. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations. Am J Med Genet 123A (2003) 290-295
    • (2003) Am J Med Genet , vol.123 A , pp. 290-295
    • Hoglund, P.1    Jalkanen, R.2    Marttinen, E.3    Alitalo, T.4
  • 6
    • 0027940062 scopus 로고
    • A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene
    • Vincent C., Kalatzis V., Compain S., Levilliers J., et al. A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Hum Mol Genet 3 (1994) 1859-1866
    • (1994) Hum Mol Genet , vol.3 , pp. 1859-1866
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  • 7
    • 0035009794 scopus 로고    scopus 로고
    • Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM
    • Rickard S., Parker M., van't Hoff W., Barnicoat A., Russell-Eggitt I., Winter R.M., et al. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet 108 (2001) 398-403
    • (2001) Hum Genet , vol.108 , pp. 398-403
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  • 8
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  • 9
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.