Clinical and genetic analysis of two Duane syndrome pedigrees that map to the Durs2 locus

被引：0
|
作者：
Engle, EC
Andrews, C
Law, K
Chan, WM
Demer, JL
机构：
[1] Childrens Hosp, Boston, MA USA
[2] Jules Stein Eye Inst, Los Angeles, CA 90024 USA
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2004年 / 45卷
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
4575
引用
收藏
页码：U471 / U471
页数：1
相关论文
共 50 条
  • [1] Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus
    Engle, Elizabeth C.
    Andrews, Caroline
    Law, Krystal
    Demer, Joseph L.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (01) : 189 - 193
  • [2] Magnetic resonance imaging (MRI) demonstrates the endophenotype of duane retraction syndrome (DRS) linked to the DURS2 locus.
    Demer, JL
    Ortube, MC
    Karim, S
    Andrews, C
    Engle, EC
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U471 - U471
  • [3] Magnetic resonance Imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus
    Demer, Joseph L.
    Clark, Robert A.
    Lim, Key-Hwan
    Engle, Elizabeth C.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (01) : 194 - 202
  • [4] Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
    Baris, Hagit N.
    Chan, Wai-Man
    Andrews, Caroline
    Behar, Doron M.
    Donovan, Diana J.
    Morton, Cynthia C.
    Ranells, Judith
    Pal, Tuya
    Ligon, Azra H.
    Engle, Elizabeth C.
    CLINICAL CASE REPORTS, 2013, 1 (01): : 30 - 37
  • [5] Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss-Kruszka syndrome
    Han, Chunxiao
    Chen, Changshui
    Zhang, Yuxin
    Li, Haibo
    BMC MEDICAL GENOMICS, 2024, 17 (01)
  • [6] Identifying the genetic locus for Duane syndrome with radial ray anomalies (Okihiro syndrome).
    Engle, EC
    McIntosh, N
    Fain, J
    Martonyi, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 307 - 307
  • [7] Clinical and molecular genetic findings in isolated sporadic Duane syndrome
    Wabbels, BK
    Kohlhase, J
    Lorenz, B
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2004, 221 (10) : 849 - 853
  • [8] ANALYSIS ON CLINICAL FEATURES AND PATHOGENIC GENE LOCUS LINKAGE OF TWO AUTOSOMAL DOMINANT PARKINSON'S DISEASE PEDIGREES
    Zhang, Ying
    Fan, Jia
    Chen, Qiu-Hui
    Hu, Guo-Hua
    Zhang, Yi-Zhi
    ACTA MEDICA MEDITERRANEA, 2019, 35 (03): : 1657 - 1660
  • [9] THE TREACHER-COLLINS SYNDROME - A CLINICAL, RADIOLOGICAL, AND GENETIC-LINKAGE STUDY ON 2 PEDIGREES
    MARRES, HAM
    CREMERS, CWRJ
    DIXON, MJ
    HUYGEN, PLM
    JOOSTEN, FBM
    ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY, 1995, 121 (05) : 509 - 514
  • [10] GENETIC STUDY OF SCHIZOPHRENIA PEDIGREES .2. ONE-LOCUS HYPOTHESES
    ELSTON, RC
    NAMBOODIRI, KK
    SPENCE, MA
    RAINER, JD
    NEUROPSYCHOBIOLOGY, 1978, 4 (04) : 193 - 206
12345