MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES

Wu An-Lun; Wang Jung-Pan; Tseng Yun-Ju; Liu Laura; Kang Yu-Chuan; Chen Kuan-Jen; Chao An-Ning; Yeh Lung-Kun; Chen Tun-Lu; Hwang Yih-Shiou; Wu Wei-Chi; Lai Chi-Chun; Wang Nan-Kai

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MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES

机译：遗传性X型隐性疾病载体中马赛克视网膜病变的多峰成像

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Purpose: To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies.

机译：目的：探讨X型视网膜炎，X型视网膜炎，X型眼胚胎和幼稚癌（CHM）携带者的临床特征，并在这三种马赛克视网膜病变中评估它们的诊断价值。

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《Retina》 |2018年第5期|共11页
作者
Wu An-Lun; Wang Jung-Pan; Tseng Yun-Ju; Liu Laura; Kang Yu-Chuan; Chen Kuan-Jen; Chao An-Ning; Yeh Lung-Kun; Chen Tun-Lu; Hwang Yih-Shiou; Wu Wei-Chi; Lai Chi-Chun; Wang Nan-Kai;
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作者单位

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Taipei Vet Gen Hosp Dept Orthopaed &

Traumatol Taipei Taiwan;

Columbia Univ Herbert Irving Comprehens Canc Ctr New York NY USA;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

Chang Gung Mem Hosp Dept Ophthalmol 5 Fu Hsin Rd Taoyuan 33375 Taiwan;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
lyonization; retinal mosaicism; X-linked carrier; X-linked retinal disease; hereditary X-linked recessive diseases; multimodal imaging;

机译：统计;视网膜镶嵌;X型载体;X型视网膜疾病;遗传性X型隐性疾病;多式化成像;

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专利

1. MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES [J] . Wu An-Lun, Wang Jung-Pan, Tseng Yun-Ju, Retina . 2018,第5期

机译：遗传性X型隐性疾病载体中马赛克视网膜病变的多峰成像
2. Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene [J] . PyoParkS., HwanHongI., TsangS.H., European journal of human genetics: EJHG . 2013,第11期

机译：细胞成像显示X连锁性纤毛病基因杂合子携带者的遗传镶嵌
3. Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene [J] . PyoParkS., HwanHongI., TsangS.H., European journal of human genetics: EJHG . 2013,第11期

机译：细胞成像证明了X型X键性的Cileopathy基因的杂合载体中的遗传叶片
4. Selection and mutation effects on equilibrium and stability of X-linked recessive diseases [C] . Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, IEEE Conference on Decision and Control . 2015

机译：选择和突变对X连锁隐性疾病平衡和稳定性的影响
5. Genetics of X-linked and autosomal recessive hereditary nephropathy in the domestic dog. [D] . Bell, Rebecca Jane. 2007

机译：X连锁和常染色体隐性遗传性肾病在家犬中的遗传学。
6. Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene [O] . Sung Pyo Park, In Hwan Hong, Stephen H Tsang, 2013

机译：细胞成像显示X连锁性纤毛病基因的杂合子携带者中的遗传镶嵌
7. Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease [O] . Bohdan Kousal, Filip Majer, Hana Vlaskova, 2020

机译：色素视网膜病变可以表明即使在体细胞椎蕊载体中也存在致病灯2变体，没有额外的Danon病症状
8. Primary Biochemical Defect in Copper Metabolism in Mice with a Recessive X-Linked Mutation Analogous to Menkes' Disease in Man [R] . Prins, H. W., van den Hamer, C. J. A. 1979

机译：与人类menkes病相似的隐性X连锁突变小鼠铜代谢的原代生化缺陷

MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES

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