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Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.

作者信息

Manitto Maria Pia, Roosing Susanne, Boon Camiel J F, Souied Eric H, Bandello Francesco, Querques Giuseppe

机构信息

Department of Ophthalmology, University Vita Salute San Raffaele, Milan, Italy.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

出版信息

Eur J Hum Genet. 2015 Dec;23(12):1749-. doi: 10.1038/ejhg.2015.67. Epub 2015 Apr 15.

DOI:10.1038/ejhg.2015.67
PMID:25873014
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4795210/
Abstract
摘要

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Mol Vis. 2019 Dec 2;25:814-820. eCollection 2019.
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Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.在波兰视锥-视杆营养不良患者中通过下一代测序鉴定出的新型变异体。
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Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.视网膜营养不良患者中ABCA4基因的杂合性深度内含子变异和缺失以及一个外显子ABCA4变异
Hum Mutat. 2015 Jan;36(1):43-7. doi: 10.1002/humu.22717.
2
Causes and consequences of inherited cone disorders.遗传性圆锥细胞疾病的病因与后果。
Prog Retin Eye Res. 2014 Sep;42:1-26. doi: 10.1016/j.preteyeres.2014.05.001. Epub 2014 May 22.
3
RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model.RNAi 介导的 GCAP1(L151F) 型 Cone-Rod 营养不良小鼠模型中的基因抑制。
PLoS One. 2013;8(3):e57676. doi: 10.1371/journal.pone.0057676. Epub 2013 Mar 5.
4
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.临床病程、遗传病因和 cones-rod 营养不良的视觉结局。
Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20.
5
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.KCNV2 基因大片段缺失在伴有超正常杆反应的 Cone 型营养不良患者中很常见。
Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12.
6
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.278名西班牙对照人群中ABCA4基因突变频率：对常染色体隐性遗传性Stargardt病患病率的深入了解
Br J Ophthalmol. 2009 Oct;93(10):1359-64. doi: 10.1136/bjo.2008.148155. Epub 2008 Oct 31.
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Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation.在维生素A补充后，ABCA4介导的视网膜营养不良小鼠模型的视网膜色素上皮中脂褐素色素加速积累。
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