Suppr超能文献

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

作者信息

Hameed A, Abid A, Aziz A, Ismail M, Mehdi S Q, Khaliq S

出版信息

J Med Genet. 2003 Aug;40(8):616-9. doi: 10.1136/jmg.40.8.616.

Abstract
摘要

相似文献

1
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.
J Med Genet. 2003 Aug;40(8):616-9. doi: 10.1136/jmg.40.8.616.
2
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53. doi: 10.5301/ejo.5000096.
3
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
J Med Genet. 2010 Oct;47(10):665-9. doi: 10.1136/jmg.2009.069120. Epub 2010 Aug 30.
4
Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
Ophthalmic Genet. 2014 Sep;35(3):130-7. doi: 10.3109/13816810.2013.804097. Epub 2013 Jun 14.
5
Novel recessive cone-rod dystrophy caused by POC1B mutation.
JAMA Ophthalmol. 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658.
9
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
Am J Hum Genet. 2002 Dec;71(6):1480-2. doi: 10.1086/344829.

引用本文的文献

2
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
BMC Ophthalmol. 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7.
3
A Case of Pigmented Paravenous Retinochoroidal Atrophy With Retinitis Pigmentosa.
Cureus. 2023 Nov 8;15(11):e48532. doi: 10.7759/cureus.48532. eCollection 2023 Nov.
5
Pigmented paravenous chorioretinal atrophy: Updated scenario.
Eur J Ophthalmol. 2024 Jul;34(4):941-951. doi: 10.1177/11206721231199118. Epub 2023 Sep 5.
6
Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine -associated cone-rod dystrophy.
Front Cell Neurosci. 2023 Aug 15;17:1226603. doi: 10.3389/fncel.2023.1226603. eCollection 2023.
8
variant associated with pigmented paravenous chorioretinal atrophy.
Eur J Ophthalmol. 2023 Nov;33(6):NP6-NP9. doi: 10.1177/11206721231155042. Epub 2023 Feb 8.
9
Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.
Open Life Sci. 2023 Jan 16;18(1):20220532. doi: 10.1515/biol-2022-0532. eCollection 2023.
10
Zebrafish models of inherited retinal dystrophies.
J Transl Genet Genom. 2022;6(1):95-110. doi: 10.20517/jtgg.2021.47. Epub 2022 Feb 8.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验