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名词信息
中 文 名:
白点状视网膜营养障碍
英 文 名:
albescent punctate retinal dystrophy
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中文曾称:
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Pubmed相关的文献
albescent punctate retinal dystrophy
相关文献:
Flecked retina disorders.
De Laey JJ.
Bull Soc Belge Ophtalmol. 1993;249:11-22.
PMID:7952338
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.
Damodar K, Dubois G, Guillou L, Mamaeva D, Pequignot M, Erkilic N, Sanjurjo-Soriano C, Boukhaddaoui H, Bernex F, Bocquet B, Vialaret J, Arsenijevic Y, Redmond TM, Hirtz C, Meunier I, Brabet P, Kalatzis V.
Mol Ther. 2024 Dec 4;32(12):4319-4336. doi: 10.1016/j.ymthe.2024.10.004. Epub 2024 Oct 9.
PMID:39385467
[Hereditary association of tapeto-retinal dystrophy, retinitis punctata albescens, with spinal-cerebellar Friedreich's ataxia].
Travkin AG, Basis VIu, Aladinskaia LV, Kunicheva GS.
Vestn Oftalmol. 1975 May-Jun;(3):84-7.
PMID:1154603
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N.
Am J Hum Genet. 2002 Apr;70(4):955-64. doi: 10.1086/339688. Epub 2002 Feb 26.
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Retinal function in Bothnia dystrophy. An electrophysiological study.
Burstedt MS, Sandgren O, Golovleva I, Wachtmeister L.
Vision Res. 2003 Nov;43(24):2559-71. doi: 10.1016/s0042-6989(03)00440-1.
PMID:13129542
Retinal dystrophies and variants in PRPH2.
Palma MMD, Martin D, Salles MV, Motta FLT, Abujamra S, Sallum JMF.
Arq Bras Oftalmol. 2019 Mar-Apr;82(2):158-160. doi: 10.5935/0004-2749.20190033.
PMID:30726412
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.
Bocquet B, El Alami Trebki H, Roux AF, Labesse G, Brabet P, Arndt C, Zanlonghi X, Defoort-Dhellemmes S, Hamroun D, Boulicot-Séguin C, Lequeux L, Picot MC, Huguet H, Audo I, Dhaenens CM, Kalatzis V, Meunier I.
Ophthalmol Sci. 2021 Aug 17;1(3):100052. doi: 10.1016/j.xops.2021.100052. eCollection 2021 Sep.
PMID:36247817
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J.
Am J Ophthalmol. 1996 Jan;121(1):19-25. doi: 10.1016/s0002-9394(14)70530-6.
PMID:8554077
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.
Torres-Costa S, Ferreira CS, Grangeia A, Santos-Silva R, Brandão E, Estrela-Silva S, Falcão-Reis F.
Eur J Ophthalmol. 2021 May;31(3):NP74-NP80. doi: 10.1177/1120672120919064. Epub 2020 Apr 28.
PMID:32345050
A multimodal study and management of retinitis punctata albescens.
Espinosa-Barberi G, Galván González JF, Viera Peláez D.
Rom J Ophthalmol. 2020 Apr-Jun;64(2):213-216.
PMID:32685789
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