High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

Manes Gael; Guillaumie Tremeur; Vos Werner L.; Devos Aurore; Audo Isabelle; Zeitz Christina; Marquette Virginie; Zanlonghi Xavier; Defoort-Dhellemmes Sabine; Puech Bernard; Said Saddek Mohand; Sahel Jose Alan; Odent Sylvie; Dollfus Helene; Kaplan Josseline; Dufier Jean-Louis; Le Meur Guylene; Weber Michel; Faivre Laurence; Cohen Francine Behar; Beroud Christophe; Picot Marie-Christine; Verdier Coralie; Senechal Audrey; Baudoin Corinne; Bocquet Beatrice; Findlay John B.; Meunier Isabelle; Dhaenens Claire-Marie; Hamel Christian P.

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High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

机译：PRPH2在法国常染色体显性视网膜色素变性中的高流行及其生化和临床特征

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PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients.

机译：目的：评估常染色体显性遗传性视网膜炎（adRP）中PRPH2的患病率，报告6个新突变，表征复发性新突变的生化特征，并研究adRP患者的临床特征。

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《American Journal of Ophthalmology: The International Journal of Ophthalmology》 |2015年第2期|共13页
作者
Manes Gael; Guillaumie Tremeur; Vos Werner L.; Devos Aurore; Audo Isabelle; Zeitz Christina; Marquette Virginie; Zanlonghi Xavier; Defoort-Dhellemmes Sabine; Puech Bernard; Said Saddek Mohand; Sahel Jose Alan; Odent Sylvie; Dollfus Helene; Kaplan Josseline; Dufier Jean-Louis; Le Meur Guylene; Weber Michel; Faivre Laurence; Cohen Francine Behar; Beroud Christophe; Picot Marie-Christine; Verdier Coralie; Senechal Audrey; Baudoin Corinne; Bocquet Beatrice; Findlay John B.; Meunier Isabelle; Dhaenens Claire-Marie; Hamel Christian P.;
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1. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features [J] . Manes Gael, Guillaumie Tremeur, Vos Werner L., American Journal of Ophthalmology: The International Journal of Ophthalmology . 2015,第2期

机译：PRPH2在法国常染色体显性视网膜色素变性中的高流行及其生化和临床特征
2. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) [J] . Katagiri Satoshi, Hayashi Takaaki, Mizobuchi Kei, Ophthalmic genetics . 2018,第3期

机译：常染色体显性视网膜炎，具有黄斑受累的色素，其与疾病单倍型相关，包括新型PRPH2变体（P.CYS250GLY）
3. A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP) [J] . Antaki Fares, Coussa Razek Georges, Chakarova Christina, Investigative ophthalmology & visual science . 2016,第12期

机译：PRPH2 / RDS基因中的一种新型杂合突变，导致常染色体显性视网膜炎的家庭中的表型表现谱（ADRP）
4. Autosomal dominant nocturnal frontal lobe epilepsy seizure characterization through wavelet transform of eeg records and self organizing maps [C] . B. Pisano, B. Cannas, G. Milioli, IEEE International Workshop on Machine Learning for Signal Processing . 2016

机译：通过脑电图记录的小波变换和自组织图谱表征常染色体显性夜夜额叶癫痫发作
5. Experiences of Individuals Adjusting to a Recent Diagnosis of Autosomal Dominant Retinitis Pigmentosa [D] . Satern, Marissa Lauren. 2017

机译：个人适应性常染色体显性视网膜色素变性的最新诊断的经验。
6. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree [O] . Jingliang Cheng, Jiewen Fu, Qi Zhou, 2019

机译：PRPH2基因中的一个新的剪接突变导致中国家系常染色体显性遗传性视网膜炎
7. High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. [O] . Manes, G., Guillaumie, T., Vos, W.L., 2015

机译：PRPH2在法国常染色体显性遗传性视网膜色素变性中盛行，并具有生化和临床特征。
8. Characterization of the of the Pathological and Biochemical Markers That Correlate to the Clinical Features of Autism. Subproject 2. Contribution of Significant Delay of Neuronal Development and Metabolic Shift of Neurons to Clinical Phenotype of Autism. [R] . Wegiel, J., Brown, W. T. 2013

机译：与自闭症临床特征相关的病理学和生化标志物的表征。子项目2.神经元显着延迟和神经元代谢转变对自闭症临床表型的贡献。

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

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