眼皮肤或眼白化病
Oculocutaneous or ocular albinism
近两年的全球研究 1,301L2
2024/08 起在 Europe PMC 检索所得,按发表时间倒序显示最近 20 篇。本病的检索词较宽泛,命中数可能偏高,请以标题为准。标题未译成中文——自动翻译需要接入 LLM 服务,尚未引入。
- 2026-08A Reproducible Electroporation Strategy for CRISPR-Cas9 RNP and mRNA Delivery in Fish Embryos
- 2026-07Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing
- 2026-07The Role of SLC24A5 (NCKX5) in Human Skin Pigmentation: The Importance of Cation Transport Activity
- 2026-07Transcriptomic analyses link changes in gene expression to defects in pigment cell differentiation and eye morphogenesis in a zebrafish model for Oculocutaneous Albinism Type 2
- 2026-07Air pollution and autism-like traits: Sensitive periods and joint effects of exposure to sources and constituents of fine particulate matter
- 2026-07Spots All Over: Records of Piebaldism in Red-Tailed Squirrel <i>Syntheosciurus granatensis</i> in Northwestern Ecuador
- 2026-07Pseudo-Choroidal Melanocytosis in Birdshot Chorioretinitis: A Case Series from a Prospective Cohort
- 2026-07The relationship between foveal anatomy and retinal function in oculocutaneous albinism
- 2026-07A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish
- 2026-07Re-Identification of the Panamanian Guna/Kuna/Cuna OCA2 Founder Association Through Two American-Born Siblings
- 2026-07Acute hydrops in late-presentation keratoconus associated with oculocutaneous albinism
- 2026-07Atypical Fundus in X-Linked Ocular Albinism With GPR143 Variant
- 2026-06荟萃分析系统综述综述Skin cancer and actinic keratosis in people with albinism: a systematic review and meta-analysis
- 2026-06Congenital grouped albinotic spots of the retinal pigment epithelium-a case report
- 2026-06Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report
- 2026-06Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders
- 2026-06病例报告<i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic
- 2026-06开放获取Familial p.(Ala73Thr) Variant in <i>GNB2</i> Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma
- 2026-06开放获取Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits
- 2026-06Melanin Deficiency Is Associated with Immune Homeostasis in the Critically Endangered Yangtze Sturgeon (<i>Acipenser dabryanus</i>)
在中国开展的临床试验 3L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实,并与主治医生商量。
当前没有检索到登记为可入组的试验。
宽泛匹配的在招试验(3 项)
这些试验只被更宽泛的病名命中(例如用「帕金森病」检索「青年型帕金森病」),很可能并不针对本病。逐条看标题再判断。
- Preoperative Imatinib Mesylate Combined With Rectal-sparing Surgery in Patients With c-KIT Gene-mutant Rectal GIST中国研究中心 1 个:Fuzhou
- Comparing Regorafenib Combined With Envafolimab to Physician's Choice in Patients With Metastatic Gastrointestinal Stromal Tumors Harboring KIT Exon 17 Mutations Refractory to Standard Treatment中国研究中心 1 个:Beijing
- Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)中国研究中心 1 个:Chengdu
外部标识与链接
发现这一页有错误?告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
本页数据来源
- 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
- 中文病名:Orphanet 中文包,冻结于 2020-06-01
- 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)