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■略語／展開語 : CHM／choroideremia

関連PubMed/MEDLINE情報

合計出現文献数:

163

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略語:

CHM

(

>>共起略語

)

展開形:

choroideremia

(脈絡叢と網膜変性による進行性の視力低下を伴う遺伝性疾患) 全脈絡膜萎縮, コロイデレミア, 脈絡膜欠如

CHM (167)回

choroideremia (101)回

Choroideremia (63)回

choroideraemia (1)回

Choroideraemia (1)回

Choroidermia (1)回

CHM / choroideremia (101)回

CHM / Choroideremia (63)回

CHM / Choroidermia (1)回

CHM / choroideraemia (1)回

CHM / Choroideraemia (1)回

No.
発表年
題目
共起略語

1

2024

A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study.
BCVA, ETDRS, EZ, FAF

2

2024

Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.
LHON, MLPA, NGS

3

2024

Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.
ADLs

4

2024

Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells.
RPE, hiPSCs

5

2024

Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography.
ORG, RPE

6

2024

Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics.
BCVA, HOV, LLVA, PRC

7

2024

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
RO, RP

8

2024

Retinal Sensitivity in Comparison to Cone Density in Choroideremia.
AOSLO

9

2023

Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy.
---

10

2023

Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.
AAV, REP1, S/MAR

11

2023

Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.
4dpf, CC, OCTA, REP1, RPE, SD-OCT

12

2023

Motion-selective areas V5/MT and MST appear resistant to deterioration in choroideremia.
HC's, SAP, fMRI, pRF

13

2023

Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.
ER, REP1, RPE

14

2022

A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene.
---

15

2022

AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy.
ASOs, BCVA, FAF, RPE

16

2022

Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.
AAV2, SD-OCT, SW-FAF, vg

17

2022

Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.
CI, DACP, NIR-AF, SD-OCT

18

2022

Choroideremia: molecular mechanisms and therapies.
REP1, RPE

19

2022

Clinical and genetic findings in a Chinese cohort with choroideremia.
BCVA, OCT, RPE

20

2022

Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation.
hiPSC

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