Cargando…

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

PURPOSE: The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, or TUBGCP6. METHODS: Patients diagnosed with conge...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shurygina, Maria F., Simonett, Joseph M., Parker, Maria A., Mitchell, Amanda, Grigorian, Florin, Lifton, Jacob, Nagiel, Aaron, Shpak, Alexander A., Dadali, Elena L., Mishina, Irina A., Weleber, Richard G., Yang, Paul, Pennesi, Mark E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2020
Materias:	Retina
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645200/ https://www.ncbi.nlm.nih.gov/pubmed/33137195 http://dx.doi.org/10.1167/iovs.61.13.2

Ejemplares similares

Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations
por: Huang, Li, et al.
Publicado: (2023)

Quantitative Analysis of Vascular Abnormalities in Full-Term Infants With Mild Familial Exudative Vitreoretinopathy
por: Li, Peng, et al.
Publicado: (2023)

Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy
por: Wang, You, et al.
Publicado: (2023)

FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations
por: Lu, Jinglin, et al.
Publicado: (2022)

Effect of Methotrexate on an In Vitro Patient-Derived Model of Proliferative Vitreoretinopathy
por: Amarnani, Dhanesh, et al.
Publicado: (2017)

Epithelial Membrane Protein-2 in Human Proliferative Vitreoretinopathy and Epiretinal Membranes
por: Telander, David G., et al.
Publicado: (2016)

EGF Receptor Signaling Modulates YAP Activation and Promotes Experimental Proliferative Vitreoretinopathy
por: Zhang, Wei, et al.
Publicado: (2022)

Using Advanced Bioinformatics Tools to Identify Novel Therapeutic Candidates for Proliferative Vitreoretinopathy
por: Xie, Edward F., et al.
Publicado: (2023)

Increased Glial Fibrillary Acid Protein and Vimentin in Vitreous Fluid as a Biomarker for Proliferative Vitreoretinopathy
por: Lee, Sun Young, et al.
Publicado: (2020)

Single-Cell Protein and Transcriptional Characterization of Epiretinal Membranes From Patients With Proliferative Vitreoretinopathy
por: Laich, Yannik, et al.
Publicado: (2022)

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports
por: Tao, Zhiyan, et al.
Publicado: (2021)

Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa
por: Yang, Paul, et al.
Publicado: (2020)

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months
por: Pennesi, Mark E., et al.
Publicado: (2018)

Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl
por: Ku, Cristy A., et al.
Publicado: (2023)

Vitreous M2 Macrophage-Derived Microparticles Promote RPE Cell Proliferation and Migration in Traumatic Proliferative Vitreoretinopathy
por: Song, Yinting, et al.
Publicado: (2021)

Relationship Between Scleral Thickness and Choroidal Structure in Central Serous Chorioretinopathy
por: Imanaga, Naoya, et al.
Publicado: (2023)

Pupillary Light Reflex and Multimodal Imaging in Patients With Central Serous Chorioretinopathy
por: Zhou, Xiaoyin, et al.
Publicado: (2023)

Myo/Nog Cells Give Rise to Myofibroblasts During Epiretinal Membrane Formation in a Mouse Model of Proliferative Vitreoretinopathy
por: Crispin, Mara, et al.
Publicado: (2023)

Silibinin Prevents TGFβ-Induced EMT of RPE in Proliferative Vitreoretinopathy by Inhibiting Stat3 and Smad3 Phosphorylation
por: Ma, Xinqi, et al.
Publicado: (2023)

High-Resolution Imaging of Intraretinal Structures in Active and Resolved Central Serous Chorioretinopathy
por: Vogel, Ryan N., et al.
Publicado: (2017)

Pupillary Responses Reveal Autonomic Regulation Impairments in Patients With Central Serous Chorioretinopathy
por: Zhou, Xiaoyin, et al.
Publicado: (2022)

Familial Exudative Vitreoretinopathy
por: Sızmaz, Selçuk, et al.
Publicado: (2015)

Factors influencing the episode duration and the anatomical and functional outcome in cases of acute central serous chorioretinopathy
por: Parajuli, Anil, et al.
Publicado: (2020)

Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia
por: Langlo, Christopher S., et al.
Publicado: (2016)

Association of Near-Infrared and Short-Wavelength Autofluorescence With the Retinal Sensitivity in Eyes With Resolved Central Serous Chorioretinopathy
por: Soga, Hirotsugu, et al.
Publicado: (2021)

Relationship of Choroidal Vasculature and Choriocapillaris Flow With Alterations of Salivary α-Amylase Patterns in Central Serous Chorioretinopathy
por: Scarinci, Fabio, et al.
Publicado: (2021)

Association of Subretinal Fluid Duration and Baseline Chorioretinal Structure With Optical Coherence Tomography in Central Serous Chorioretinopathy
por: Suzuki, Takafumi, et al.
Publicado: (2023)

Choroidal Vortex Vein Drainage System in Central Serous Chorioretinopathy Using Ultra-Widefield Optical Coherence Tomography Angiography
por: Luo, Zhonghua, et al.
Publicado: (2023)

Risk factors and characteristics of central serous chorioretinopathy with later development of macular neovascularisation detected on OCT angiography: a retrospective multicentre observational study
por: Zhou, Xiaoyin, et al.
Publicado: (2022)

Asymmetric presentations of familial exudative vitreoretinopathy
por: Natung, Tanie, et al.
Publicado: (2013)

Long-Term Investigation of Retinal Function in Patients with Achromatopsia
por: Georgiou, Michalis, et al.
Publicado: (2020)

Structure/Psychophysical Relationships in X-Linked Retinoschisis
por: Bennett, Lea D., et al.
Publicado: (2016)

The Role of ERK1/2 Activation in Sarpogrelate-Mediated Neuroprotection
por: Ku, Cristy A., et al.
Publicado: (2018)

Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma
por: Fan, Jason, et al.
Publicado: (2022)

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene
por: Birch, David G., et al.
Publicado: (2022)

Long-term Characterization of Retinal Degeneration in Royal College of Surgeons Rats Using Spectral-Domain Optical Coherence Tomography
por: Ryals, Renee C., et al.
Publicado: (2017)

Monomethyl Fumarate Protects the Retina From Light-Induced Retinopathy
por: Jiang, Dan, et al.
Publicado: (2019)

Foveal Cone Structure in Patients With Blue Cone Monochromacy
por: Patterson, Emily J., et al.
Publicado: (2022)

Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis
por: Bayram-Suverza, Mauricio, et al.
Publicado: (2023)

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease
por: Liu, Jingjing, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_fo5dcg17nqtvsktme4bq7q3v3e