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Phenoty** and genoty** inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and in children. The scope of this review is to familiarise clinicians and scientists …
population and in children. The scope of this review is to familiarise clinicians and scientists …
[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …
[HTML][HTML] An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic
variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …
variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
C Sanjurjo-Soriano, C Jimenez-Medina… - Human Genetics and …, 2023 - cell.com
There is an emblematic clinical and genetic heterogeneity associated with inherited retinal
diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy …
diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy …
Stargardt macular dystrophy and therapeutic approaches
Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most
prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused …
prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused …
Stargardt disease and progress in therapeutic strategies
Background Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …
Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights
X Jiang, OA Mahroo - Eye, 2021 - nature.com
The dark-adapted human electroretinogram (ERG) response to a standard bright flash
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …
Stargardt disease: Multimodal imaging: A review
Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by
bilateral progressive central vision loss and subretinal deposition of lipofuscin‐like …
bilateral progressive central vision loss and subretinal deposition of lipofuscin‐like …
[HTML][HTML] Adaptive optics imaging in inherited retinal diseases: A sco** review of the clinical literature
AC Britten-Jones, L Thai, JPM Flanagan… - Survey of …, 2024 - Elsevier
Adaptive optics (AO) imaging enables direct, objective assessments of retinal cells.
Applications of AO show great promise in advancing our understanding of the etiology of …
Applications of AO show great promise in advancing our understanding of the etiology of …