Cargando…

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

Detalles Bibliográficos
Autores principales:	Cremers, Frans P. M., Boon, Camiel J. F., Bujakowska, Kinga, Zeitz, Christina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Editorial
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924557/ https://www.ncbi.nlm.nih.gov/pubmed/29659558 http://dx.doi.org/10.3390/genes9040215

Ejemplares similares

Preface of Special Issue "Molecular Therapies for Inherited Retinal Diseases"
por: Collin, Rob W.J., et al.
Publicado: (2020)

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes
por: Tracewska, Anna M., et al.
Publicado: (2021)

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
por: Astuti, Galuh D. N., et al.
Publicado: (2018)

The Special Electrophysiological Signs of Inherited Retinal Dystrophies
por: Prokofyeva, Elena, et al.
Publicado: (2012)

Structure-based network analysis predicts mutations associated with inherited retinal disease
por: Hauser, Blake M., et al.
Publicado: (2023)

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
por: Zampaglione, Erin, et al.
Publicado: (2020)

Artificial vision: the effectiveness of the OrCam in patients with advanced inherited retinal dystrophies
por: Nguyen, Xuan‐Thanh‐An, et al.
Publicado: (2021)

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration
por: Jamshidi, Farzad, et al.
Publicado: (2018)

Copy Number Variation Is An Important Contributor to the Genetic Causality of Inherited Retinal Degenerations
por: Bujakowska, Kinga M., et al.
Publicado: (2016)

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies
por: Habibi, Imen, et al.
Publicado: (2021)

Special Issue “Molecular Basis of Inherited Diseases in Companion Animals”
por: Friedenberg, Steven G., et al.
Publicado: (2021)

Overview of the Special Issue “Protein-Based Infection, Inheritance, and Memory”
por: Chernoff, Yury O., et al.
Publicado: (2023)

Inherited Retinal Diseases
por: Ben-Yosef, Tamar
Publicado: (2022)

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders
por: Meyer, Alayne P., et al.
Publicado: (2020)

Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance
por: Ellingford, Jamie M., et al.
Publicado: (2020)

Retinal imaging in inherited retinal diseases
por: Georgiou, Michalis, et al.
Publicado: (2020)

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism
por: Mastrangelo, Mario, et al.
Publicado: (2023)

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations
por: Martorana, Davide, et al.
Publicado: (2017)

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss
por: de Bruijn, Suzanne E., et al.
Publicado: (2021)

INHERITED RETINAL DYSTROPHY IN THE RAT
por: Dowling, John E., et al.
Publicado: (1962)

Approach to inherited retinal diseases
por: Ratra, Dhanashree, et al.
Publicado: (2022)

Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations
por: Zhu, Qing, et al.
Publicado: (2021)

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
por: Tayebi, Naeimeh, et al.
Publicado: (2019)

GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data
por: Neubauer, Jonas, et al.
Publicado: (2022)

Molecular Mechanisms, Genotype–Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases
por: Pey, Angel L.
Publicado: (2023)

Phenotype as Agent for Epigenetic Inheritance
por: Torday, John S., et al.
Publicado: (2016)

Retinal Oxygenation in Inherited Diseases of the Retina
por: Türksever, Cengiz, et al.
Publicado: (2021)

Management and treatment of inherited retinal dystrophies
por: Levi, Sarah R., et al.
Publicado: (2021)

Gene therapy for inherited retinal diseases
por: Nuzbrokh, Yan, et al.
Publicado: (2021)

Voretigene neparvovec for inherited retinal dystrophy
Publicado: (2021)

Prime Editing for Inherited Retinal Diseases
por: da Costa, Bruna Lopes, et al.
Publicado: (2021)

Structural evaluation in inherited retinal diseases
por: Daich Varela, Malena, et al.
Publicado: (2021)

Zebrafish models of inherited retinal dystrophies
por: Perkins, Brian D.
Publicado: (2022)

The contribution of inherited genotype to breast cancer
por: Rebbeck, Timothy R
Publicado: (2002)

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry
por: Ben Yosef, Tamar, et al.
Publicado: (2023)

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
por: Yang, Tsai-Hsuan, et al.
Publicado: (2023)

Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies
por: Olivares-González, Lorena, et al.
Publicado: (2021)

The Inheritance of Mutilations and Other Inheritances
por: Worthington, S. M.
Publicado: (1897)

The Inheritance of Mutilations and Other Inheritances
por: Worthington, S. M.
Publicado: (1897)

The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations
por: Ehrenberg, Miriam, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_7pelsl82tpqfs6q8pivmu41s69