NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
about
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingMolecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome SequencingParadigm Shifts in Ophthalmic Diagnostics.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate.The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.Toward an elucidation of the molecular genetics of inherited retinal degenerations.A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860
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P2860
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-my
2015年学术文章
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2015年學術文章
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2015年學術文章
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2015年學術文章
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name
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
@ast
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
@en
type
label
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
@ast
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
@en
prefLabel
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
@ast
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
@en
P2093
P2860
P356
P1433
P1476
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa
@en
P2093
Hendrik P N Scholl
Keqing Wang
Kristen Bowles
Xinjing Wang
Zhongqi Ge
P2860
P2888
P356
10.1038/SREP18287
P407
P577
2015-12-15T00:00:00Z