Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology. - Wikidata - wikimedia - TriplyDB

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.

http://www.wikidata.org/entity/Q37725061

about

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.NMNAT1 variants cause cone and cone-rod dystrophy.

P2860

Q26770321-2993A073-2923-4B4F-9502-65643BB668B9 Q35268851-7CE1A90F-6749-423A-9DC4-26B28B272DAB Q35964553-EA56B601-A19E-45A6-BE7F-FA25143C2DE5 Q36049811-1A27A572-D926-4BC8-A1A8-E2932FBB612B Q36690003-2271EBA5-B443-4FC6-A857-2B2DC09DC373 Q37057166-5BC9EE39-8052-4F45-8BA9-4F6E05989FEA Q37320277-0F7482FF-605D-486B-932B-4F1B2C19863D Q38970287-408A416D-BA32-481E-9D70-C4E298BAE485 Q41108843-F61CB17D-EDE4-4000-93E3-4AB26257BA83 Q48220798-02DAB695-6065-4F6B-951A-8EBE061870A1

P2860

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.

http://www.wikidata.org/entity/Q37725061

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 26 April 2014

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Detecting genetic variations i ...... eration sequencing technology.

@en

Detecting genetic variations i ...... eration sequencing technology.

@nl

type

label

Detecting genetic variations i ...... eration sequencing technology.

@en

Detecting genetic variations i ...... eration sequencing technology.

@nl

prefLabel

Detecting genetic variations i ...... eration sequencing technology.

@en

Detecting genetic variations i ...... eration sequencing technology.

@nl

P1433

Q37725061-61373A60-B597-4B67-9E4B-980E3DD56159

P1476

Q37725061-8E4BE792-5480-4B40-B610-D46431AC3CDF

P2093

Q37725061-14A79330-290B-4730-B8D0-23F4CEC1B258

Q37725061-1F1C3136-9EE9-4EA5-B4A7-7BBB1C634618

Q37725061-E6A4CDAD-905E-488B-9D8B-DBAED2177F8D

Q37725061-E71F9F5B-7CFF-47F6-BFF1-FA8F07F3E94A

Q37725061-F64682D5-6B60-441A-9010-23EC63E2BB7A

P2860

Q37725061-1B550B6D-649B-4E51-B1B9-0BF09018BE22

Q37725061-1CAD3034-3DCA-4DDD-AA74-B57C8F8D18EE

Q37725061-2E90A409-9732-45AA-8B99-CE35CFA3C73D

Q37725061-2FB43871-0F39-48C7-9B5C-FB7BD46D2F02

Q37725061-36176CD0-63AE-4C2E-84AA-FE7EE470A40E

Q37725061-4195090E-420B-48BC-8648-4FBC8B9F08DA

Q37725061-4A4F71EE-A1B4-40A8-A0D2-E297FEB8991A

Q37725061-4C2A29C2-48A8-4495-B516-E0391680750E

Q37725061-5A4BAC9D-19FB-4F9F-A5CE-4121CF3B1DD0

Q37725061-6299CEC8-1A42-4C0D-91ED-C70B6F6C593B

P304

Q37725061-BB42A88B-F5C1-459B-A812-C8E57684F182

P31

Q37725061-F779B39E-2859-48AF-9B36-371C061915D5

P478

Q37725061-2182FE4C-3B75-44ED-BCE8-8273D70EEA10

P577

Q37725061-EA36F858-6635-4A15-8D4E-916344D32FD9

P698

Q37725061-CE7C3FB2-8588-424C-B6B1-F96D09051521

P932

Q37725061-2B2FB83B-14C0-4A21-A2A0-3CF4642E5285

P1433

Molecular Vision

P1476

Detecting genetic variations i ...... eration sequencing technology.

@en

P2093

Hai Wei Xu

http://www.w3.org/2001/XMLSchema#string

Ling Hui Qu

http://www.w3.org/2001/XMLSchema#string

Xiao Hong Meng

http://www.w3.org/2001/XMLSchema#string

Xin Jin

http://www.w3.org/2001/XMLSchema#string

Zheng Qin Yin

http://www.w3.org/2001/XMLSchema#string

P2860

NMNAT1 mutations cause Leber congenital amaurosis

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.

P304

553-560

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P478

20

http://www.w3.org/2001/XMLSchema#string

P577

2014-04-26T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

24791140

http://www.w3.org/2001/XMLSchema#string

P932

4000715

http://www.w3.org/2001/XMLSchema#string