About: Four-Year Follow-up of Diagnostic Service in USH1 Patients

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Four-Year Follow-up of Diagnostic Service in USH1 Patients Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 08 June 2011

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2011 (uk) im Juni 2011 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 08 June 2011 (en) artículu científicu espublizáu en xunu de 2011 (ast)
publication date	wds:Q59697741-B2499CB0-915B-4C20-B03A-BDD67EAEC15E
publication date	2011-06-08 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q59697741-F395A99C-0B31-4B7F-AC8D-06931DFE4988
language of work or name	English
author name string	wds:Q59697741-08176EAA-7DDC-40DC-8141-9EE3A46B24B6 wds:Q59697741-091EB7FB-CA86-4255-A599-06D00BA9BBAD wds:Q59697741-2DBFF46E-2FB4-461E-8150-65CF1A9F0687 wds:Q59697741-407D8B07-B1DD-4F0B-8B25-889D8136DF2B wds:Q59697741-4CC1031C-ABFD-4F36-96C3-027D36AF2AC3 wds:Q59697741-5291BD38-CF1A-4020-AC9C-AEE051156CAC wds:Q59697741-587890BE-AE88-4682-B451-4A2FA82D6F8C wds:Q59697741-59888DEA-4CAC-4602-8302-25B1FD511AFD wds:Q59697741-64AC763F-13F0-42D4-8236-CA719550D49C wds:Q59697741-7B1E5986-EC0E-4280-A53C-5C6EAABE75FF wds:Q59697741-A1607708-8D16-48F8-8BAE-1DDC01CA3EF3 wds:Q59697741-A7C6E759-2CE2-4EF0-860A-5E38B0469873 wds:Q59697741-C8934D72-1ADD-413E-BBE9-5BA0B09E4F8B wds:Q59697741-F0E3B888-4474-4F75-BBEE-0E901C0A447D
author name string	Albert David Christian Hamel Sue Malcolm Muriel Holder-Espinasse Mireille Claustres Anne-Françoise Roux Michel Mondain Hubert Journel Geneviève Lina-Granade Patrick Edery Catherine Blanchet Christel Vaché Valérie Faugère Susana Léonard
rdfs:label	Four-Year Follow-up of Diagnostic Service in USH1 Patients (en) Four-Year Follow-up of Diagnostic Service in USH1 Patients (nl)
skos:prefLabel	Four-Year Follow-up of Diagnostic Service in USH1 Patients (en) Four-Year Follow-up of Diagnostic Service in USH1 Patients (nl)
name	Four-Year Follow-up of Diagnostic Service in USH1 Patients (en) Four-Year Follow-up of Diagnostic Service in USH1 Patients (nl)
author	wds:Q59697741-03778467-E4DB-4D58-9222-B551FD00C187 wds:Q59697741-12146BF9-4482-4545-8875-7A70C167889C wds:Q59697741-3DE7D14F-564F-4683-94A0-741586BB7317 wds:Q59697741-4B317F48-8041-4A43-A573-A9B7F73313F5 wds:Q59697741-4FF0D178-3390-49E2-9FC6-355B4E96E8B3 wds:Q59697741-EA519D86-A6AE-41B8-A1EB-6A0A8219F222
author	Didier Lacombe Dominique Bonneau Umberto Ambrosetti Thomas Besnard Brigitte Gilbert-Dussardier David Baux
title	wds:Q59697741-8C090EFC-7BCF-489C-8EFE-FB0C8E76E4FB
title	Four-year follow-up of diagnostic service in USH1 patients (en)
page(s)	wds:Q59697741-D309A527-5813-48C9-B5CB-04A2305E9F7C
page(s)	4063-4071
instance of	wds:Q59697741-677C1203-768A-4CDB-95F8-E257A64A1536
instance of	scholarly article
main subject	wds:Q59697741-189d4f25-aefa-4bea-870b-2a3f086dd43c
main subject	Diagnosis
PubMed ID	wds:Q59697741-735A456B-9011-4865-B7E9-97AE99504DFD
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/21436283
PubMed ID	21436283
published in	wds:Q59697741-3DE39799-7B43-44B3-B88A-31A2CD1631A5
published in	Investigative Ophthalmology Visual Science
issue	wds:Q59697741-BCB629BB-8B9C-4E8F-8987-A1267ED82F6C
volume	wds:Q59697741-2FDE3A86-69DF-4A8C-901F-07A664BB855E
issue	7
volume	52
DOI	wds:Q59697741-EB22025C-0802-496A-B5DF-ECF9B3F2B98C
DOI	http://dx.doi.org/10.1167/IOVS.10-6869
DOI	10.1167/IOVS.10-6869
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q59697741
is cites work of	Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing Experience of targeted Usher exome sequencing as a clinical test. The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Non-USH2A mutations in USH2 patients Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients Usher syndrome in Denmark: mutation spectrum and some clinical observations An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative Genetic Screening of the Usher Syndrome in Cuba Current mutation discovery approaches in Retinitis Pigmentosa. Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 196 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software