Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:European journal of human genetics : EJHG 2012-05, Vol.20 (5), p.4-4
Hauptverfasser: Ramsden, Simon C, Davidson, Alice E, Leroy, Bart P, Moore, Anthony T, Webster, Andrew R, Black, Graeme C M, Manson, Forbes D C
Format: Artikel
Sprache:eng
Schlagworte:
Bestrophins
Chloride Channels - genetics
Clinical Utility Gene Card
Eye Proteins - genetics
Family medical history
Genetic Testing - methods
Genetics
Genotype & phenotype
Hospitals
Humans
Mutation
Ophthalmology
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 4
container_issue 5
container_start_page 4
container_title European journal of human genetics : EJHG
container_volume 20
creator Ramsden, Simon C
Davidson, Alice E
Leroy, Bart P
Moore, Anthony T
Webster, Andrew R
Black, Graeme C M
Manson, Forbes D C
description
doi_str_mv 10.1038/ejhg.2011.251
format Article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3330226</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1008825288</sourcerecordid><originalsourceid>FETCH-LOGICAL-c415t-fc98b42a67929c7f7ea73398c9d6e6e7cab694f1be0ee6450a4d063f3d2157d53</originalsourceid><addsrcrecordid>eNpdkUtLxDAURoMovpdupeBGFx1zk7ZJXQg6-ALRhboOmfR2JkOnGZNWmH9viqOoqzzu4Us-DiFHQEdAuTzH-Ww6YhRgxHLYILuQiSLNMy43456CTDMJfIfshTCnNA4FbJMdxhjPIKe75Gnc2NYa3SR9ZxvbrZIptpgY7aukdv4iub55eYXUY6M7rJJqFTrvljOLITm9xvWhdUvdDXdnB2Sr1k3Aw_W6T95ub17H9-nj893D-OoxNfHZLq1NKScZ04UoWWlELVALzktpyqrAAoXRk6LMapggRSyynOqsogWvecUgF1XO98nlV-6ynyywMth2Xjdq6e1C-5Vy2qq_k9bO1NR9KM45ZayIAafrAO_e-1hELWww2DS6RdcHBZRKyXImZURP_qFz1_s21huoUkqQAiKVflHGuxA81j-fAaoGU2owpQZTKpqK_PHvBj_0txr-CWC_j2w</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1009881871</pqid></control><display><type>article</type><title>Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Ramsden, Simon C ; Davidson, Alice E ; Leroy, Bart P ; Moore, Anthony T ; Webster, Andrew R ; Black, Graeme C M ; Manson, Forbes D C</creator><creatorcontrib>Ramsden, Simon C ; Davidson, Alice E ; Leroy, Bart P ; Moore, Anthony T ; Webster, Andrew R ; Black, Graeme C M ; Manson, Forbes D C</creatorcontrib><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/ejhg.2011.251</identifier><identifier>PMID: 22234150</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Bestrophins ; Chloride Channels - genetics ; Clinical Utility Gene Card ; Eye Proteins - genetics ; Family medical history ; Genetic Testing - methods ; Genetics ; Genotype &amp; phenotype ; Hospitals ; Humans ; Mutation ; Ophthalmology</subject><ispartof>European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.4-4</ispartof><rights>Copyright Nature Publishing Group May 2012</rights><rights>Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c415t-fc98b42a67929c7f7ea73398c9d6e6e7cab694f1be0ee6450a4d063f3d2157d53</citedby><cites>FETCH-LOGICAL-c415t-fc98b42a67929c7f7ea73398c9d6e6e7cab694f1be0ee6450a4d063f3d2157d53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330226/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330226/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22234150$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ramsden, Simon C</creatorcontrib><creatorcontrib>Davidson, Alice E</creatorcontrib><creatorcontrib>Leroy, Bart P</creatorcontrib><creatorcontrib>Moore, Anthony T</creatorcontrib><creatorcontrib>Webster, Andrew R</creatorcontrib><creatorcontrib>Black, Graeme C M</creatorcontrib><creatorcontrib>Manson, Forbes D C</creatorcontrib><title>Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><subject>Bestrophins</subject><subject>Chloride Channels - genetics</subject><subject>Clinical Utility Gene Card</subject><subject>Eye Proteins - genetics</subject><subject>Family medical history</subject><subject>Genetic Testing - methods</subject><subject>Genetics</subject><subject>Genotype &amp; phenotype</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Mutation</subject><subject>Ophthalmology</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpdkUtLxDAURoMovpdupeBGFx1zk7ZJXQg6-ALRhboOmfR2JkOnGZNWmH9viqOoqzzu4Us-DiFHQEdAuTzH-Ww6YhRgxHLYILuQiSLNMy43456CTDMJfIfshTCnNA4FbJMdxhjPIKe75Gnc2NYa3SR9ZxvbrZIptpgY7aukdv4iub55eYXUY6M7rJJqFTrvljOLITm9xvWhdUvdDXdnB2Sr1k3Aw_W6T95ub17H9-nj893D-OoxNfHZLq1NKScZ04UoWWlELVALzktpyqrAAoXRk6LMapggRSyynOqsogWvecUgF1XO98nlV-6ynyywMth2Xjdq6e1C-5Vy2qq_k9bO1NR9KM45ZayIAafrAO_e-1hELWww2DS6RdcHBZRKyXImZURP_qFz1_s21huoUkqQAiKVflHGuxA81j-fAaoGU2owpQZTKpqK_PHvBj_0txr-CWC_j2w</recordid><startdate>20120501</startdate><enddate>20120501</enddate><creator>Ramsden, Simon C</creator><creator>Davidson, Alice E</creator><creator>Leroy, Bart P</creator><creator>Moore, Anthony T</creator><creator>Webster, Andrew R</creator><creator>Black, Graeme C M</creator><creator>Manson, Forbes D C</creator><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20120501</creationdate><title>Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)</title><author>Ramsden, Simon C ; Davidson, Alice E ; Leroy, Bart P ; Moore, Anthony T ; Webster, Andrew R ; Black, Graeme C M ; Manson, Forbes D C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c415t-fc98b42a67929c7f7ea73398c9d6e6e7cab694f1be0ee6450a4d063f3d2157d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Bestrophins</topic><topic>Chloride Channels - genetics</topic><topic>Clinical Utility Gene Card</topic><topic>Eye Proteins - genetics</topic><topic>Family medical history</topic><topic>Genetic Testing - methods</topic><topic>Genetics</topic><topic>Genotype &amp; phenotype</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Mutation</topic><topic>Ophthalmology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ramsden, Simon C</creatorcontrib><creatorcontrib>Davidson, Alice E</creatorcontrib><creatorcontrib>Leroy, Bart P</creatorcontrib><creatorcontrib>Moore, Anthony T</creatorcontrib><creatorcontrib>Webster, Andrew R</creatorcontrib><creatorcontrib>Black, Graeme C M</creatorcontrib><creatorcontrib>Manson, Forbes D C</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ramsden, Simon C</au><au>Davidson, Alice E</au><au>Leroy, Bart P</au><au>Moore, Anthony T</au><au>Webster, Andrew R</au><au>Black, Graeme C M</au><au>Manson, Forbes D C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)</atitle><jtitle>European journal of human genetics : EJHG</jtitle><addtitle>Eur J Hum Genet</addtitle><date>2012-05-01</date><risdate>2012</risdate><volume>20</volume><issue>5</issue><spage>4</spage><epage>4</epage><pages>4-4</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><cop>England</cop><pub>Nature Publishing Group</pub><pmid>22234150</pmid><doi>10.1038/ejhg.2011.251</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1018-4813
ispartof European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.4-4
issn 1018-4813
1476-5438
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3330226
source MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection
subjects Bestrophins
Chloride Channels - genetics
Clinical Utility Gene Card
Eye Proteins - genetics
Family medical history
Genetic Testing - methods
Genetics
Genotype & phenotype
Hospitals
Humans
Mutation
Ophthalmology
title Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-25T20%3A39%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Clinical%20utility%20gene%20card%20for:%20BEST1-related%20dystrophies%20(Bestrophinopathies)&rft.jtitle=European%20journal%20of%20human%20genetics%20:%20EJHG&rft.au=Ramsden,%20Simon%20C&rft.date=2012-05-01&rft.volume=20&rft.issue=5&rft.spage=4&rft.epage=4&rft.pages=4-4&rft.issn=1018-4813&rft.eissn=1476-5438&rft_id=info:doi/10.1038/ejhg.2011.251&rft_dat=%3Cproquest_pubme%3E1008825288%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1009881871&rft_id=info:pmid/22234150&rfr_iscdi=true