Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 2014-02, Vol.94 (2), p.310-310 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 310 |
|---|---|
| container_issue | 2 |
| container_start_page | 310 |
| container_title | American journal of human genetics |
| container_volume | 94 |
| creator | Tuz, Karina Bachmann-Gagescu, Ruxandra O’Day, Diana R. Hua, Kiet Isabella, Christine R. Phelps, Ian G. Stolarski, Allan E. O’Roak, Brian J. Dempsey, Jennifer C. Lourenco, Charles Alswaid, Abdulrahman Bönnemann, Carsten G. Medne, Livija Nampoothiri, Sheela Stark, Zornitza Leventer, Richard J. Topçu, Meral Cansu, Ali Jagadeesh, Sujatha Done, Stephen Ishak, Gisele E. Glass, Ian A. Shendure, Jay Neuhauss, Stephan C.F. Haldeman-Englert, Chad R. Doherty, Dan Ferland, Russell J. |
| description | |
| doi_str_mv | 10.1016/j.ajhg.2014.01.003 |
| format | Article |
| fullrecord | <record><control><sourceid>elsevier_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3928650</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002929714000044</els_id><sourcerecordid>S0002929714000044</sourcerecordid><originalsourceid>FETCH-LOGICAL-c329t-aea95d81370706ab2fe09f8c2390b70bca5242b5c23a2f06c26f9ccdebe0bf383</originalsourceid><addsrcrecordid>eNp9kc1qGzEUhUVpoM7PC3SlF5jplZT5gxIwkyZtSIghyVpImjseGVsykiaJV3n1jOsSyKarA_fwncvhEPKdQc6AlT9WuVoNy5wDO8-B5QDiC5mxQlRZWULxlcwAgGcNb6pv5DjGFQBjNYgZebsbk0rWu0ito-3DYsFoq8aIdBHsRoUdbe3aKjrXzoeNWttkMVLlOnrjR40h0Yed64LfIH2xaaA-_FU_JnqDo0M6j9th92qnH25JHwcflLGGXu5iCn5yTslRr9YRz_7pCXm6-vXY_s5u76__tPPbzAjepEyhaoquZqKCCkqleY_Q9LXhogFdgTaq4OdcF9NB8R5Kw8u-MaZDjaB7UYsTcnHI3Y56g51Bl4Jay-2hpPTKys-Os4Nc-mcpGl6XBUwB_BBggo8xYP_BMpD7DeRK7jeQ-w0kMDltMEE_DxBO1Z4tBhmNRWewswFNkp23_8PfAUeBlFQ</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy</title><source>Elsevier ScienceDirect Journals Complete - AutoHoldings</source><source>Cell Press Free Archives</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Tuz, Karina ; Bachmann-Gagescu, Ruxandra ; O’Day, Diana R. ; Hua, Kiet ; Isabella, Christine R. ; Phelps, Ian G. ; Stolarski, Allan E. ; O’Roak, Brian J. ; Dempsey, Jennifer C. ; Lourenco, Charles ; Alswaid, Abdulrahman ; Bönnemann, Carsten G. ; Medne, Livija ; Nampoothiri, Sheela ; Stark, Zornitza ; Leventer, Richard J. ; Topçu, Meral ; Cansu, Ali ; Jagadeesh, Sujatha ; Done, Stephen ; Ishak, Gisele E. ; Glass, Ian A. ; Shendure, Jay ; Neuhauss, Stephan C.F. ; Haldeman-Englert, Chad R. ; Doherty, Dan ; Ferland, Russell J.</creator><creatorcontrib>Tuz, Karina ; Bachmann-Gagescu, Ruxandra ; O’Day, Diana R. ; Hua, Kiet ; Isabella, Christine R. ; Phelps, Ian G. ; Stolarski, Allan E. ; O’Roak, Brian J. ; Dempsey, Jennifer C. ; Lourenco, Charles ; Alswaid, Abdulrahman ; Bönnemann, Carsten G. ; Medne, Livija ; Nampoothiri, Sheela ; Stark, Zornitza ; Leventer, Richard J. ; Topçu, Meral ; Cansu, Ali ; Jagadeesh, Sujatha ; Done, Stephen ; Ishak, Gisele E. ; Glass, Ian A. ; Shendure, Jay ; Neuhauss, Stephan C.F. ; Haldeman-Englert, Chad R. ; Doherty, Dan ; Ferland, Russell J.</creatorcontrib><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2014.01.003</identifier><language>eng</language><publisher>Elsevier Inc</publisher><subject>Erratum</subject><ispartof>American journal of human genetics, 2014-02, Vol.94 (2), p.310-310</ispartof><rights>2014 The American Society of Human Genetics</rights><rights>2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c329t-aea95d81370706ab2fe09f8c2390b70bca5242b5c23a2f06c26f9ccdebe0bf383</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928650/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ajhg.2014.01.003$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3548,27922,27923,45993,53789,53791</link.rule.ids></links><search><creatorcontrib>Tuz, Karina</creatorcontrib><creatorcontrib>Bachmann-Gagescu, Ruxandra</creatorcontrib><creatorcontrib>O’Day, Diana R.</creatorcontrib><creatorcontrib>Hua, Kiet</creatorcontrib><creatorcontrib>Isabella, Christine R.</creatorcontrib><creatorcontrib>Phelps, Ian G.</creatorcontrib><creatorcontrib>Stolarski, Allan E.</creatorcontrib><creatorcontrib>O’Roak, Brian J.</creatorcontrib><creatorcontrib>Dempsey, Jennifer C.</creatorcontrib><creatorcontrib>Lourenco, Charles</creatorcontrib><creatorcontrib>Alswaid, Abdulrahman</creatorcontrib><creatorcontrib>Bönnemann, Carsten G.</creatorcontrib><creatorcontrib>Medne, Livija</creatorcontrib><creatorcontrib>Nampoothiri, Sheela</creatorcontrib><creatorcontrib>Stark, Zornitza</creatorcontrib><creatorcontrib>Leventer, Richard J.</creatorcontrib><creatorcontrib>Topçu, Meral</creatorcontrib><creatorcontrib>Cansu, Ali</creatorcontrib><creatorcontrib>Jagadeesh, Sujatha</creatorcontrib><creatorcontrib>Done, Stephen</creatorcontrib><creatorcontrib>Ishak, Gisele E.</creatorcontrib><creatorcontrib>Glass, Ian A.</creatorcontrib><creatorcontrib>Shendure, Jay</creatorcontrib><creatorcontrib>Neuhauss, Stephan C.F.</creatorcontrib><creatorcontrib>Haldeman-Englert, Chad R.</creatorcontrib><creatorcontrib>Doherty, Dan</creatorcontrib><creatorcontrib>Ferland, Russell J.</creatorcontrib><title>Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy</title><title>American journal of human genetics</title><subject>Erratum</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNp9kc1qGzEUhUVpoM7PC3SlF5jplZT5gxIwkyZtSIghyVpImjseGVsykiaJV3n1jOsSyKarA_fwncvhEPKdQc6AlT9WuVoNy5wDO8-B5QDiC5mxQlRZWULxlcwAgGcNb6pv5DjGFQBjNYgZebsbk0rWu0ito-3DYsFoq8aIdBHsRoUdbe3aKjrXzoeNWttkMVLlOnrjR40h0Yed64LfIH2xaaA-_FU_JnqDo0M6j9th92qnH25JHwcflLGGXu5iCn5yTslRr9YRz_7pCXm6-vXY_s5u76__tPPbzAjepEyhaoquZqKCCkqleY_Q9LXhogFdgTaq4OdcF9NB8R5Kw8u-MaZDjaB7UYsTcnHI3Y56g51Bl4Jay-2hpPTKys-Os4Nc-mcpGl6XBUwB_BBggo8xYP_BMpD7DeRK7jeQ-w0kMDltMEE_DxBO1Z4tBhmNRWewswFNkp23_8PfAUeBlFQ</recordid><startdate>20140206</startdate><enddate>20140206</enddate><creator>Tuz, Karina</creator><creator>Bachmann-Gagescu, Ruxandra</creator><creator>O’Day, Diana R.</creator><creator>Hua, Kiet</creator><creator>Isabella, Christine R.</creator><creator>Phelps, Ian G.</creator><creator>Stolarski, Allan E.</creator><creator>O’Roak, Brian J.</creator><creator>Dempsey, Jennifer C.</creator><creator>Lourenco, Charles</creator><creator>Alswaid, Abdulrahman</creator><creator>Bönnemann, Carsten G.</creator><creator>Medne, Livija</creator><creator>Nampoothiri, Sheela</creator><creator>Stark, Zornitza</creator><creator>Leventer, Richard J.</creator><creator>Topçu, Meral</creator><creator>Cansu, Ali</creator><creator>Jagadeesh, Sujatha</creator><creator>Done, Stephen</creator><creator>Ishak, Gisele E.</creator><creator>Glass, Ian A.</creator><creator>Shendure, Jay</creator><creator>Neuhauss, Stephan C.F.</creator><creator>Haldeman-Englert, Chad R.</creator><creator>Doherty, Dan</creator><creator>Ferland, Russell J.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>20140206</creationdate><title>Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy</title><author>Tuz, Karina ; Bachmann-Gagescu, Ruxandra ; O’Day, Diana R. ; Hua, Kiet ; Isabella, Christine R. ; Phelps, Ian G. ; Stolarski, Allan E. ; O’Roak, Brian J. ; Dempsey, Jennifer C. ; Lourenco, Charles ; Alswaid, Abdulrahman ; Bönnemann, Carsten G. ; Medne, Livija ; Nampoothiri, Sheela ; Stark, Zornitza ; Leventer, Richard J. ; Topçu, Meral ; Cansu, Ali ; Jagadeesh, Sujatha ; Done, Stephen ; Ishak, Gisele E. ; Glass, Ian A. ; Shendure, Jay ; Neuhauss, Stephan C.F. ; Haldeman-Englert, Chad R. ; Doherty, Dan ; Ferland, Russell J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c329t-aea95d81370706ab2fe09f8c2390b70bca5242b5c23a2f06c26f9ccdebe0bf383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Erratum</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tuz, Karina</creatorcontrib><creatorcontrib>Bachmann-Gagescu, Ruxandra</creatorcontrib><creatorcontrib>O’Day, Diana R.</creatorcontrib><creatorcontrib>Hua, Kiet</creatorcontrib><creatorcontrib>Isabella, Christine R.</creatorcontrib><creatorcontrib>Phelps, Ian G.</creatorcontrib><creatorcontrib>Stolarski, Allan E.</creatorcontrib><creatorcontrib>O’Roak, Brian J.</creatorcontrib><creatorcontrib>Dempsey, Jennifer C.</creatorcontrib><creatorcontrib>Lourenco, Charles</creatorcontrib><creatorcontrib>Alswaid, Abdulrahman</creatorcontrib><creatorcontrib>Bönnemann, Carsten G.</creatorcontrib><creatorcontrib>Medne, Livija</creatorcontrib><creatorcontrib>Nampoothiri, Sheela</creatorcontrib><creatorcontrib>Stark, Zornitza</creatorcontrib><creatorcontrib>Leventer, Richard J.</creatorcontrib><creatorcontrib>Topçu, Meral</creatorcontrib><creatorcontrib>Cansu, Ali</creatorcontrib><creatorcontrib>Jagadeesh, Sujatha</creatorcontrib><creatorcontrib>Done, Stephen</creatorcontrib><creatorcontrib>Ishak, Gisele E.</creatorcontrib><creatorcontrib>Glass, Ian A.</creatorcontrib><creatorcontrib>Shendure, Jay</creatorcontrib><creatorcontrib>Neuhauss, Stephan C.F.</creatorcontrib><creatorcontrib>Haldeman-Englert, Chad R.</creatorcontrib><creatorcontrib>Doherty, Dan</creatorcontrib><creatorcontrib>Ferland, Russell J.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tuz, Karina</au><au>Bachmann-Gagescu, Ruxandra</au><au>O’Day, Diana R.</au><au>Hua, Kiet</au><au>Isabella, Christine R.</au><au>Phelps, Ian G.</au><au>Stolarski, Allan E.</au><au>O’Roak, Brian J.</au><au>Dempsey, Jennifer C.</au><au>Lourenco, Charles</au><au>Alswaid, Abdulrahman</au><au>Bönnemann, Carsten G.</au><au>Medne, Livija</au><au>Nampoothiri, Sheela</au><au>Stark, Zornitza</au><au>Leventer, Richard J.</au><au>Topçu, Meral</au><au>Cansu, Ali</au><au>Jagadeesh, Sujatha</au><au>Done, Stephen</au><au>Ishak, Gisele E.</au><au>Glass, Ian A.</au><au>Shendure, Jay</au><au>Neuhauss, Stephan C.F.</au><au>Haldeman-Englert, Chad R.</au><au>Doherty, Dan</au><au>Ferland, Russell J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy</atitle><jtitle>American journal of human genetics</jtitle><date>2014-02-06</date><risdate>2014</risdate><volume>94</volume><issue>2</issue><spage>310</spage><epage>310</epage><pages>310-310</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><pub>Elsevier Inc</pub><doi>10.1016/j.ajhg.2014.01.003</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 2014-02, Vol.94 (2), p.310-310 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3928650 |
| source | Elsevier ScienceDirect Journals Complete - AutoHoldings; Cell Press Free Archives; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Erratum |
| title | Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-13T12%3A40%3A44IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-elsevier_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutations%20in%20CSPP1%20Cause%20Primary%20Cilia%20Abnormalities%20and%20Joubert%20Syndrome%20with%20or%20without%20Jeune%20Asphyxiating%20Thoracic%20Dystrophy&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Tuz,%20Karina&rft.date=2014-02-06&rft.volume=94&rft.issue=2&rft.spage=310&rft.epage=310&rft.pages=310-310&rft.issn=0002-9297&rft.eissn=1537-6605&rft_id=info:doi/10.1016/j.ajhg.2014.01.003&rft_dat=%3Celsevier_pubme%3ES0002929714000044%3C/elsevier_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/&rft_els_id=S0002929714000044&rfr_iscdi=true |