Loading…
Clinical utility gene card: for pseudoxanthoma elasticum
Saved in:
Published in: | European journal of human genetics : EJHG 2018-06, Vol.26 (6), p.919-924 |
---|---|
Main Authors: | , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
cited_by | cdi_FETCH-LOGICAL-c461t-58389f3c6803d3e56e132fb21d78b25781b0902d989bdeb983ea3872a04595bb3 |
---|---|
cites | cdi_FETCH-LOGICAL-c461t-58389f3c6803d3e56e132fb21d78b25781b0902d989bdeb983ea3872a04595bb3 |
container_end_page | 924 |
container_issue | 6 |
container_start_page | 919 |
container_title | European journal of human genetics : EJHG |
container_volume | 26 |
creator | Legrand, Anne Benistan, Karelle Mazzella, Jean Michael Adham, Salma Frank, Michael Jeunemaitre, Xavier Albuisson, Juliette |
description | |
doi_str_mv | 10.1038/s41431-017-0090-2 |
format | article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5974343</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2046590883</sourcerecordid><originalsourceid>FETCH-LOGICAL-c461t-58389f3c6803d3e56e132fb21d78b25781b0902d989bdeb983ea3872a04595bb3</originalsourceid><addsrcrecordid>eNpdkU9P3DAQxa2qVfnXD8AFReoFDgGPx45tDkho1RaklXqBs-UkDmuUxIudIPj2dbQUtZxseX7vzXgeIcdAz4GiukgcOEJJQZaUalqyT2QfuKxKwVF9zncKquQKcI8cpPRIaS5K-Er2mOZKcpD7RK16P_rG9sU8-d5Pr8WDG13R2NheFl2IxTa5uQ0vdpw2YbCF622afDMPR-RLZ_vkvr2dh-T-54-71U25_v3rdnW9LhtewVQKhUp32FSKYotOVA6QdTWDVqqaCamgzpOzVitdt67WCp1FJZmlXGhR13hIrna-27keXNu4cYq2N9voBxtfTbDe_F8Z_cY8hGcjtOTIMRuc7Qw2H2Q312uzvFGsJIDAZ8js6VuzGJ5mlyYz-NS4vrejC3MyLK-ZAdNssf3-AX0McxzzKjLFK6GpUgsFO6qJIaXouvcJgJolQ7PL0OQMzZKhYVlz8u-P3xV_Q8M_vGuVaw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2046590883</pqid></control><display><type>article</type><title>Clinical utility gene card: for pseudoxanthoma elasticum</title><source>Springer Link</source><source>PubMed Central</source><creator>Legrand, Anne ; Benistan, Karelle ; Mazzella, Jean Michael ; Adham, Salma ; Frank, Michael ; Jeunemaitre, Xavier ; Albuisson, Juliette</creator><creatorcontrib>Legrand, Anne ; Benistan, Karelle ; Mazzella, Jean Michael ; Adham, Salma ; Frank, Michael ; Jeunemaitre, Xavier ; Albuisson, Juliette</creatorcontrib><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/s41431-017-0090-2</identifier><identifier>PMID: 29487417</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Clinical Utility Gene Card ; Disorders of Sex Development - diagnosis ; Disorders of Sex Development - genetics ; Disorders of Sex Development - pathology ; Genetics ; Human genetics ; Humans ; Life Sciences ; Pseudoxanthoma Elasticum - diagnosis ; Pseudoxanthoma Elasticum - genetics ; Pseudoxanthoma Elasticum - pathology</subject><ispartof>European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.919-924</ispartof><rights>Copyright Nature Publishing Group Jun 2018</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><rights>European Society of Human Genetics 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c461t-58389f3c6803d3e56e132fb21d78b25781b0902d989bdeb983ea3872a04595bb3</citedby><cites>FETCH-LOGICAL-c461t-58389f3c6803d3e56e132fb21d78b25781b0902d989bdeb983ea3872a04595bb3</cites><orcidid>0000-0001-5703-3493 ; 0000-0001-8451-0523 ; 0000-0002-8947-6499 ; 0000-0001-5925-381X ; 0000-0003-2955-0922</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974343/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974343/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27923,27924,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29487417$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-03671153$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Legrand, Anne</creatorcontrib><creatorcontrib>Benistan, Karelle</creatorcontrib><creatorcontrib>Mazzella, Jean Michael</creatorcontrib><creatorcontrib>Adham, Salma</creatorcontrib><creatorcontrib>Frank, Michael</creatorcontrib><creatorcontrib>Jeunemaitre, Xavier</creatorcontrib><creatorcontrib>Albuisson, Juliette</creatorcontrib><title>Clinical utility gene card: for pseudoxanthoma elasticum</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><subject>Clinical Utility Gene Card</subject><subject>Disorders of Sex Development - diagnosis</subject><subject>Disorders of Sex Development - genetics</subject><subject>Disorders of Sex Development - pathology</subject><subject>Genetics</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Pseudoxanthoma Elasticum - diagnosis</subject><subject>Pseudoxanthoma Elasticum - genetics</subject><subject>Pseudoxanthoma Elasticum - pathology</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNpdkU9P3DAQxa2qVfnXD8AFReoFDgGPx45tDkho1RaklXqBs-UkDmuUxIudIPj2dbQUtZxseX7vzXgeIcdAz4GiukgcOEJJQZaUalqyT2QfuKxKwVF9zncKquQKcI8cpPRIaS5K-Er2mOZKcpD7RK16P_rG9sU8-d5Pr8WDG13R2NheFl2IxTa5uQ0vdpw2YbCF622afDMPR-RLZ_vkvr2dh-T-54-71U25_v3rdnW9LhtewVQKhUp32FSKYotOVA6QdTWDVqqaCamgzpOzVitdt67WCp1FJZmlXGhR13hIrna-27keXNu4cYq2N9voBxtfTbDe_F8Z_cY8hGcjtOTIMRuc7Qw2H2Q312uzvFGsJIDAZ8js6VuzGJ5mlyYz-NS4vrejC3MyLK-ZAdNssf3-AX0McxzzKjLFK6GpUgsFO6qJIaXouvcJgJolQ7PL0OQMzZKhYVlz8u-P3xV_Q8M_vGuVaw</recordid><startdate>20180601</startdate><enddate>20180601</enddate><creator>Legrand, Anne</creator><creator>Benistan, Karelle</creator><creator>Mazzella, Jean Michael</creator><creator>Adham, Salma</creator><creator>Frank, Michael</creator><creator>Jeunemaitre, Xavier</creator><creator>Albuisson, Juliette</creator><general>Nature Publishing Group</general><general>Springer International Publishing</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>1XC</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-5703-3493</orcidid><orcidid>https://orcid.org/0000-0001-8451-0523</orcidid><orcidid>https://orcid.org/0000-0002-8947-6499</orcidid><orcidid>https://orcid.org/0000-0001-5925-381X</orcidid><orcidid>https://orcid.org/0000-0003-2955-0922</orcidid></search><sort><creationdate>20180601</creationdate><title>Clinical utility gene card: for pseudoxanthoma elasticum</title><author>Legrand, Anne ; Benistan, Karelle ; Mazzella, Jean Michael ; Adham, Salma ; Frank, Michael ; Jeunemaitre, Xavier ; Albuisson, Juliette</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c461t-58389f3c6803d3e56e132fb21d78b25781b0902d989bdeb983ea3872a04595bb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Clinical Utility Gene Card</topic><topic>Disorders of Sex Development - diagnosis</topic><topic>Disorders of Sex Development - genetics</topic><topic>Disorders of Sex Development - pathology</topic><topic>Genetics</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Pseudoxanthoma Elasticum - diagnosis</topic><topic>Pseudoxanthoma Elasticum - genetics</topic><topic>Pseudoxanthoma Elasticum - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Legrand, Anne</creatorcontrib><creatorcontrib>Benistan, Karelle</creatorcontrib><creatorcontrib>Mazzella, Jean Michael</creatorcontrib><creatorcontrib>Adham, Salma</creatorcontrib><creatorcontrib>Frank, Michael</creatorcontrib><creatorcontrib>Jeunemaitre, Xavier</creatorcontrib><creatorcontrib>Albuisson, Juliette</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 & 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)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</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 & Medical Complete (Alumni)</collection><collection>Biological Sciences</collection><collection>Health & 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>Hyper Article en Ligne (HAL)</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>Legrand, Anne</au><au>Benistan, Karelle</au><au>Mazzella, Jean Michael</au><au>Adham, Salma</au><au>Frank, Michael</au><au>Jeunemaitre, Xavier</au><au>Albuisson, Juliette</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical utility gene card: for pseudoxanthoma elasticum</atitle><jtitle>European journal of human genetics : EJHG</jtitle><addtitle>Eur J Hum Genet</addtitle><date>2018-06-01</date><risdate>2018</risdate><volume>26</volume><issue>6</issue><spage>919</spage><epage>924</epage><pages>919-924</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><cop>England</cop><pub>Nature Publishing Group</pub><pmid>29487417</pmid><doi>10.1038/s41431-017-0090-2</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0001-5703-3493</orcidid><orcidid>https://orcid.org/0000-0001-8451-0523</orcidid><orcidid>https://orcid.org/0000-0002-8947-6499</orcidid><orcidid>https://orcid.org/0000-0001-5925-381X</orcidid><orcidid>https://orcid.org/0000-0003-2955-0922</orcidid><oa>free_for_read</oa></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1018-4813 |
ispartof | European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.919-924 |
issn | 1018-4813 1476-5438 |
language | eng |
recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5974343 |
source | Springer Link; PubMed Central |
subjects | Clinical Utility Gene Card Disorders of Sex Development - diagnosis Disorders of Sex Development - genetics Disorders of Sex Development - pathology Genetics Human genetics Humans Life Sciences Pseudoxanthoma Elasticum - diagnosis Pseudoxanthoma Elasticum - genetics Pseudoxanthoma Elasticum - pathology |
title | Clinical utility gene card: for pseudoxanthoma elasticum |
url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-09T04%3A25%3A00IST&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%20pseudoxanthoma%20elasticum&rft.jtitle=European%20journal%20of%20human%20genetics%20:%20EJHG&rft.au=Legrand,%20Anne&rft.date=2018-06-01&rft.volume=26&rft.issue=6&rft.spage=919&rft.epage=924&rft.pages=919-924&rft.issn=1018-4813&rft.eissn=1476-5438&rft_id=info:doi/10.1038/s41431-017-0090-2&rft_dat=%3Cproquest_pubme%3E2046590883%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c461t-58389f3c6803d3e56e132fb21d78b25781b0902d989bdeb983ea3872a04595bb3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2046590883&rft_id=info:pmid/29487417&rfr_iscdi=true |