A New Case of Resistance to Thyroid Hormone Caused by a De Novo P453T Mutation in the Thyroid Hormone Receptor Gene in an Israeli Child
Gespeichert in:
Veröffentlicht in: | Thyroid (New York, N.Y.) N.Y.), 2003-04, Vol.13 (4), p.49-412 |
---|---|
Hauptverfasser: | , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 412 |
---|---|
container_issue | 4 |
container_start_page | 49 |
container_title | Thyroid (New York, N.Y.) |
container_volume | 13 |
creator | Ishay, Avraham Dumitrescu, Alexandra Luboshitzky, Rafael Rakover, Yardena Refetoff, Samuel |
description | |
doi_str_mv | 10.1089/105072503321669938 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73377835</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>73377835</sourcerecordid><originalsourceid>FETCH-LOGICAL-c348t-e945cd1e7818310693a0a366539145aa006d0cfe6eaa1110b2b89f90367500ce3</originalsourceid><addsrcrecordid>eNqN0Mtu1DAUBmALUdFSeAEW6KzYBY7j-LasBmgr9aZqWEdOcqIxysSD7RTNE_DauJqRWHTDyhd9_7_4GfvA8TNHY79wlKhriULUXClrhXnFzriUurKo9etyL6AqQp2ytyn9ROTKaPGGnfLaYMN5fcb-XMAd_YaVSwRhhEdKPmU39wQ5wHqzj8EPcBXiNsxU1JJogG4PDr4S3IWnAA-NFGu4XbLLPszgZ8gbepF8pJ52OUS4pPIqyM1wnaKjycNq46fhHTsZ3ZTo_fE8Zz--f1uvrqqb-8vr1cVN1YvG5IpsI_uBkzbcCI7KCodOKCWF5Y10DlEN2I-kyDnOOXZ1Z-xoUSgtEXsS5-zToXcXw6-FUm63PvU0TW6msKRWC6G1EbLA-gD7GFKKNLa76Lcu7luO7fP87cv5S-jjsX3ptjT8ixz3LsAcwPO3m-fJU0cx_0_3X2S4jsc</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>73377835</pqid></control><display><type>article</type><title>A New Case of Resistance to Thyroid Hormone Caused by a De Novo P453T Mutation in the Thyroid Hormone Receptor Gene in an Israeli Child</title><source>Mary Ann Liebert Online Subscription</source><source>MEDLINE</source><creator>Ishay, Avraham ; Dumitrescu, Alexandra ; Luboshitzky, Rafael ; Rakover, Yardena ; Refetoff, Samuel</creator><creatorcontrib>Ishay, Avraham ; Dumitrescu, Alexandra ; Luboshitzky, Rafael ; Rakover, Yardena ; Refetoff, Samuel</creatorcontrib><identifier>ISSN: 1050-7256</identifier><identifier>EISSN: 1557-9077</identifier><identifier>DOI: 10.1089/105072503321669938</identifier><identifier>PMID: 12804112</identifier><language>eng</language><publisher>United States: Mary Ann Liebert, Inc</publisher><subject>Child ; Drug Resistance ; Female ; Humans ; Israel ; Letter to the Editor ; Mutation ; Pedigree ; Proline - genetics ; Receptors, Thyroid Hormone - genetics ; Threonine - genetics ; Thyroid Hormones - metabolism</subject><ispartof>Thyroid (New York, N.Y.), 2003-04, Vol.13 (4), p.49-412</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c348t-e945cd1e7818310693a0a366539145aa006d0cfe6eaa1110b2b89f90367500ce3</citedby><cites>FETCH-LOGICAL-c348t-e945cd1e7818310693a0a366539145aa006d0cfe6eaa1110b2b89f90367500ce3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.liebertpub.com/doi/epdf/10.1089/105072503321669938$$EPDF$$P50$$Gmaryannliebert$$H</linktopdf><linktohtml>$$Uhttps://www.liebertpub.com/doi/full/10.1089/105072503321669938$$EHTML$$P50$$Gmaryannliebert$$H</linktohtml><link.rule.ids>314,776,780,3029,21702,27901,27902,55266,55278</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12804112$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ishay, Avraham</creatorcontrib><creatorcontrib>Dumitrescu, Alexandra</creatorcontrib><creatorcontrib>Luboshitzky, Rafael</creatorcontrib><creatorcontrib>Rakover, Yardena</creatorcontrib><creatorcontrib>Refetoff, Samuel</creatorcontrib><title>A New Case of Resistance to Thyroid Hormone Caused by a De Novo P453T Mutation in the Thyroid Hormone Receptor Gene in an Israeli Child</title><title>Thyroid (New York, N.Y.)</title><addtitle>Thyroid</addtitle><subject>Child</subject><subject>Drug Resistance</subject><subject>Female</subject><subject>Humans</subject><subject>Israel</subject><subject>Letter to the Editor</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Proline - genetics</subject><subject>Receptors, Thyroid Hormone - genetics</subject><subject>Threonine - genetics</subject><subject>Thyroid Hormones - metabolism</subject><issn>1050-7256</issn><issn>1557-9077</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0Mtu1DAUBmALUdFSeAEW6KzYBY7j-LasBmgr9aZqWEdOcqIxysSD7RTNE_DauJqRWHTDyhd9_7_4GfvA8TNHY79wlKhriULUXClrhXnFzriUurKo9etyL6AqQp2ytyn9ROTKaPGGnfLaYMN5fcb-XMAd_YaVSwRhhEdKPmU39wQ5wHqzj8EPcBXiNsxU1JJogG4PDr4S3IWnAA-NFGu4XbLLPszgZ8gbepF8pJ52OUS4pPIqyM1wnaKjycNq46fhHTsZ3ZTo_fE8Zz--f1uvrqqb-8vr1cVN1YvG5IpsI_uBkzbcCI7KCodOKCWF5Y10DlEN2I-kyDnOOXZ1Z-xoUSgtEXsS5-zToXcXw6-FUm63PvU0TW6msKRWC6G1EbLA-gD7GFKKNLa76Lcu7luO7fP87cv5S-jjsX3ptjT8ixz3LsAcwPO3m-fJU0cx_0_3X2S4jsc</recordid><startdate>20030401</startdate><enddate>20030401</enddate><creator>Ishay, Avraham</creator><creator>Dumitrescu, Alexandra</creator><creator>Luboshitzky, Rafael</creator><creator>Rakover, Yardena</creator><creator>Refetoff, Samuel</creator><general>Mary Ann Liebert, Inc</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>7X8</scope></search><sort><creationdate>20030401</creationdate><title>A New Case of Resistance to Thyroid Hormone Caused by a De Novo P453T Mutation in the Thyroid Hormone Receptor Gene in an Israeli Child</title><author>Ishay, Avraham ; Dumitrescu, Alexandra ; Luboshitzky, Rafael ; Rakover, Yardena ; Refetoff, Samuel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c348t-e945cd1e7818310693a0a366539145aa006d0cfe6eaa1110b2b89f90367500ce3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Child</topic><topic>Drug Resistance</topic><topic>Female</topic><topic>Humans</topic><topic>Israel</topic><topic>Letter to the Editor</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Proline - genetics</topic><topic>Receptors, Thyroid Hormone - genetics</topic><topic>Threonine - genetics</topic><topic>Thyroid Hormones - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ishay, Avraham</creatorcontrib><creatorcontrib>Dumitrescu, Alexandra</creatorcontrib><creatorcontrib>Luboshitzky, Rafael</creatorcontrib><creatorcontrib>Rakover, Yardena</creatorcontrib><creatorcontrib>Refetoff, Samuel</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Thyroid (New York, N.Y.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ishay, Avraham</au><au>Dumitrescu, Alexandra</au><au>Luboshitzky, Rafael</au><au>Rakover, Yardena</au><au>Refetoff, Samuel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A New Case of Resistance to Thyroid Hormone Caused by a De Novo P453T Mutation in the Thyroid Hormone Receptor Gene in an Israeli Child</atitle><jtitle>Thyroid (New York, N.Y.)</jtitle><addtitle>Thyroid</addtitle><date>2003-04-01</date><risdate>2003</risdate><volume>13</volume><issue>4</issue><spage>49</spage><epage>412</epage><pages>49-412</pages><issn>1050-7256</issn><eissn>1557-9077</eissn><cop>United States</cop><pub>Mary Ann Liebert, Inc</pub><pmid>12804112</pmid><doi>10.1089/105072503321669938</doi><tpages>364</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1050-7256 |
ispartof | Thyroid (New York, N.Y.), 2003-04, Vol.13 (4), p.49-412 |
issn | 1050-7256 1557-9077 |
language | eng |
recordid | cdi_proquest_miscellaneous_73377835 |
source | Mary Ann Liebert Online Subscription; MEDLINE |
subjects | Child Drug Resistance Female Humans Israel Letter to the Editor Mutation Pedigree Proline - genetics Receptors, Thyroid Hormone - genetics Threonine - genetics Thyroid Hormones - metabolism |
title | A New Case of Resistance to Thyroid Hormone Caused by a De Novo P453T Mutation in the Thyroid Hormone Receptor Gene in an Israeli Child |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-09T03%3A11%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20New%20Case%20of%20Resistance%20to%20Thyroid%20Hormone%20Caused%20by%20a%20De%20Novo%20P453T%20Mutation%20in%20the%20Thyroid%20Hormone%20Receptor%20Gene%20in%20an%20Israeli%20Child&rft.jtitle=Thyroid%20(New%20York,%20N.Y.)&rft.au=Ishay,%20Avraham&rft.date=2003-04-01&rft.volume=13&rft.issue=4&rft.spage=49&rft.epage=412&rft.pages=49-412&rft.issn=1050-7256&rft.eissn=1557-9077&rft_id=info:doi/10.1089/105072503321669938&rft_dat=%3Cproquest_cross%3E73377835%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=73377835&rft_id=info:pmid/12804112&rfr_iscdi=true |