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<meta name="keywords" content="C1291299, congenital hypothyroidism, tpo-related, deficiency of iodide peroxidase, deficiency of iodinase, disease or syndrome, familial thyroid dyshormonogenesis caused by mutation in tpo, hypothyroidism, congenital, due to dyshormonogenesis, 2a, iodide peroxidase deficiency, tdh2a, thyroid dyshormonogenesis 2a, thyroid dyshormonogenesis type 2a, thyroid hormonogenesis, genetic defect in, 2a, thyroid peroxidase deficiency, tpo, tpo familial thyroid dyshormonogenesis, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; 188450) to form iodotyrosine." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Deficiency of iodide peroxidase (Concept Id: C1291299)
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<!--
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||
UID=226940
|
||
ConceptID=C1291299
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Deficiency of iodide peroxidase<span class="h1sub">(TDH2A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1291299</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Congenital Hypothyroidism, TPO-Related; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A; IODIDE PEROXIDASE DEFICIENCY; TDH2A; Thyroid dyshormonogenesis 2A; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A; THYROID PEROXIDASE DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of iodinase (124204003); Deficiency of iodide peroxidase (124204003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TPO - ID: 7173 - NCBI Gene" href="/gene/7173" class="medgenPMinfo">TPO</a> (2p25.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010133" target="_blank">MONDO:0010133</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/274500" target="_blank">274500</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; 188450) to form iodotyrosine. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.<br /><br />Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.<br /><br />Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.<br /><br />Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism">https://medlineplus.gov/genetics/condition/congenital-hypothyroidism</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_42270"><div><strong>Goiter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An enlargement of the thyroid gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42270">Feature record</a> | <a href="/medgen?term=%22Goiter%22%5BClinical%20Features%5D%20OR%2042270%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6991"><div><strong>Hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6991</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of thyroid hormone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6991">Feature record</a> | <a href="/medgen?term=%22Hypothyroidism%22%5BClinical%20Features%5D%20OR%206991%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336419"><div><strong>Thyroid defect in oxidation and organification of iodide</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336419</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336419">Feature record</a> | <a href="/medgen?term=%22Thyroid%20defect%20in%20oxidation%20and%20organification%20of%20iodide%22%5BClinical%20Features%5D%20OR%20336419%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1611997"><div><strong>Decreased circulating T4 concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1611997</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4531078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1611997">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20T4%20concentration%22%5BClinical%20Features%5D%20OR%201611997%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1611997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating T4 concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Goiter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyroid defect in oxidation and organification of iodide</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0010308[DISCUI]&test_type=Clinical" ref="ncbi_uid=41344">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41344" ref="ncbi_uid=41344">V</a></span></span><span class="TLline"><a href="/medgen/41344" ref="tree=GTR&ncbi_uid=41344&link_uid=41344" title="View MedGen record for 'Congenital hypothyroidism'">Congenital hypothyroidism</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1291299[DISCUI]&test_type=Clinical" ref="ncbi_uid=226940">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=226940" target="_blank" href="/omim/274500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=226940" ref="ncbi_uid=226940">V</a></span></span><span class="TLline">Deficiency of iodide peroxidase</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3493776[DISCUI]&test_type=Clinical" ref="ncbi_uid=487729">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=487729" target="_blank" href="/omim/275200">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=487729" ref="ncbi_uid=487729">V</a></span></span><span class="TLline"><a href="/medgen/487729" ref="tree=GTR&ncbi_uid=487729&link_uid=487729" title="View MedGen record for 'Hypothyroidism due to TSH receptor mutations'">Hypothyroidism due to TSH receptor mutations</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1869118[DISCUI]&test_type=Clinical" ref="ncbi_uid=358389">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358389" target="_blank" href="/omim/167415">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358389" ref="ncbi_uid=358389">V</a></span></span><span class="TLline"><a href="/medgen/358389" ref="tree=GTR&ncbi_uid=358389&link_uid=358389" title="View MedGen record for 'Hypothyroidism, congenital, nongoitrous, 2'">Hypothyroidism, congenital, nongoitrous, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342195[DISCUI]&test_type=Clinical" ref="ncbi_uid=87429">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87429" target="_blank" href="/omim/274800">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87429" ref="ncbi_uid=87429">V</a></span></span><span class="TLline"><a href="/medgen/87429" ref="tree=GTR&ncbi_uid=87429&link_uid=87429" title="View MedGen record for 'Iodotyrosine deiodination defect'">Iodotyrosine deiodination defect</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271789[DISCUI]&test_type=Clinical" ref="ncbi_uid=78786">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78786" target="_blank" href="/omim/188540">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78786" ref="ncbi_uid=78786">V</a></span></span><span class="TLline"><a href="/medgen/78786" ref="tree=GTR&ncbi_uid=78786&link_uid=78786" title="View MedGen record for 'Isolated thyroid-stimulating hormone deficiency'">Isolated thyroid-stimulating hormone deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846632[DISCUI]&test_type=Clinical" ref="ncbi_uid=375935">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375935" target="_blank" href="/omim/606759">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375935" ref="ncbi_uid=375935">V</a></span></span><span class="TLline"><a href="/medgen/375935" ref="tree=GTR&ncbi_uid=375935&link_uid=375935" title="View MedGen record for 'Thyroid dyshormonogenesis 6'">Thyroid dyshormonogenesis 6</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/14183" ref="tree=MeSH" title="MedGen record for Bone Diseases, Endocrine">Bone Diseases, Endocrine</a></span><ul><li><span class="TLline"><a href="/medgen/41344" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism">Congenital hypothyroidism</a></span><ul><li><span class="matched_ds">Deficiency of iodide peroxidase</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26051299">Treatment of congenital thyroid dysfunction: Achievements and challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krude H,
|
||
Kühnen P,
|
||
Biebermann H</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2015 Jun;29(3):399-413.
|
||
Epub 2015 Apr 26
|
||
doi: 10.1016/j.beem.2015.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26051299" target="_blank">26051299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10543412">Incidence of sideropenia and effects of iron repletion treatment in women with subclinical hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duntas LH,
|
||
Papanastasiou L,
|
||
Mantzou E,
|
||
Koutras DA</span><br />
|
||
<span class="medgenPMjournal">Exp Clin Endocrinol Diabetes</span>
|
||
1999;107(6):356-60.
|
||
doi: 10.1055/s-0029-1212126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10543412" target="_blank">10543412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(deficiency%20of%20iodide%20peroxidase)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38607417">Higher prevalence of thyroid-specific autoantibodies (TPOAb and TgAb) is related to a higher prevalence of fractures in females: results from NHANES 2007-2010.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu J,
|
||
Li J,
|
||
Yan Z,
|
||
Yu X,
|
||
Huang H</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2024 Jul;35(7):1213-1221.
|
||
Epub 2024 Apr 12
|
||
doi: 10.1007/s00198-024-07083-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38607417" target="_blank">38607417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34954562">Epidemiological survey of the status of iodine nutrition and thyroid diseases in Guangxi, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meng LH,
|
||
Chen CH,
|
||
Liu Y,
|
||
Liang XH,
|
||
Zhou J,
|
||
Xian J,
|
||
Li L,
|
||
Zhang J,
|
||
Huang ZX,
|
||
Qin YF</span><br />
|
||
<span class="medgenPMjournal">J Trace Elem Med Biol</span>
|
||
2022 Mar;70:126918.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1016/j.jtemb.2021.126918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34954562" target="_blank">34954562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30208979">Multiple nutritional factors and thyroid disease, with particular reference to autoimmune thyroid disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rayman MP</span><br />
|
||
<span class="medgenPMjournal">Proc Nutr Soc</span>
|
||
2019 Feb;78(1):34-44.
|
||
Epub 2018 Sep 13
|
||
doi: 10.1017/S0029665118001192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30208979" target="_blank">30208979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23581474">Smoking and thyroid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiersinga WM</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2013 Aug;79(2):145-51.
|
||
Epub 2013 May 11
|
||
doi: 10.1111/cen.12222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23581474" target="_blank">23581474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19942155">Environmental pollutants and the thyroid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearce EN,
|
||
Braverman LE</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2009 Dec;23(6):801-13.
|
||
doi: 10.1016/j.beem.2009.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19942155" target="_blank">19942155</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20iodide%20peroxidase%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (119)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24629858">Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iglesias A,
|
||
García-Nimo L,
|
||
Cocho de Juan JA,
|
||
Moreno JC</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2014 Mar;28(2):151-9.
|
||
Epub 2013 Oct 29
|
||
doi: 10.1016/j.beem.2013.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24629858" target="_blank">24629858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20298747">Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moreno JC,
|
||
Visser TJ</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Endocrinol</span>
|
||
2010 Jun 30;322(1-2):91-8.
|
||
Epub 2010 Mar 16
|
||
doi: 10.1016/j.mce.2010.03.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20298747" target="_blank">20298747</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17574009">Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Refetoff S,
|
||
Dumitrescu AM</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2007 Jun;21(2):277-305.
|
||
doi: 10.1016/j.beem.2007.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17574009" target="_blank">17574009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16444159">Pendred syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glaser B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2003 Dec;1 Suppl 2:199-204; discussion 204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16444159" target="_blank">16444159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12566717">Neonatal thyroid disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grüters A,
|
||
Biebermann H,
|
||
Krude H</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2003;59 Suppl 1:24-9.
|
||
doi: 10.1159/000067841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12566717" target="_blank">12566717</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20iodide%20peroxidase%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (60)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34954562">Epidemiological survey of the status of iodine nutrition and thyroid diseases in Guangxi, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meng LH,
|
||
Chen CH,
|
||
Liu Y,
|
||
Liang XH,
|
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Zhou J,
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Xian J,
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Li L,
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Zhang J,
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Huang ZX,
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2022 Mar;70:126918.
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|
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<span class="bold">PMID: </span><a href="/pubmed/34954562" target="_blank">34954562</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/30208979">Multiple nutritional factors and thyroid disease, with particular reference to autoimmune thyroid disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rayman MP</span><br />
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<span class="medgenPMjournal">Proc Nutr Soc</span>
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2019 Feb;78(1):34-44.
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Epub 2018 Sep 13
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<span class="bold">PMID: </span><a href="/pubmed/30208979" target="_blank">30208979</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23581474">Smoking and thyroid.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wiersinga WM</span><br />
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2013 Aug;79(2):145-51.
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<span class="bold">PMID: </span><a href="/pubmed/23581474" target="_blank">23581474</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19942156">Selenium and thyroid.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Köhrle J,
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<div class="portlet_content ln"><span class="medgenPMauthor">Venturi S,
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<div class="nl"><a target="_blank" href="/pubmed/35789269">Increased Incidence of Hashimoto Thyroiditis in Selenium Deficiency: A Prospective 6-Year Cohort Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu Q,
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Wang Y,
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Wu Y,
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Zhao X,
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Peng X,
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2022 Aug 18;107(9):e3603-e3611.
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doi: 10.1210/clinem/dgac410.
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<span class="bold">PMID: </span><a href="/pubmed/35789269" target="_blank">35789269</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32471236">Selenium Deficiency Is Widespread and Spatially Dependent in Ethiopia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Belay A,
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Joy EJM,
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Chagumaira C,
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Zerfu D,
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Young SD,
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Bailey EH,
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Lark RM,
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<span class="medgenPMjournal">Nutrients</span>
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2020 May 27;12(6)
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<span class="bold">PMID: </span><a href="/pubmed/32471236" target="_blank">32471236</a><a href="/pmc/articles/PMC7353016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31867598">Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bruellman RJ,
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Watanabe Y,
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Ebrhim RS,
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Creech MK,
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Abdullah MA,
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Dumitrescu AM,
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Refetoff S,
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Weiss RE</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2020 May 1;105(5):1564-72.
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doi: 10.1210/clinem/dgz297.
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<span class="bold">PMID: </span><a href="/pubmed/31867598" target="_blank">31867598</a><a href="/pmc/articles/PMC7093074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/19398053">Selenium and thyroid hormone axis in critical ill states: an overview of conflicting view points.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gärtner R</span><br />
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<span class="medgenPMjournal">J Trace Elem Med Biol</span>
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2009;23(2):71-4.
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Epub 2009 Feb 25
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doi: 10.1016/j.jtemb.2009.01.001.
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<span class="bold">PMID: </span><a href="/pubmed/19398053" target="_blank">19398053</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/12192542">The continuing importance of thyroid scintigraphy in the era of high-resolution ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meller J,
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Becker W</span><br />
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<span class="medgenPMjournal">Eur J Nucl Med Mol Imaging</span>
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2002 Aug;29 Suppl 2:S425-38.
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Epub 2002 May 15
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doi: 10.1007/s00259-002-0811-8.
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<span class="bold">PMID: </span><a href="/pubmed/12192542" target="_blank">12192542</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20iodide%20peroxidase%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35262098">Determination of 3-monoiodotyrosine and 3,5-diiodotyrosine in newborn urine and dried urine spots by isotope dilution tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carcelén JN,
|
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Marchante-Gayón JM,
|
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Rodríguez-González P,
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Ballesteros A,
|
||
González JM,
|
||
Cocho de Juan JÁ,
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García Alonso JI</span><br />
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<span class="medgenPMjournal">Analyst</span>
|
||
2022 Mar 28;147(7):1329-1340.
|
||
doi: 10.1039/d1an02203b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35262098" target="_blank">35262098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30208979">Multiple nutritional factors and thyroid disease, with particular reference to autoimmune thyroid disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rayman MP</span><br />
|
||
<span class="medgenPMjournal">Proc Nutr Soc</span>
|
||
2019 Feb;78(1):34-44.
|
||
Epub 2018 Sep 13
|
||
doi: 10.1017/S0029665118001192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30208979" target="_blank">30208979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23581474">Smoking and thyroid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiersinga WM</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2013 Aug;79(2):145-51.
|
||
Epub 2013 May 11
|
||
doi: 10.1111/cen.12222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23581474" target="_blank">23581474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16131329">Structure and function of the type 3 deiodinase gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hernandez A</span><br />
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<span class="medgenPMjournal">Thyroid</span>
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2005 Aug;15(8):865-74.
|
||
doi: 10.1089/thy.2005.15.865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16131329" target="_blank">16131329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8427197">Selenium and the thyroid: how the relationship was established.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corvilain B,
|
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Contempré B,
|
||
Longombé AO,
|
||
Goyens P,
|
||
Gervy-Decoster C,
|
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Lamy F,
|
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Vanderpas JB,
|
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Dumont JE</span><br />
|
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<span class="medgenPMjournal">Am J Clin Nutr</span>
|
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1993 Feb;57(2 Suppl):244S-248S.
|
||
doi: 10.1093/ajcn/57.2.244S.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8427197" target="_blank">8427197</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20iodide%20peroxidase%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (83)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1291299%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C1291299%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1291299%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1291299%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1291299%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
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</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=274500" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Deficiency%20of%20iodide%20peroxidase" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(deficiency%20of%20iodide%20peroxidase)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606765" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7173[geneid]" target="_blank">View TPO variations in ClinVar</a></li><li><a href="/nuccore/224967082" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=274500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Deficiency+of+iodide+peroxidase/8201" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/thyroid_dyshormonogenesis_2a" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Deficiency%20of%20iodide%20peroxidase" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18189/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
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||
<div class="portlet_head">
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Deficiency%20of%20iodide%20peroxidase" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Deficiency%20of%20iodide%20peroxidase%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
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</div>
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<div class="portlet_head">
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<div class="portlet_title">
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||
<h3>Related information</h3>
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||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=226940" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=226940" ref="log$=recordlinks">Gene</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1291299[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1291299[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=226940" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=226940" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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Turn Off
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Turn On
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb4db484f3725e59202740">Deficiency of iodide peroxidase</a>
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<div class="ralinkpop offscreen_noflow">Deficiency of iodide peroxidase<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb4db3f4a390645e24852b">C1291299[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb4db2b15b832ebcef5d0b">C0268601[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(34)</span></a>
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<div class="ralinkpop offscreen_noflow">C0268601[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb4db1f4a390645e247707">C1291490[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(41)</span></a>
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<div class="ralinkpop offscreen_noflow">C1291490[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb4db084f3725e59200efd">C0574080[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(46)</span></a>
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<div class="ralinkpop offscreen_noflow">C0574080[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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