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<!--
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||
UID=369895
|
||
ConceptID=C1968958
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Subependymal nodules</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369895</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.">C1968958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009716">HP:0009716</a></td></tr>
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</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">
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<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">Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Subependymal nodules</span></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/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/88335" ref="tree=MeSH" title="MedGen record for Neoplasm of the central nervous system">Neoplasm of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/488882" ref="tree=MeSH" title="MedGen record for Benign neoplasm of the central nervous system">Benign neoplasm of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/869788" ref="tree=MeSH" title="MedGen record for Cerebral hamartoma">Cerebral hamartoma</a></span><ul><li><span class="matched_ds">Subependymal nodules</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_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_344288"><div><strong>Tuberous sclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344288</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.">C1854465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348170"><div><strong>Tuberous sclerosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348170</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.">C1860707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348170">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 2</a></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/37536734">Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bekiesinska-Figatowska M,
|
||
Sobieraj P,
|
||
Pasieczna M,
|
||
Szymkiewicz-Dangel J</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2023 Sep;44(9):1070-1076.
|
||
Epub 2023 Aug 3
|
||
doi: 10.3174/ajnr.A7952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37536734" target="_blank">37536734</a><a href="/pmc/articles/PMC10494953" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35142283">Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shang S,
|
||
Mei Y,
|
||
Wang T,
|
||
Zheng X,
|
||
Chen K,
|
||
Xiong S,
|
||
Dong Y,
|
||
Chang Y,
|
||
Wu X,
|
||
Kong X,
|
||
Tan M,
|
||
Wu L,
|
||
Zhang Y,
|
||
Xiao Y,
|
||
Xie Y,
|
||
Cai G,
|
||
Chen X,
|
||
Li Q</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2022 Jun;97(6):328-338.
|
||
doi: 10.5414/CN110476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35142283" target="_blank">35142283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24771286">Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rovira À,
|
||
Ruiz-Falcó ML,
|
||
García-Esparza E,
|
||
López-Laso E,
|
||
Macaya A,
|
||
Málaga I,
|
||
Vázquez É,
|
||
Vicente J</span><br />
|
||
<span class="medgenPMjournal">J Neurooncol</span>
|
||
2014 Jun;118(2):205-223.
|
||
Epub 2014 Apr 27
|
||
doi: 10.1007/s11060-014-1429-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24771286" target="_blank">24771286</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22subependymal%20nodules%22%5Btiab%3A~0%5D)%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 (10)</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/38806662">Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milon V,
|
||
Malinge MC,
|
||
Blanluet M,
|
||
Tessarech M,
|
||
Battault C,
|
||
Prestwich S,
|
||
Vary B,
|
||
Gueracher P,
|
||
Legoff L,
|
||
Barth M,
|
||
Houdayer C,
|
||
Guichet A,
|
||
Rousseau A,
|
||
Bonneau D,
|
||
Procaccio V,
|
||
Bris C,
|
||
Colin E</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Dec;32(12):1590-1598.
|
||
Epub 2024 May 28
|
||
doi: 10.1038/s41431-024-01631-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38806662" target="_blank">38806662</a><a href="/pmc/articles/PMC11606953" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34534018">Tuberous Sclerosis: Current Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang MX,
|
||
Segaran N,
|
||
Bhalla S,
|
||
Pickhardt PJ,
|
||
Lubner MG,
|
||
Katabathina VS,
|
||
Ganeshan D</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2021 Nov-Dec;41(7):1992-2010.
|
||
Epub 2021 Sep 17
|
||
doi: 10.1148/rg.2021210103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34534018" target="_blank">34534018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24325802">Arachnoid cysts in tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boronat S,
|
||
Caruso P,
|
||
Auladell M,
|
||
Van Eeghen A,
|
||
Thiele EA</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2014 Oct;36(9):801-6.
|
||
Epub 2013 Dec 8
|
||
doi: 10.1016/j.braindev.2013.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24325802" target="_blank">24325802</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11112665">Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dabora SL,
|
||
Jozwiak S,
|
||
Franz DN,
|
||
Roberts PS,
|
||
Nieto A,
|
||
Chung J,
|
||
Choy YS,
|
||
Reeve MP,
|
||
Thiele E,
|
||
Egelhoff JC,
|
||
Kasprzyk-Obara J,
|
||
Domanska-Pakiela D,
|
||
Kwiatkowski DJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2001 Jan;68(1):64-80.
|
||
Epub 2000 Dec 8
|
||
doi: 10.1086/316951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11112665" target="_blank">11112665</a><a href="/pmc/articles/PMC1234935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3493666">MR imaging of intracranial tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McMurdo SK Jr,
|
||
Moore SG,
|
||
Brant-Zawadzki M,
|
||
Berg BO,
|
||
Koch T,
|
||
Newton TH,
|
||
Edwards MS</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
1987 Apr;148(4):791-6.
|
||
doi: 10.2214/ajr.148.4.791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3493666" target="_blank">3493666</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subependymal%20nodules%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 (67)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34534018">Tuberous Sclerosis: Current Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang MX,
|
||
Segaran N,
|
||
Bhalla S,
|
||
Pickhardt PJ,
|
||
Lubner MG,
|
||
Katabathina VS,
|
||
Ganeshan D</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2021 Nov-Dec;41(7):1992-2010.
|
||
Epub 2021 Sep 17
|
||
doi: 10.1148/rg.2021210103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34534018" target="_blank">34534018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31466597">Phakomatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker B,
|
||
Strowd RE 3rd</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2019 Oct;37(4):583-606.
|
||
doi: 10.1016/j.det.2019.05.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31466597" target="_blank">31466597</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30279084">Diagnosis of tuberous sclerosis complex in the fetus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dragoumi P,
|
||
O'Callaghan F,
|
||
Zafeiriou DI</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2018 Nov;22(6):1027-1034.
|
||
Epub 2018 Sep 12
|
||
doi: 10.1016/j.ejpn.2018.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30279084" target="_blank">30279084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30156054">Less common manifestations in TSC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boronat S,
|
||
Barber I</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Sep;178(3):348-354.
|
||
Epub 2018 Aug 29
|
||
doi: 10.1002/ajmg.c.31648.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30156054" target="_blank">30156054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1549677">MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braffman BH,
|
||
Bilaniuk LT,
|
||
Naidich TP,
|
||
Altman NR,
|
||
Post MJ,
|
||
Quencer RM,
|
||
Zimmerman RA,
|
||
Brody BA</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1992 Apr;183(1):227-38.
|
||
doi: 10.1148/radiology.183.1.1549677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1549677" target="_blank">1549677</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subependymal%20nodules%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 (132)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39475505">Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Olivares JL,
|
||
González-Sánchez HR,
|
||
Beas-Lozano EL,
|
||
Arteaga-Vázquez J,
|
||
Elaine T Lam Md,
|
||
Bourlon MT</span><br />
|
||
<span class="medgenPMjournal">Oncology (Williston Park)</span>
|
||
2024 Oct 17;38(10):376-380.
|
||
doi: 10.46883/2024.25921027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39475505" target="_blank">39475505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36074682">Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craiu DC,
|
||
Bastian AE,
|
||
Zurac SA,
|
||
Băilă SL,
|
||
Croitoru M,
|
||
Craiu M,
|
||
Diaconu R,
|
||
Vinţan MA,
|
||
Bârcă DG</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2022 Jan-Mar;63(1):181-189.
|
||
doi: 10.47162/RJME.63.1.19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36074682" target="_blank">36074682</a><a href="/pmc/articles/PMC9593110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34532765">Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shrot S,
|
||
Lawson P,
|
||
Shlomovitz O,
|
||
Hoffmann C,
|
||
Shrot A,
|
||
Ben-Zeev B,
|
||
Tzadok M</span><br />
|
||
<span class="medgenPMjournal">Neuroradiology</span>
|
||
2022 Mar;64(3):611-620.
|
||
Epub 2021 Sep 16
|
||
doi: 10.1007/s00234-021-02789-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34532765" target="_blank">34532765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31742705">Fetal cardiac rhabdomyomas treated with maternal sirolimus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pluym ID,
|
||
Sklansky M,
|
||
Wu JY,
|
||
Afshar Y,
|
||
Holliman K,
|
||
Devore GR,
|
||
Walden A,
|
||
Platt LD,
|
||
Krakow D</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Feb;40(3):358-364.
|
||
Epub 2020 Jan 2
|
||
doi: 10.1002/pd.5613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31742705" target="_blank">31742705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30413450">Lymphangioleiomyomatosis (LAM) presenting as recurrent pneumothorax in an infant with tuberous sclerosis: treated successfully with sirolimus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takia L,
|
||
Jat KR,
|
||
Mandal A,
|
||
Kabra SK</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2018 Nov 8;2018
|
||
doi: 10.1136/bcr-2018-226244.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30413450" target="_blank">30413450</a><a href="/pmc/articles/PMC6229132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subependymal%20nodules%22%20AND%20Therapy%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39461057">Prediction of epileptogenicity in patients with tuberous sclerosis complex using multimodal cerebral MRI.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li W,
|
||
Sha L,
|
||
Zhu J,
|
||
Long F,
|
||
Chen L</span><br />
|
||
<span class="medgenPMjournal">Eur J Radiol</span>
|
||
2024 Dec;181:111800.
|
||
Epub 2024 Oct 22
|
||
doi: 10.1016/j.ejrad.2024.111800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39461057" target="_blank">39461057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35142283">Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shang S,
|
||
Mei Y,
|
||
Wang T,
|
||
Zheng X,
|
||
Chen K,
|
||
Xiong S,
|
||
Dong Y,
|
||
Chang Y,
|
||
Wu X,
|
||
Kong X,
|
||
Tan M,
|
||
Wu L,
|
||
Zhang Y,
|
||
Xiao Y,
|
||
Xie Y,
|
||
Cai G,
|
||
Chen X,
|
||
Li Q</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2022 Jun;97(6):328-338.
|
||
doi: 10.5414/CN110476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35142283" target="_blank">35142283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34532765">Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shrot S,
|
||
Lawson P,
|
||
Shlomovitz O,
|
||
Hoffmann C,
|
||
Shrot A,
|
||
Ben-Zeev B,
|
||
Tzadok M</span><br />
|
||
<span class="medgenPMjournal">Neuroradiology</span>
|
||
2022 Mar;64(3):611-620.
|
||
Epub 2021 Sep 16
|
||
doi: 10.1007/s00234-021-02789-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34532765" target="_blank">34532765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33748956">Epilepsy in adult patients with tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vignoli A,
|
||
La Briola F,
|
||
Turner K,
|
||
Peron A,
|
||
Vannicola C,
|
||
Chiesa V,
|
||
Zambrelli E,
|
||
Bruschi F,
|
||
Viganò I,
|
||
Canevini MP</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2021 Jul;144(1):29-40.
|
||
Epub 2021 Mar 22
|
||
doi: 10.1111/ane.13416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33748956" target="_blank">33748956</a><a href="/pmc/articles/PMC8251624" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11952080">Gelastic seizure with tectal tumor, lobar holoprosencephaly, and subependymal nodules: clinical report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akman CI,
|
||
Schubert R,
|
||
Duran M,
|
||
Loh J</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2002 Feb;17(2):152-4.
|
||
doi: 10.1177/088307380201700215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11952080" target="_blank">11952080</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subependymal%20nodules%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 (34)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38637341">Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh R,
|
||
Peer S,
|
||
Wander A</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Aug;45(8):4091-4093.
|
||
Epub 2024 Apr 19
|
||
doi: 10.1007/s10072-024-07523-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38637341" target="_blank">38637341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37946245">A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mammadova D,
|
||
Vecko J,
|
||
Hofmann M,
|
||
Schüssler SC,
|
||
Deiters L,
|
||
Canda A,
|
||
Wieland AK,
|
||
Gollwitzer S,
|
||
Hamer H,
|
||
Trollmann R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Nov 9;18(1):349.
|
||
doi: 10.1186/s13023-023-02959-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37946245" target="_blank">37946245</a><a href="/pmc/articles/PMC10637019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35918040">Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng SY,
|
||
Luk HM,
|
||
Hau EW,
|
||
Cheng SS,
|
||
Yu KP,
|
||
Ho S,
|
||
Mok MT,
|
||
Lo IF</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Oct;65(10):104573.
|
||
Epub 2022 Jul 31
|
||
doi: 10.1016/j.ejmg.2022.104573.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35918040" target="_blank">35918040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23485365">A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feliciano DM,
|
||
Lin TV,
|
||
Hartman NW,
|
||
Bartley CM,
|
||
Kubera C,
|
||
Hsieh L,
|
||
Lafourcade C,
|
||
O'Keefe RA,
|
||
Bordey A</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2013 Nov;31(7):667-78.
|
||
Epub 2013 Feb 26
|
||
doi: 10.1016/j.ijdevneu.2013.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23485365" target="_blank">23485365</a><a href="/pmc/articles/PMC3830611" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14684235">Tuberous sclerosis complex: genetics to pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Narayanan V</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2003 Nov;29(5):404-9.
|
||
doi: 10.1016/j.pediatrneurol.2003.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14684235" target="_blank">14684235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Subependymal%20nodules%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 (45)</a></div></div>
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