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<meta name="keywords" content="C4014918, bnah2, breast and/or nipples, aplasia or hypoplasia of, 2, breasts and/or nipples, aplasia or hypoplasia of, 2, breasts and/or nipples, aplasia or hypoplasia of, type 2, congenital abnormality, isolated congenital breast hypoplasia/aplasia caused by mutation in ptprf, ptprf, ptprf isolated congenital breast hypoplasia/aplasia, 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="Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) or Poland syndrome (173800) (summary by Papadimitriou et al., 2009). For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see 113700." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=863355
|
||
ConceptID=C4014918
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Breasts and/or nipples, aplasia or hypoplasia of, 2<span class="h1sub">(BNAH2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863355</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:">C4014918</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>BNAH2</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="PTPRF - ID: 5792 - NCBI Gene" href="/gene/5792" class="medgenPMinfo">PTPRF</a> (1p34.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014450" target="_blank">MONDO:0014450</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616001" target="_blank">616001</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>
|
||
<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">Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) or Poland syndrome (173800) (summary by Papadimitriou et al., 2009). For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see 113700. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1694020"><div><strong>Male urethral meatus stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1694020</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.">C4760707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal narrowing of the urethral opening (meatus) of the penis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1694020">Feature record</a> | <a href="/medgen?term=%22Male%20urethral%20meatus%20stenosis%22%5BClinical%20Features%5D%20OR%201694020%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_354661"><div><strong>Bilateral single transverse palmar creases</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354661</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.">C1862095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354661">Feature record</a> | <a href="/medgen?term=%22Bilateral%20single%20transverse%20palmar%20creases%22%5BClinical%20Features%5D%20OR%20354661%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334587"><div><strong>Small earlobe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334587</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.">C1842680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced volume of the earlobe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334587">Feature record</a> | <a href="/medgen?term=%22Small%20earlobe%22%5BClinical%20Features%5D%20OR%20334587%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98424"><div><strong>Broad nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98424</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.">C0426429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in width of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98424">Feature record</a> | <a href="/medgen?term=%22Broad%20nasal%20tip%22%5BClinical%20Features%5D%20OR%2098424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_222980"><div><strong>Smooth philtrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>222980</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.">C1142533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/222980">Feature record</a> | <a href="/medgen?term=%22Smooth%20philtrum%22%5BClinical%20Features%5D%20OR%20222980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326648"><div><strong>Anteverted nares</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326648</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.">C1840077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326648">Feature record</a> | <a href="/medgen?term=%22Anteverted%20nares%22%5BClinical%20Features%5D%20OR%20326648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337093"><div><strong>Widely spaced teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337093</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.">C1844813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased spaces (diastemata) between most of the teeth in the same dental arch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337093">Feature record</a> | <a href="/medgen?term=%22Widely%20spaced%20teeth%22%5BClinical%20Features%5D%20OR%20337093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358357"><div><strong>Highly arched eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358357</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.">C1868571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358357">Feature record</a> | <a href="/medgen?term=%22Highly%20arched%20eyebrow%22%5BClinical%20Features%5D%20OR%20358357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_64223"><div><strong>Absent nipple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64223</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.">C0175755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital failure to develop, and absence of, the nipple.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/64223">Feature record</a> | <a href="/medgen?term=%22Absent%20nipple%22%5BClinical%20Features%5D%20OR%2064223%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98156"><div><strong>Hypoplastic nipples</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98156</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.">C0432355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the nipple.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98156">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20nipples%22%5BClinical%20Features%5D%20OR%2098156%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_477663"><div><strong>Hypoplastic areola</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477663</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.">C3276032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477663">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20areola%22%5BClinical%20Features%5D%20OR%20477663%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anteverted nares</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Highly arched eyebrow</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_222980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smooth philtrum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Widely spaced teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_354661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral single transverse palmar creases</a></span></li></ul></li><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_64223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent nipple</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic areola</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98156" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic nipples</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1694020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Male urethral meatus stenosis</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small earlobe</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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98489" target="_blank" href="/omim/113700">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/98489" ref="tree=GTR&ncbi_uid=98489&link_uid=98489" title="View MedGen record for 'Isolated congenital breast hypoplasia/aplasia'">Isolated congenital breast hypoplasia/aplasia</a></span><ul><li class="TLclosed"><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"><a href="/medgen/429802" ref="tree=GTR&ncbi_uid=429802&link_uid=429802" title="View MedGen record for 'Amastia'">Amastia</a></span></li><li class="TLclosed"><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"><a href="/medgen/991554" ref="tree=GTR&ncbi_uid=991554&link_uid=991554" title="View MedGen record for 'Breasts and/or nipples, aplasia or hypoplasia of, 1'">Breasts and/or nipples, aplasia or hypoplasia of, 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014918[DISCUI]&test_type=Clinical" ref="ncbi_uid=863355">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863355" target="_blank" href="/omim/179590">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=863355" ref="ncbi_uid=863355">V</a></span></span><span class="TLline">Breasts and/or nipples, aplasia or hypoplasia of, 2</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/1842716" ref="tree=MeSH" title="MedGen record for Deficient breast volume or number">Deficient breast volume or number</a></span><ul><li><span class="TLline"><a href="/medgen/98489" ref="tree=MeSH" title="MedGen record for Isolated congenital breast hypoplasia/aplasia">Isolated congenital breast hypoplasia/aplasia</a></span><ul><li><span class="matched_ds">Breasts and/or nipples, aplasia or hypoplasia of, 2</span></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/37486661">Treatment and Management of Mental Health Conditions During Pregnancy and Postpartum: ACOG Clinical Practice Guideline No. 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2023 Jun 1;141(6):1262-1288.
|
||
doi: 10.1097/AOG.0000000000005202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37486661" target="_blank">37486661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34399110">Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Northrup H,
|
||
Aronow ME,
|
||
Bebin EM,
|
||
Bissler J,
|
||
Darling TN,
|
||
de Vries PJ,
|
||
Frost MD,
|
||
Fuchs Z,
|
||
Gosnell ES,
|
||
Gupta N,
|
||
Jansen AC,
|
||
Jóźwiak S,
|
||
Kingswood JC,
|
||
Knilans TK,
|
||
McCormack FX,
|
||
Pounders A,
|
||
Roberds SL,
|
||
Rodriguez-Buritica DF,
|
||
Roth J,
|
||
Sampson JR,
|
||
Sparagana S,
|
||
Thiele EA,
|
||
Weiner HL,
|
||
Wheless JW,
|
||
Towbin AJ,
|
||
Krueger DA;
|
||
International Tuberous Sclerosis Complex Consensus Group</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Oct;123:50-66.
|
||
Epub 2021 Jul 24
|
||
doi: 10.1016/j.pediatrneurol.2021.07.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34399110" target="_blank">34399110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32283998">Clinical Consensus Statement: Ankyloglossia in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Messner AH,
|
||
Walsh J,
|
||
Rosenfeld RM,
|
||
Schwartz SR,
|
||
Ishman SL,
|
||
Baldassari C,
|
||
Brietzke SE,
|
||
Darrow DH,
|
||
Goldstein N,
|
||
Levi J,
|
||
Meyer AK,
|
||
Parikh S,
|
||
Simons JP,
|
||
Wohl DL,
|
||
Lambie E,
|
||
Satterfield L</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2020 May;162(5):597-611.
|
||
Epub 2020 Apr 14
|
||
doi: 10.1177/0194599820915457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32283998" target="_blank">32283998</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(breasts%20and%2For%20nipples%2C%20aplasia%20or%20hypoplasia%20of%2C%202)%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 (35099)</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/36719288">Supplemental Breast Cancer Screening in Women with Dense Breasts and Negative Mammography: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hussein H,
|
||
Abbas E,
|
||
Keshavarzi S,
|
||
Fazelzad R,
|
||
Bukhanov K,
|
||
Kulkarni S,
|
||
Au F,
|
||
Ghai S,
|
||
Alabousi A,
|
||
Freitas V</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2023 Mar;306(3):e221785.
|
||
Epub 2023 Jan 31
|
||
doi: 10.1148/radiol.221785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36719288" target="_blank">36719288</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35343816">Re-thinking lactation-related nipple pain and damage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douglas P</span><br />
|
||
<span class="medgenPMjournal">Womens Health (Lond)</span>
|
||
2022 Jan-Dec;18:17455057221087865.
|
||
doi: 10.1177/17455057221087865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35343816" target="_blank">35343816</a><a href="/pmc/articles/PMC8966064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31150040">Discussions of Dense Breasts, Breast Cancer Risk, and Screening Choices in 2019.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kerlikowske K,
|
||
Miglioretti DL,
|
||
Vachon CM</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2019 Jul 2;322(1):69-70.
|
||
doi: 10.1001/jama.2019.6247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31150040" target="_blank">31150040</a><a href="/pmc/articles/PMC7153958" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30995101">Asymmetric Ductal Ectasia: An Often Overlooked Sign of Malignancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SJ,
|
||
Sobel LD,
|
||
Shamis M,
|
||
Mahoney MC</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2019 Aug;213(2):473-481.
|
||
Epub 2019 Apr 17
|
||
doi: 10.2214/AJR.18.20651.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30995101" target="_blank">30995101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22892093">The Goldilocks mastectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson H,
|
||
Ma G</span><br />
|
||
<span class="medgenPMjournal">Int J Surg</span>
|
||
2012;10(9):522-6.
|
||
Epub 2012 Aug 11
|
||
doi: 10.1016/j.ijsu.2012.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22892093" target="_blank">22892093</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breasts%20and%2For%20nipples%2C%20aplasia%20or%20hypoplasia%20of%2C%202%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 (275656)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37496240">Premature Thelarche: An Updated Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung AKC,
|
||
Lam JM,
|
||
Hon KL</span><br />
|
||
<span class="medgenPMjournal">Curr Pediatr Rev</span>
|
||
2024;20(4):500-509.
|
||
doi: 10.2174/1573396320666230726110658.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37496240" target="_blank">37496240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36108478">Contrast-enhanced mammography in breast cancer screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coffey K,
|
||
Jochelson MS</span><br />
|
||
<span class="medgenPMjournal">Eur J Radiol</span>
|
||
2022 Nov;156:110513.
|
||
Epub 2022 Sep 10
|
||
doi: 10.1016/j.ejrad.2022.110513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36108478" target="_blank">36108478</a><a href="/pmc/articles/PMC10680079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35343816">Re-thinking lactation-related nipple pain and damage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douglas P</span><br />
|
||
<span class="medgenPMjournal">Womens Health (Lond)</span>
|
||
2022 Jan-Dec;18:17455057221087865.
|
||
doi: 10.1177/17455057221087865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35343816" target="_blank">35343816</a><a href="/pmc/articles/PMC8966064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35017277">Fibrocystic Breast Changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faguy K</span><br />
|
||
<span class="medgenPMjournal">Radiol Technol</span>
|
||
2022 Jan;93(3):303M-315M.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35017277" target="_blank">35017277</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32027563">Breast Biomechanics: What Do We Really Know?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGhee DE,
|
||
Steele JR</span><br />
|
||
<span class="medgenPMjournal">Physiology (Bethesda)</span>
|
||
2020 Mar 1;35(2):144-156.
|
||
doi: 10.1152/physiol.00024.2019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32027563" target="_blank">32027563</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breasts%20and%2For%20nipples%2C%20aplasia%20or%20hypoplasia%20of%2C%202%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 (220774)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36719288">Supplemental Breast Cancer Screening in Women with Dense Breasts and Negative Mammography: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hussein H,
|
||
Abbas E,
|
||
Keshavarzi S,
|
||
Fazelzad R,
|
||
Bukhanov K,
|
||
Kulkarni S,
|
||
Au F,
|
||
Ghai S,
|
||
Alabousi A,
|
||
Freitas V</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2023 Mar;306(3):e221785.
|
||
Epub 2023 Jan 31
|
||
doi: 10.1148/radiol.221785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36719288" target="_blank">36719288</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32560062">Nipple-Areola Complex Reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sisti A</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2020 Jun 16;56(6)
|
||
doi: 10.3390/medicina56060296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32560062" target="_blank">32560062</a><a href="/pmc/articles/PMC7353867" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31909454">Juvenile breast hypertrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bianchi de Aguiar B,
|
||
Santos Silva R,
|
||
Costa C,
|
||
Castro-Correia C,
|
||
Fontoura M</span><br />
|
||
<span class="medgenPMjournal">Endokrynol Pol</span>
|
||
2020;71(2):202-203.
|
||
Epub 2020 Jan 7
|
||
doi: 10.5603/EP.a2019.0063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31909454" target="_blank">31909454</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29622125">Role of MR Imaging for the Locoregional Staging of Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ray KM,
|
||
Hayward JH,
|
||
Joe BN</span><br />
|
||
<span class="medgenPMjournal">Magn Reson Imaging Clin N Am</span>
|
||
2018 May;26(2):191-205.
|
||
Epub 2018 Feb 21
|
||
doi: 10.1016/j.mric.2017.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29622125" target="_blank">29622125</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27741212">Breast Cancer Screening, Mammography, and Other Modalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiorica JV</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
2016 Dec;59(4):688-709.
|
||
doi: 10.1097/GRF.0000000000000246.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27741212" target="_blank">27741212</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breasts%20and%2For%20nipples%2C%20aplasia%20or%20hypoplasia%20of%2C%202%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 (173714)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31774954">Supplemental MRI Screening for Women with Extremely Dense Breast Tissue.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker MF,
|
||
de Lange SV,
|
||
Pijnappel RM,
|
||
Mann RM,
|
||
Peeters PHM,
|
||
Monninkhof EM,
|
||
Emaus MJ,
|
||
Loo CE,
|
||
Bisschops RHC,
|
||
Lobbes MBI,
|
||
de Jong MDF,
|
||
Duvivier KM,
|
||
Veltman J,
|
||
Karssemeijer N,
|
||
de Koning HJ,
|
||
van Diest PJ,
|
||
Mali WPTM,
|
||
van den Bosch MAAJ,
|
||
Veldhuis WB,
|
||
van Gils CH;
|
||
DENSE Trial Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Nov 28;381(22):2091-2102.
|
||
doi: 10.1056/NEJMoa1903986.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31774954" target="_blank">31774954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30452954">Skin diseases of the breast and nipple: Benign and malignant tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waldman RA,
|
||
Finch J,
|
||
Grant-Kels JM,
|
||
Stevenson C,
|
||
Whitaker-Worth D</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2019 Jun;80(6):1467-1481.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1016/j.jaad.2018.08.066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30452954" target="_blank">30452954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29365038">Mastopexy and Mastopexy-Augmentation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qureshi AA,
|
||
Myckatyn TM,
|
||
Tenenbaum MM</span><br />
|
||
<span class="medgenPMjournal">Aesthet Surg J</span>
|
||
2018 Mar 14;38(4):374-384.
|
||
doi: 10.1093/asj/sjx181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29365038" target="_blank">29365038</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15876600">Yunis-Varon syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatia S,
|
||
Holla RG</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2005 Apr;42(4):373-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15876600" target="_blank">15876600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6829381">Breast reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vecchione TR</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1983 Feb;27(2):265-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6829381" target="_blank">6829381</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breasts%20and%2For%20nipples%2C%20aplasia%20or%20hypoplasia%20of%2C%202%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 (173773)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39436292">Time-Dependent Diffusion MRI Helps Predict Molecular Subtypes and Treatment Response to Neoadjuvant Chemotherapy in Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang X,
|
||
Ba R,
|
||
Huang Y,
|
||
Cao Y,
|
||
Chen H,
|
||
Xu H,
|
||
Shen H,
|
||
Liu D,
|
||
Huang H,
|
||
Yin T,
|
||
Wu D,
|
||
Zhang J</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2024 Oct;313(1):e240288.
|
||
doi: 10.1148/radiol.240288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39436292" target="_blank">39436292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38619787">Inter- and intra-observer variability of qualitative visual breast-composition assessment in mammography among Japanese physicians: a first multi-institutional observer performance study in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koyama Y,
|
||
Nakashima K,
|
||
Orihara S,
|
||
Tsunoda H,
|
||
Kimura F,
|
||
Uenaka N,
|
||
Ban K,
|
||
Michishita Y,
|
||
Kanemaki Y,
|
||
Kurihara A,
|
||
Tawaraya K,
|
||
Taguri M,
|
||
Ishikawa T,
|
||
Uematsu T</span><br />
|
||
<span class="medgenPMjournal">Breast Cancer</span>
|
||
2024 Jul;31(4):671-683.
|
||
Epub 2024 Apr 15
|
||
doi: 10.1007/s12282-024-01580-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38619787" target="_blank">38619787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32299542">Immediate Nipple Reconstruction Following Breast Reduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li ZF,
|
||
Luan J,
|
||
Wang CL,
|
||
Li SS</span><br />
|
||
<span class="medgenPMjournal">Chin Med Sci J</span>
|
||
2020 Mar 31;35(1):92-94.
|
||
doi: 10.24920/003581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32299542" target="_blank">32299542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31769792">Low-Grade Ductal Carcinoma In Situ.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alghamdi SA,
|
||
Krishnamurthy K,
|
||
Garces Narvaez SA,
|
||
Algashaamy KJ,
|
||
Aoun J,
|
||
Reis IM,
|
||
Recine MA,
|
||
Jorda M,
|
||
Poppiti RJ,
|
||
Gomez-Fernandez CR</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Pathol</span>
|
||
2020 Feb 8;153(3):360-367.
|
||
doi: 10.1093/ajcp/aqz179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31769792" target="_blank">31769792</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27115381">Breast Cancer Screening Using Tomosynthesis and Digital Mammography in Dense and Nondense Breasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rafferty EA,
|
||
Durand MA,
|
||
Conant EF,
|
||
Copit DS,
|
||
Friedewald SM,
|
||
Plecha DM,
|
||
Miller DP</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2016 Apr 26;315(16):1784-6.
|
||
doi: 10.1001/jama.2016.1708.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27115381" target="_blank">27115381</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breasts%20and%2For%20nipples%2C%20aplasia%20or%20hypoplasia%20of%2C%202%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 (187911)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37943547">Global Stage Distribution of Breast Cancer at Diagnosis: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benitez Fuentes JD,
|
||
Morgan E,
|
||
de Luna Aguilar A,
|
||
Mafra A,
|
||
Shah R,
|
||
Giusti F,
|
||
Vignat J,
|
||
Znaor A,
|
||
Musetti C,
|
||
Yip CH,
|
||
Van Eycken L,
|
||
Jedy-Agba E,
|
||
Piñeros M,
|
||
Soerjomataram I</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2024 Jan 1;10(1):71-78.
|
||
doi: 10.1001/jamaoncol.2023.4837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37943547" target="_blank">37943547</a><a href="/pmc/articles/PMC10636649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36183671">Mammographic breast density and the risk of breast cancer: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bodewes FTH,
|
||
van Asselt AA,
|
||
Dorrius MD,
|
||
Greuter MJW,
|
||
de Bock GH</span><br />
|
||
<span class="medgenPMjournal">Breast</span>
|
||
2022 Dec;66:62-68.
|
||
Epub 2022 Sep 26
|
||
doi: 10.1016/j.breast.2022.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36183671" target="_blank">36183671</a><a href="/pmc/articles/PMC9530665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35636342">Global guidelines for breast cancer screening: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ren W,
|
||
Chen M,
|
||
Qiao Y,
|
||
Zhao F</span><br />
|
||
<span class="medgenPMjournal">Breast</span>
|
||
2022 Aug;64:85-99.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1016/j.breast.2022.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35636342" target="_blank">35636342</a><a href="/pmc/articles/PMC9142711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35414723">Malignant phyllodes tumor of the breast: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lissidini G,
|
||
Mulè A,
|
||
Santoro A,
|
||
Papa G,
|
||
Nicosia L,
|
||
Cassano E,
|
||
Ashoor AA,
|
||
Veronesi P,
|
||
Pantanowitz L,
|
||
Hornick JL,
|
||
Rossi ED</span><br />
|
||
<span class="medgenPMjournal">Pathologica</span>
|
||
2022 Apr;114(2):111-120.
|
||
Epub 2022 Apr 13
|
||
doi: 10.32074/1591-951X-754.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35414723" target="_blank">35414723</a><a href="/pmc/articles/PMC9248247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35241506">Soy Isoflavones and Breast Cancer Risk: A Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boutas I,
|
||
Kontogeorgi A,
|
||
Dimitrakakis C,
|
||
Kalantaridou SN</span><br />
|
||
<span class="medgenPMjournal">In Vivo</span>
|
||
2022 Mar-Apr;36(2):556-562.
|
||
doi: 10.21873/invivo.12737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35241506" target="_blank">35241506</a><a href="/pmc/articles/PMC8931889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breasts%20and%2For%20nipples%2C%20aplasia%20or%20hypoplasia%20of%2C%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9690)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4014918%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014918%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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