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<meta name="keywords" content="C4023154, impaired ristocetin-induced platelet aggregation, pathologic function, 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="Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=868749
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ConceptID=C4023154
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Impaired ristocetin-induced platelet aggregation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868749</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:">C4023154</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</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:0011871">HP:0011871</a></td></tr>
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<div class="portlet_content ln">Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. [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 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="TLline">Impaired ristocetin-induced platelet aggregation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/868623" ref="tree=MeSH" title="MedGen record for Abnormality of von Willebrand factor">Abnormality of von Willebrand factor</a></span><ul><li><span class="matched_ds">Impaired ristocetin-induced platelet aggregation</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_2212"><div><strong>Bernard Soulier syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2212</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.">C0005129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by Cox et al., 2011 and Nurden and Nurden, 2011). Platelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; 273800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; pseudo-von Willebrand disease (BDPLT3; 177820), caused by mutation in the GP1BA gene (606672); gray platelet syndrome (BDPLT4; 139090), caused by mutation in the NBEAL2 gene (614169); Quebec platelet disorder (BDPLT5; 601709), caused by tandem duplication of the PLAU gene (191840); May-Hegglin anomaly (BDPLT6; 155100), caused by mutation in the MYH9 gene (160775); Scott syndrome (BDPLT7; 262890), caused by mutation in the TMEM16F gene (608663); BDPLT8 (609821), caused by mutation in the P2RY12 gene (600515); BDPLT9 (614200), associated with deficiency of the glycoprotein Ia/IIa receptor (see ITGA2; 192974); glycoprotein IV deficiency (BDPLT10; 608404), caused by mutation in the CD36 gene (173510); BDPLT11 (614201), caused by mutation in the GP6 gene (605546); BDPLT12 (605735), associated with a deficiency of platelet COX1 (176805); susceptibility to BDPLT13 (614009), caused by mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene (614958); BDPLT21 (617443), caused by mutation in the FLI1 gene (193067); BDPLT22 (618462), caused by mutation in the EPHB2 gene (600997); BDPLT23 (619267), caused by mutation in the ITGB3 gene (173470); BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470); and BDPLT25 (620486), caused by mutation in the TPM4 gene (600317). See reviews by Rao (2003), Cox et al. (2011), and Nurden and Nurden (2011). For a discussion of the genetic heterogeneity of hereditary thrombocytopenia, see THC1 (313900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_52736"><div><strong>Glanzmann thrombasthenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52736</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.">C0040015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52736">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_478706"><div><strong>Bernard-Soulier syndrome, type A2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478706</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.">C3277076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant Bernard-Soulier syndrome type A2 (BSSA2) is characterized by chronic macrothrombocytopenia with mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. When present, clinical findings include excessive ecchymoses, frequent epistaxis, gingival bleeding, prolonged menstrual periods, or prolonged bleeding after tooth extraction (Savoia et al., 2001). Genetic Heterogeneity of Bernard-Soulier Syndrome Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481750"><div><strong>Platelet-type bleeding disorder 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481750</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.">C3280120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481750">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1673822"><div><strong>Bleeding disorder, platelet-type, 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673822</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.">C5193111</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1673822">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1768257"><div><strong>Thrombocytopenia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1768257</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.">C5436874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1768257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782592"><div><strong>Glanzmann thrombasthenia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782592</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.">C5543273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785711"><div><strong>Bleeding disorder, platelet-type, 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785711</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.">C5543280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785711">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bernard Soulier syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_478706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bernard-Soulier syndrome, type A2, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1673822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bleeding disorder, platelet-type, 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bleeding disorder, platelet-type, 24</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_52736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glanzmann thrombasthenia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glanzmann thrombasthenia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1768257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 7</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/21173099">Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savoia A,
|
||
Pastore A,
|
||
De Rocco D,
|
||
Civaschi E,
|
||
Di Stazio M,
|
||
Bottega R,
|
||
Melazzini F,
|
||
Bozzi V,
|
||
Pecci A,
|
||
Magrin S,
|
||
Balduini CL,
|
||
Noris P</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2011 Mar;96(3):417-23.
|
||
Epub 2010 Dec 20
|
||
doi: 10.3324/haematol.2010.032631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21173099" target="_blank">21173099</a><a href="/pmc/articles/PMC3046273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(impaired%20ristocetin-induced%20platelet%20aggregation)%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 (1)</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/32511880">Platelet function and bleeding in chronic lymphocytic leukemia and mantle cell lymphoma patients on ibrutinib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dmitrieva EA,
|
||
Nikitin EA,
|
||
Ignatova AA,
|
||
Vorobyev VI,
|
||
Poletaev AV,
|
||
Seregina EA,
|
||
Voronin KA,
|
||
Polokhov DM,
|
||
Maschan AA,
|
||
Novichkova GA,
|
||
Panteleev MA,
|
||
Ptushkin VV</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2020 Oct;18(10):2672-2684.
|
||
doi: 10.1111/jth.14943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32511880" target="_blank">32511880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32135567">Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-Llobet A,
|
||
Isola I,
|
||
Gassiot S,
|
||
Català A,
|
||
Díaz-Ricart M,
|
||
Martínez-Monseny AF,
|
||
Serrano M,
|
||
Berrueco R</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2020 Mar;120(3):457-465.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1055/s-0040-1701239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32135567" target="_blank">32135567</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31731068">The effect of red blood cell transfusion on platelet function in critically ill patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Hezel ME,
|
||
van Manen L,
|
||
Boshuizen M,
|
||
Straat M,
|
||
De Cuyper IM,
|
||
Beuger B,
|
||
Nieuwland R,
|
||
Tanck MWT,
|
||
de Korte D,
|
||
Zwaginga JJ,
|
||
van Bruggen R,
|
||
Juffermans NP</span><br />
|
||
<span class="medgenPMjournal">Thromb Res</span>
|
||
2019 Dec;184:115-121.
|
||
Epub 2019 Nov 1
|
||
doi: 10.1016/j.thromres.2019.10.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31731068" target="_blank">31731068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28692107">Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt DE,
|
||
Bruzelius M,
|
||
Majeed A,
|
||
Odeberg J,
|
||
Holmström M,
|
||
Ågren A</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2017 Jul 26;117(8):1528-1533.
|
||
Epub 2017 Jul 6
|
||
doi: 10.1160/TH17-02-0129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28692107" target="_blank">28692107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1078779">Abnormalities of factor VIII and platelet aggregation--use of ristocetin in diagnosing the von Willebrand syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss HJ</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1975 Mar;45(3):403-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1078779" target="_blank">1078779</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impaired%20ristocetin-induced%20platelet%20aggregation%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32135567">Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-Llobet A,
|
||
Isola I,
|
||
Gassiot S,
|
||
Català A,
|
||
Díaz-Ricart M,
|
||
Martínez-Monseny AF,
|
||
Serrano M,
|
||
Berrueco R</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2020 Mar;120(3):457-465.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1055/s-0040-1701239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32135567" target="_blank">32135567</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29427305">Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nummi V,
|
||
Lassila R,
|
||
Joutsi-Korhonen L,
|
||
Armstrong E,
|
||
Szanto T</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2018 Jun;40(3):304-311.
|
||
Epub 2018 Feb 10
|
||
doi: 10.1111/ijlh.12785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29427305" target="_blank">29427305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28804849">Ristocetin-Induced Platelet Aggregation (RIPA) and RIPA Mixing Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frontroth JP,
|
||
Favaloro EJ</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2017;1646:473-494.
|
||
doi: 10.1007/978-1-4939-7196-1_35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28804849" target="_blank">28804849</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28692107">Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt DE,
|
||
Bruzelius M,
|
||
Majeed A,
|
||
Odeberg J,
|
||
Holmström M,
|
||
Ågren A</span><br />
|
||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2017 Jul 26;117(8):1528-1533.
|
||
Epub 2017 Jul 6
|
||
doi: 10.1160/TH17-02-0129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28692107" target="_blank">28692107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1078779">Abnormalities of factor VIII and platelet aggregation--use of ristocetin in diagnosing the von Willebrand syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss HJ</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1975 Mar;45(3):403-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1078779" target="_blank">1078779</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impaired%20ristocetin-induced%20platelet%20aggregation%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 (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27909342">Ristocetin-induced platelet aggregation for monitoring of bleeding tendency in CLL treated with ibrutinib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kazianka L,
|
||
Drucker C,
|
||
Skrabs C,
|
||
Thomas W,
|
||
Melchardt T,
|
||
Struve S,
|
||
Bergmann M,
|
||
Staber PB,
|
||
Porpaczy E,
|
||
Einberger C,
|
||
Heinz M,
|
||
Hauswirth A,
|
||
Raderer M,
|
||
Pabinger I,
|
||
Thalhammer R,
|
||
Egle A,
|
||
Wendtner CM,
|
||
Follows G,
|
||
Hoermann G,
|
||
Quehenberger P,
|
||
Jilma B,
|
||
Jaeger U</span><br />
|
||
<span class="medgenPMjournal">Leukemia</span>
|
||
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Epub 2016 Nov 2
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<div class="portlet_content ln"><span class="medgenPMauthor">Michiels JJ,
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<div class="nl"><a target="_blank" href="/pubmed/11857313">Impaired platelet aggregation in melanoma patients treated with interferon-alpha-2b adjuvant therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gutman H,
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Ignatova AA,
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Vorobyev VI,
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Poletaev AV,
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doi: 10.1111/jth.14943.
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<span class="bold">PMID: </span><a href="/pubmed/32511880" target="_blank">32511880</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28692107">Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease.</a></div>
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Bruzelius M,
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<span class="bold">PMID: </span><a href="/pubmed/28692107" target="_blank">28692107</a></div>
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Dworschak M,
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Birkenberg B,
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Duris M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impaired%20ristocetin-induced%20platelet%20aggregation%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/32511880">Platelet function and bleeding in chronic lymphocytic leukemia and mantle cell lymphoma patients on ibrutinib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dmitrieva EA,
|
||
Nikitin EA,
|
||
Ignatova AA,
|
||
Vorobyev VI,
|
||
Poletaev AV,
|
||
Seregina EA,
|
||
Voronin KA,
|
||
Polokhov DM,
|
||
Maschan AA,
|
||
Novichkova GA,
|
||
Panteleev MA,
|
||
Ptushkin VV</span><br />
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<span class="medgenPMjournal">J Thromb Haemost</span>
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2020 Oct;18(10):2672-2684.
|
||
doi: 10.1111/jth.14943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32511880" target="_blank">32511880</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32135567">Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-Llobet A,
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Isola I,
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Gassiot S,
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Català A,
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Díaz-Ricart M,
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Martínez-Monseny AF,
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Serrano M,
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Berrueco R</span><br />
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2020 Mar;120(3):457-465.
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Epub 2020 Mar 5
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doi: 10.1055/s-0040-1701239.
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<span class="bold">PMID: </span><a href="/pubmed/32135567" target="_blank">32135567</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/29427305">Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Nummi V,
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Lassila R,
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Joutsi-Korhonen L,
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<span class="bold">PMID: </span><a href="/pubmed/29427305" target="_blank">29427305</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28692107">Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt DE,
|
||
Bruzelius M,
|
||
Majeed A,
|
||
Odeberg J,
|
||
Holmström M,
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||
Ågren A</span><br />
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||
<span class="medgenPMjournal">Thromb Haemost</span>
|
||
2017 Jul 26;117(8):1528-1533.
|
||
Epub 2017 Jul 6
|
||
doi: 10.1160/TH17-02-0129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28692107" target="_blank">28692107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27909342">Ristocetin-induced platelet aggregation for monitoring of bleeding tendency in CLL treated with ibrutinib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kazianka L,
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Drucker C,
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Skrabs C,
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Thomas W,
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Melchardt T,
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Struve S,
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Bergmann M,
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Staber PB,
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Porpaczy E,
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Einberger C,
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Heinz M,
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Hauswirth A,
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Raderer M,
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Pabinger I,
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Thalhammer R,
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Egle A,
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Wendtner CM,
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Follows G,
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Hoermann G,
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Quehenberger P,
|
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Jilma B,
|
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Jaeger U</span><br />
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<span class="medgenPMjournal">Leukemia</span>
|
||
2017 May;31(5):1117-1122.
|
||
Epub 2016 Nov 2
|
||
doi: 10.1038/leu.2016.316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27909342" target="_blank">27909342</a><a href="/pmc/articles/PMC5338745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Impaired%20ristocetin-induced%20platelet%20aggregation%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 (14)</a></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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