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<!--
|
||
UID=1842714
|
||
ConceptID=C5679914
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Alexander disease type II</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842714</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.">C5679914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AxD (Alexander disease) type II; AxD type II</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Alexander disease type II (1332388003); AxD (Alexander disease) type II (1332388003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018210" target="_blank">MONDO:0018210</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363722">ORPHA363722</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">
|
||
<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">An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</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="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Alexander disease type II</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span><ul><li><span class="matched_ds">Alexander disease type II</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35980381">Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holtz AM,
|
||
VanCoillie R,
|
||
Vansickle EA,
|
||
Carere DA,
|
||
Withrow K,
|
||
Torti E,
|
||
Juusola J,
|
||
Millan F,
|
||
Person R,
|
||
Guillen Sacoto MJ,
|
||
Si Y,
|
||
Wentzensen IM,
|
||
Pugh J,
|
||
Vasileiou G,
|
||
Rieger M,
|
||
Reis A,
|
||
Argilli E,
|
||
Sherr EH,
|
||
Aldinger KA,
|
||
Dobyns WB,
|
||
Brunet T,
|
||
Hoefele J,
|
||
Wagner M,
|
||
Haber B,
|
||
Kotzaeridou U,
|
||
Keren B,
|
||
Heron D,
|
||
Mignot C,
|
||
Heide S,
|
||
Courtin T,
|
||
Buratti J,
|
||
Murugasen S,
|
||
Donald KA,
|
||
O'Heir E,
|
||
Moody S,
|
||
Kim KH,
|
||
Burton BK,
|
||
Yoon G,
|
||
Campo MD,
|
||
Masser-Frye D,
|
||
Kozenko M,
|
||
Parkinson C,
|
||
Sell SL,
|
||
Gordon PL,
|
||
Prokop JW,
|
||
Karaa A,
|
||
Bupp C,
|
||
Raby BA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Oct;24(10):2065-2078.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1016/j.gim.2022.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35980381" target="_blank">35980381</a><a href="/pmc/articles/PMC10765599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35758521">ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mearin ML,
|
||
Agardh D,
|
||
Antunes H,
|
||
Al-Toma A,
|
||
Auricchio R,
|
||
Castillejo G,
|
||
Catassi C,
|
||
Ciacci C,
|
||
Discepolo V,
|
||
Dolinsek J,
|
||
Donat E,
|
||
Gillett P,
|
||
Guandalini S,
|
||
Husby Md DMSc S,
|
||
Koletzko Md S,
|
||
Koltai T,
|
||
Korponay-Szabó IR,
|
||
Kurppa K,
|
||
Lionetti E,
|
||
Mårild K,
|
||
Martinez Ojinaga E,
|
||
Meijer C,
|
||
Monachesi C,
|
||
Polanco I,
|
||
Popp A,
|
||
Roca M,
|
||
Rodriguez-Herrera A,
|
||
Shamir R,
|
||
Stordal K,
|
||
Troncone R,
|
||
Valitutti F,
|
||
Vreugdenhil A,
|
||
Wessels M,
|
||
Whiting P;
|
||
ESPGHAN Special Interest Group on Celiac Disease</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2022 Sep 1;75(3):369-386.
|
||
Epub 2022 Jun 27
|
||
doi: 10.1097/MPG.0000000000003540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35758521" target="_blank">35758521</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17239676">Curriculum in cardiology: integrated diagnosis and management of diastolic heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chinnaiyan KM,
|
||
Alexander D,
|
||
Maddens M,
|
||
McCullough PA</span><br />
|
||
<span class="medgenPMjournal">Am Heart J</span>
|
||
2007 Feb;153(2):189-200.
|
||
doi: 10.1016/j.ahj.2006.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17239676" target="_blank">17239676</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(alexander%20disease%20type%20ii)%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 (16)</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/35700142">Design of the COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint study (CONFIDENCE).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green JB,
|
||
Mottl AK,
|
||
Bakris G,
|
||
Heerspink HJL,
|
||
Mann JFE,
|
||
McGill JB,
|
||
Nangaku M,
|
||
Rossing P,
|
||
Scott C,
|
||
Gay A,
|
||
Agarwal R</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2023 Mar 31;38(4):894-903.
|
||
doi: 10.1093/ndt/gfac198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35700142" target="_blank">35700142</a><a href="/pmc/articles/PMC10064838" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35758521">ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mearin ML,
|
||
Agardh D,
|
||
Antunes H,
|
||
Al-Toma A,
|
||
Auricchio R,
|
||
Castillejo G,
|
||
Catassi C,
|
||
Ciacci C,
|
||
Discepolo V,
|
||
Dolinsek J,
|
||
Donat E,
|
||
Gillett P,
|
||
Guandalini S,
|
||
Husby Md DMSc S,
|
||
Koletzko Md S,
|
||
Koltai T,
|
||
Korponay-Szabó IR,
|
||
Kurppa K,
|
||
Lionetti E,
|
||
Mårild K,
|
||
Martinez Ojinaga E,
|
||
Meijer C,
|
||
Monachesi C,
|
||
Polanco I,
|
||
Popp A,
|
||
Roca M,
|
||
Rodriguez-Herrera A,
|
||
Shamir R,
|
||
Stordal K,
|
||
Troncone R,
|
||
Valitutti F,
|
||
Vreugdenhil A,
|
||
Wessels M,
|
||
Whiting P;
|
||
ESPGHAN Special Interest Group on Celiac Disease</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2022 Sep 1;75(3):369-386.
|
||
Epub 2022 Jun 27
|
||
doi: 10.1097/MPG.0000000000003540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35758521" target="_blank">35758521</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34349265">Genetic insights into biological mechanisms governing human ovarian ageing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruth KS,
|
||
Day FR,
|
||
Hussain J,
|
||
Martínez-Marchal A,
|
||
Aiken CE,
|
||
Azad A,
|
||
Thompson DJ,
|
||
Knoblochova L,
|
||
Abe H,
|
||
Tarry-Adkins JL,
|
||
Gonzalez JM,
|
||
Fontanillas P,
|
||
Claringbould A,
|
||
Bakker OB,
|
||
Sulem P,
|
||
Walters RG,
|
||
Terao C,
|
||
Turon S,
|
||
Horikoshi M,
|
||
Lin K,
|
||
Onland-Moret NC,
|
||
Sankar A,
|
||
Hertz EPT,
|
||
Timshel PN,
|
||
Shukla V,
|
||
Borup R,
|
||
Olsen KW,
|
||
Aguilera P,
|
||
Ferrer-Roda M,
|
||
Huang Y,
|
||
Stankovic S,
|
||
Timmers PRHJ,
|
||
Ahearn TU,
|
||
Alizadeh BZ,
|
||
Naderi E,
|
||
Andrulis IL,
|
||
Arnold AM,
|
||
Aronson KJ,
|
||
Augustinsson A,
|
||
Bandinelli S,
|
||
Barbieri CM,
|
||
Beaumont RN,
|
||
Becher H,
|
||
Beckmann MW,
|
||
Benonisdottir S,
|
||
Bergmann S,
|
||
Bochud M,
|
||
Boerwinkle E,
|
||
Bojesen SE,
|
||
Bolla MK,
|
||
Boomsma DI,
|
||
Bowker N,
|
||
Brody JA,
|
||
Broer L,
|
||
Buring JE,
|
||
Campbell A,
|
||
Campbell H,
|
||
Castelao JE,
|
||
Catamo E,
|
||
Chanock SJ,
|
||
Chenevix-Trench G,
|
||
Ciullo M,
|
||
Corre T,
|
||
Couch FJ,
|
||
Cox A,
|
||
Crisponi L,
|
||
Cross SS,
|
||
Cucca F,
|
||
Czene K,
|
||
Smith GD,
|
||
de Geus EJCN,
|
||
de Mutsert R,
|
||
De Vivo I,
|
||
Demerath EW,
|
||
Dennis J,
|
||
Dunning AM,
|
||
Dwek M,
|
||
Eriksson M,
|
||
Esko T,
|
||
Fasching PA,
|
||
Faul JD,
|
||
Ferrucci L,
|
||
Franceschini N,
|
||
Frayling TM,
|
||
Gago-Dominguez M,
|
||
Mezzavilla M,
|
||
García-Closas M,
|
||
Gieger C,
|
||
Giles GG,
|
||
Grallert H,
|
||
Gudbjartsson DF,
|
||
Gudnason V,
|
||
Guénel P,
|
||
Haiman CA,
|
||
Håkansson N,
|
||
Hall P,
|
||
Hayward C,
|
||
He C,
|
||
He W,
|
||
Heiss G,
|
||
Høffding MK,
|
||
Hopper JL,
|
||
Hottenga JJ,
|
||
Hu F,
|
||
Hunter D,
|
||
Ikram MA,
|
||
Jackson RD,
|
||
Joaquim MDR,
|
||
John EM,
|
||
Joshi PK,
|
||
Karasik D,
|
||
Kardia SLR,
|
||
Kartsonaki C,
|
||
Karlsson R,
|
||
Kitahara CM,
|
||
Kolcic I,
|
||
Kooperberg C,
|
||
Kraft P,
|
||
Kurian AW,
|
||
Kutalik Z,
|
||
La Bianca M,
|
||
LaChance G,
|
||
Langenberg C,
|
||
Launer LJ,
|
||
Laven JSE,
|
||
Lawlor DA,
|
||
Le Marchand L,
|
||
Li J,
|
||
Lindblom A,
|
||
Lindstrom S,
|
||
Lindstrom T,
|
||
Linet M,
|
||
Liu Y,
|
||
Liu S,
|
||
Luan J,
|
||
Mägi R,
|
||
Magnusson PKE,
|
||
Mangino M,
|
||
Mannermaa A,
|
||
Marco B,
|
||
Marten J,
|
||
Martin NG,
|
||
Mbarek H,
|
||
McKnight B,
|
||
Medland SE,
|
||
Meisinger C,
|
||
Meitinger T,
|
||
Menni C,
|
||
Metspalu A,
|
||
Milani L,
|
||
Milne RL,
|
||
Montgomery GW,
|
||
Mook-Kanamori DO,
|
||
Mulas A,
|
||
Mulligan AM,
|
||
Murray A,
|
||
Nalls MA,
|
||
Newman A,
|
||
Noordam R,
|
||
Nutile T,
|
||
Nyholt DR,
|
||
Olshan AF,
|
||
Olsson H,
|
||
Painter JN,
|
||
Patel AV,
|
||
Pedersen NL,
|
||
Perjakova N,
|
||
Peters A,
|
||
Peters U,
|
||
Pharoah PDP,
|
||
Polasek O,
|
||
Porcu E,
|
||
Psaty BM,
|
||
Rahman I,
|
||
Rennert G,
|
||
Rennert HS,
|
||
Ridker PM,
|
||
Ring SM,
|
||
Robino A,
|
||
Rose LM,
|
||
Rosendaal FR,
|
||
Rossouw J,
|
||
Rudan I,
|
||
Rueedi R,
|
||
Ruggiero D,
|
||
Sala CF,
|
||
Saloustros E,
|
||
Sandler DP,
|
||
Sanna S,
|
||
Sawyer EJ,
|
||
Sarnowski C,
|
||
Schlessinger D,
|
||
Schmidt MK,
|
||
Schoemaker MJ,
|
||
Schraut KE,
|
||
Scott C,
|
||
Shekari S,
|
||
Shrikhande A,
|
||
Smith AV,
|
||
Smith BH,
|
||
Smith JA,
|
||
Sorice R,
|
||
Southey MC,
|
||
Spector TD,
|
||
Spinelli JJ,
|
||
Stampfer M,
|
||
Stöckl D,
|
||
van Meurs JBJ,
|
||
Strauch K,
|
||
Styrkarsdottir U,
|
||
Swerdlow AJ,
|
||
Tanaka T,
|
||
Teras LR,
|
||
Teumer A,
|
||
Þorsteinsdottir U,
|
||
Timpson NJ,
|
||
Toniolo D,
|
||
Traglia M,
|
||
Troester MA,
|
||
Truong T,
|
||
Tyrrell J,
|
||
Uitterlinden AG,
|
||
Ulivi S,
|
||
Vachon CM,
|
||
Vitart V,
|
||
Völker U,
|
||
Vollenweider P,
|
||
Völzke H,
|
||
Wang Q,
|
||
Wareham NJ,
|
||
Weinberg CR,
|
||
Weir DR,
|
||
Wilcox AN,
|
||
van Dijk KW,
|
||
Willemsen G,
|
||
Wilson JF,
|
||
Wolffenbuttel BHR,
|
||
Wolk A,
|
||
Wood AR,
|
||
Zhao W,
|
||
Zygmunt M;
|
||
Biobank-based Integrative Omics Study (BIOS) Consortium;
|
||
eQTLGen Consortium;
|
||
Biobank Japan Project;
|
||
China Kadoorie Biobank Collaborative Group;
|
||
kConFab Investigators;
|
||
LifeLines Cohort Study;
|
||
InterAct consortium;
|
||
23andMe Research Team,
|
||
Chen Z,
|
||
Li L,
|
||
Franke L,
|
||
Burgess S,
|
||
Deelen P,
|
||
Pers TH,
|
||
Grøndahl ML,
|
||
Andersen CY,
|
||
Pujol A,
|
||
Lopez-Contreras AJ,
|
||
Daniel JA,
|
||
Stefansson K,
|
||
Chang-Claude J,
|
||
van der Schouw YT,
|
||
Lunetta KL,
|
||
Chasman DI,
|
||
Easton DF,
|
||
Visser JA,
|
||
Ozanne SE,
|
||
Namekawa SH,
|
||
Solc P,
|
||
Murabito JM,
|
||
Ong KK,
|
||
Hoffmann ER,
|
||
Murray A,
|
||
Roig I,
|
||
Perry JRB</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2021 Aug;596(7872):393-397.
|
||
Epub 2021 Aug 4
|
||
doi: 10.1038/s41586-021-03779-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34349265" target="_blank">34349265</a><a href="/pmc/articles/PMC7611832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34237774">Mapping the human genetic architecture of COVID-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">COVID-19 Host Genetics Initiative</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2021 Dec;600(7889):472-477.
|
||
Epub 2021 Jul 8
|
||
doi: 10.1038/s41586-021-03767-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34237774" target="_blank">34237774</a><a href="/pmc/articles/PMC8674144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33065120">Rationale and design of ApoA-I Event Reducing in Ischemic Syndromes II (AEGIS-II): A phase 3, multicenter, double-blind, randomized, placebo-controlled, parallel-group study to investigate the efficacy and safety of CSL112 in subjects after acute myocardial infarction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gibson CM,
|
||
Kastelein JJP,
|
||
Phillips AT,
|
||
Aylward PE,
|
||
Yee MK,
|
||
Tendera M,
|
||
Nicholls SJ,
|
||
Pocock S,
|
||
Goodman SG,
|
||
Alexander JH,
|
||
Lincoff AM,
|
||
Bode C,
|
||
Duffy D,
|
||
Heise M,
|
||
Berman G,
|
||
Mears SJ,
|
||
Tricoci P,
|
||
Deckelbaum LI,
|
||
Steg PG,
|
||
Ridker P,
|
||
Mehran R</span><br />
|
||
<span class="medgenPMjournal">Am Heart J</span>
|
||
2021 Jan;231:121-127.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1016/j.ahj.2020.10.052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33065120" target="_blank">33065120</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20II%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 (106)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38605021">Gastric neuroendocrine neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamberti G,
|
||
Panzuto F,
|
||
Pavel M,
|
||
O'Toole D,
|
||
Ambrosini V,
|
||
Falconi M,
|
||
Garcia-Carbonero R,
|
||
Riechelmann RP,
|
||
Rindi G,
|
||
Campana D</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2024 Apr 11;10(1):25.
|
||
doi: 10.1038/s41572-024-00508-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38605021" target="_blank">38605021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35758521">ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mearin ML,
|
||
Agardh D,
|
||
Antunes H,
|
||
Al-Toma A,
|
||
Auricchio R,
|
||
Castillejo G,
|
||
Catassi C,
|
||
Ciacci C,
|
||
Discepolo V,
|
||
Dolinsek J,
|
||
Donat E,
|
||
Gillett P,
|
||
Guandalini S,
|
||
Husby Md DMSc S,
|
||
Koletzko Md S,
|
||
Koltai T,
|
||
Korponay-Szabó IR,
|
||
Kurppa K,
|
||
Lionetti E,
|
||
Mårild K,
|
||
Martinez Ojinaga E,
|
||
Meijer C,
|
||
Monachesi C,
|
||
Polanco I,
|
||
Popp A,
|
||
Roca M,
|
||
Rodriguez-Herrera A,
|
||
Shamir R,
|
||
Stordal K,
|
||
Troncone R,
|
||
Valitutti F,
|
||
Vreugdenhil A,
|
||
Wessels M,
|
||
Whiting P;
|
||
ESPGHAN Special Interest Group on Celiac Disease</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2022 Sep 1;75(3):369-386.
|
||
Epub 2022 Jun 27
|
||
doi: 10.1097/MPG.0000000000003540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35758521" target="_blank">35758521</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34001645">Diagnostic accuracy of non-invasive tests for advanced fibrosis in patients with NAFLD: an individual patient data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mózes FE,
|
||
Lee JA,
|
||
Selvaraj EA,
|
||
Jayaswal ANA,
|
||
Trauner M,
|
||
Boursier J,
|
||
Fournier C,
|
||
Staufer K,
|
||
Stauber RE,
|
||
Bugianesi E,
|
||
Younes R,
|
||
Gaia S,
|
||
Lupșor-Platon M,
|
||
Petta S,
|
||
Shima T,
|
||
Okanoue T,
|
||
Mahadeva S,
|
||
Chan WK,
|
||
Eddowes PJ,
|
||
Hirschfield GM,
|
||
Newsome PN,
|
||
Wong VW,
|
||
de Ledinghen V,
|
||
Fan J,
|
||
Shen F,
|
||
Cobbold JF,
|
||
Sumida Y,
|
||
Okajima A,
|
||
Schattenberg JM,
|
||
Labenz C,
|
||
Kim W,
|
||
Lee MS,
|
||
Wiegand J,
|
||
Karlas T,
|
||
Yılmaz Y,
|
||
Aithal GP,
|
||
Palaniyappan N,
|
||
Cassinotto C,
|
||
Aggarwal S,
|
||
Garg H,
|
||
Ooi GJ,
|
||
Nakajima A,
|
||
Yoneda M,
|
||
Ziol M,
|
||
Barget N,
|
||
Geier A,
|
||
Tuthill T,
|
||
Brosnan MJ,
|
||
Anstee QM,
|
||
Neubauer S,
|
||
Harrison SA,
|
||
Bossuyt PM,
|
||
Pavlides M;
|
||
LITMUS Investigators</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2022 May;71(5):1006-1019.
|
||
Epub 2021 May 17
|
||
doi: 10.1136/gutjnl-2021-324243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34001645" target="_blank">34001645</a><a href="/pmc/articles/PMC8995830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34349265">Genetic insights into biological mechanisms governing human ovarian ageing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruth KS,
|
||
Day FR,
|
||
Hussain J,
|
||
Martínez-Marchal A,
|
||
Aiken CE,
|
||
Azad A,
|
||
Thompson DJ,
|
||
Knoblochova L,
|
||
Abe H,
|
||
Tarry-Adkins JL,
|
||
Gonzalez JM,
|
||
Fontanillas P,
|
||
Claringbould A,
|
||
Bakker OB,
|
||
Sulem P,
|
||
Walters RG,
|
||
Terao C,
|
||
Turon S,
|
||
Horikoshi M,
|
||
Lin K,
|
||
Onland-Moret NC,
|
||
Sankar A,
|
||
Hertz EPT,
|
||
Timshel PN,
|
||
Shukla V,
|
||
Borup R,
|
||
Olsen KW,
|
||
Aguilera P,
|
||
Ferrer-Roda M,
|
||
Huang Y,
|
||
Stankovic S,
|
||
Timmers PRHJ,
|
||
Ahearn TU,
|
||
Alizadeh BZ,
|
||
Naderi E,
|
||
Andrulis IL,
|
||
Arnold AM,
|
||
Aronson KJ,
|
||
Augustinsson A,
|
||
Bandinelli S,
|
||
Barbieri CM,
|
||
Beaumont RN,
|
||
Becher H,
|
||
Beckmann MW,
|
||
Benonisdottir S,
|
||
Bergmann S,
|
||
Bochud M,
|
||
Boerwinkle E,
|
||
Bojesen SE,
|
||
Bolla MK,
|
||
Boomsma DI,
|
||
Bowker N,
|
||
Brody JA,
|
||
Broer L,
|
||
Buring JE,
|
||
Campbell A,
|
||
Campbell H,
|
||
Castelao JE,
|
||
Catamo E,
|
||
Chanock SJ,
|
||
Chenevix-Trench G,
|
||
Ciullo M,
|
||
Corre T,
|
||
Couch FJ,
|
||
Cox A,
|
||
Crisponi L,
|
||
Cross SS,
|
||
Cucca F,
|
||
Czene K,
|
||
Smith GD,
|
||
de Geus EJCN,
|
||
de Mutsert R,
|
||
De Vivo I,
|
||
Demerath EW,
|
||
Dennis J,
|
||
Dunning AM,
|
||
Dwek M,
|
||
Eriksson M,
|
||
Esko T,
|
||
Fasching PA,
|
||
Faul JD,
|
||
Ferrucci L,
|
||
Franceschini N,
|
||
Frayling TM,
|
||
Gago-Dominguez M,
|
||
Mezzavilla M,
|
||
García-Closas M,
|
||
Gieger C,
|
||
Giles GG,
|
||
Grallert H,
|
||
Gudbjartsson DF,
|
||
Gudnason V,
|
||
Guénel P,
|
||
Haiman CA,
|
||
Håkansson N,
|
||
Hall P,
|
||
Hayward C,
|
||
He C,
|
||
He W,
|
||
Heiss G,
|
||
Høffding MK,
|
||
Hopper JL,
|
||
Hottenga JJ,
|
||
Hu F,
|
||
Hunter D,
|
||
Ikram MA,
|
||
Jackson RD,
|
||
Joaquim MDR,
|
||
John EM,
|
||
Joshi PK,
|
||
Karasik D,
|
||
Kardia SLR,
|
||
Kartsonaki C,
|
||
Karlsson R,
|
||
Kitahara CM,
|
||
Kolcic I,
|
||
Kooperberg C,
|
||
Kraft P,
|
||
Kurian AW,
|
||
Kutalik Z,
|
||
La Bianca M,
|
||
LaChance G,
|
||
Langenberg C,
|
||
Launer LJ,
|
||
Laven JSE,
|
||
Lawlor DA,
|
||
Le Marchand L,
|
||
Li J,
|
||
Lindblom A,
|
||
Lindstrom S,
|
||
Lindstrom T,
|
||
Linet M,
|
||
Liu Y,
|
||
Liu S,
|
||
Luan J,
|
||
Mägi R,
|
||
Magnusson PKE,
|
||
Mangino M,
|
||
Mannermaa A,
|
||
Marco B,
|
||
Marten J,
|
||
Martin NG,
|
||
Mbarek H,
|
||
McKnight B,
|
||
Medland SE,
|
||
Meisinger C,
|
||
Meitinger T,
|
||
Menni C,
|
||
Metspalu A,
|
||
Milani L,
|
||
Milne RL,
|
||
Montgomery GW,
|
||
Mook-Kanamori DO,
|
||
Mulas A,
|
||
Mulligan AM,
|
||
Murray A,
|
||
Nalls MA,
|
||
Newman A,
|
||
Noordam R,
|
||
Nutile T,
|
||
Nyholt DR,
|
||
Olshan AF,
|
||
Olsson H,
|
||
Painter JN,
|
||
Patel AV,
|
||
Pedersen NL,
|
||
Perjakova N,
|
||
Peters A,
|
||
Peters U,
|
||
Pharoah PDP,
|
||
Polasek O,
|
||
Porcu E,
|
||
Psaty BM,
|
||
Rahman I,
|
||
Rennert G,
|
||
Rennert HS,
|
||
Ridker PM,
|
||
Ring SM,
|
||
Robino A,
|
||
Rose LM,
|
||
Rosendaal FR,
|
||
Rossouw J,
|
||
Rudan I,
|
||
Rueedi R,
|
||
Ruggiero D,
|
||
Sala CF,
|
||
Saloustros E,
|
||
Sandler DP,
|
||
Sanna S,
|
||
Sawyer EJ,
|
||
Sarnowski C,
|
||
Schlessinger D,
|
||
Schmidt MK,
|
||
Schoemaker MJ,
|
||
Schraut KE,
|
||
Scott C,
|
||
Shekari S,
|
||
Shrikhande A,
|
||
Smith AV,
|
||
Smith BH,
|
||
Smith JA,
|
||
Sorice R,
|
||
Southey MC,
|
||
Spector TD,
|
||
Spinelli JJ,
|
||
Stampfer M,
|
||
Stöckl D,
|
||
van Meurs JBJ,
|
||
Strauch K,
|
||
Styrkarsdottir U,
|
||
Swerdlow AJ,
|
||
Tanaka T,
|
||
Teras LR,
|
||
Teumer A,
|
||
Þorsteinsdottir U,
|
||
Timpson NJ,
|
||
Toniolo D,
|
||
Traglia M,
|
||
Troester MA,
|
||
Truong T,
|
||
Tyrrell J,
|
||
Uitterlinden AG,
|
||
Ulivi S,
|
||
Vachon CM,
|
||
Vitart V,
|
||
Völker U,
|
||
Vollenweider P,
|
||
Völzke H,
|
||
Wang Q,
|
||
Wareham NJ,
|
||
Weinberg CR,
|
||
Weir DR,
|
||
Wilcox AN,
|
||
van Dijk KW,
|
||
Willemsen G,
|
||
Wilson JF,
|
||
Wolffenbuttel BHR,
|
||
Wolk A,
|
||
Wood AR,
|
||
Zhao W,
|
||
Zygmunt M;
|
||
Biobank-based Integrative Omics Study (BIOS) Consortium;
|
||
eQTLGen Consortium;
|
||
Biobank Japan Project;
|
||
China Kadoorie Biobank Collaborative Group;
|
||
kConFab Investigators;
|
||
LifeLines Cohort Study;
|
||
InterAct consortium;
|
||
23andMe Research Team,
|
||
Chen Z,
|
||
Li L,
|
||
Franke L,
|
||
Burgess S,
|
||
Deelen P,
|
||
Pers TH,
|
||
Grøndahl ML,
|
||
Andersen CY,
|
||
Pujol A,
|
||
Lopez-Contreras AJ,
|
||
Daniel JA,
|
||
Stefansson K,
|
||
Chang-Claude J,
|
||
van der Schouw YT,
|
||
Lunetta KL,
|
||
Chasman DI,
|
||
Easton DF,
|
||
Visser JA,
|
||
Ozanne SE,
|
||
Namekawa SH,
|
||
Solc P,
|
||
Murabito JM,
|
||
Ong KK,
|
||
Hoffmann ER,
|
||
Murray A,
|
||
Roig I,
|
||
Perry JRB</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2021 Aug;596(7872):393-397.
|
||
Epub 2021 Aug 4
|
||
doi: 10.1038/s41586-021-03779-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34349265" target="_blank">34349265</a><a href="/pmc/articles/PMC7611832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31120440">RANKL inhibition improves muscle strength and insulin sensitivity and restores bone mass.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnet N,
|
||
Bourgoin L,
|
||
Biver E,
|
||
Douni E,
|
||
Ferrari S</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2019 May 23;129(8):3214-3223.
|
||
doi: 10.1172/JCI125915.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31120440" target="_blank">31120440</a><a href="/pmc/articles/PMC6668701" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20II%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 (69)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38588930">Effect of Reconstituted Human Apolipoprotein A-I on Recurrent Ischemic Events in Survivors of Acute MI.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Povsic TJ,
|
||
Korjian S,
|
||
Bahit MC,
|
||
Chi G,
|
||
Duffy D,
|
||
Alexander JH,
|
||
Vinereanu D,
|
||
Tricoci P,
|
||
Mears SJ,
|
||
Deckelbaum LI,
|
||
Bonaca M,
|
||
Ridker PM,
|
||
Goodman SG,
|
||
Cornel JH,
|
||
Lewis BS,
|
||
Parkhomenko A,
|
||
Lopes RD,
|
||
Aylward P,
|
||
Lincoff AM,
|
||
Heise M,
|
||
Sacks F,
|
||
Nicolau JC,
|
||
Merkely B,
|
||
Trebacz J,
|
||
Libby P,
|
||
Nicholls SJ,
|
||
Pocock S,
|
||
Bhatt DL,
|
||
Kastelein J,
|
||
Bode C,
|
||
Mahaffey KW,
|
||
Steg PG,
|
||
Tendera M,
|
||
Bainey KR,
|
||
Harrington RA,
|
||
Mehran R,
|
||
Duerschmied D,
|
||
Kingwell BA,
|
||
Gibson CM;
|
||
AEGIS-II Committees and Investigators</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2024 Jun 4;83(22):2163-2174.
|
||
Epub 2024 Apr 6
|
||
doi: 10.1016/j.jacc.2024.03.396.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38588930" target="_blank">38588930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35700142">Design of the COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint study (CONFIDENCE).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green JB,
|
||
Mottl AK,
|
||
Bakris G,
|
||
Heerspink HJL,
|
||
Mann JFE,
|
||
McGill JB,
|
||
Nangaku M,
|
||
Rossing P,
|
||
Scott C,
|
||
Gay A,
|
||
Agarwal R</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2023 Mar 31;38(4):894-903.
|
||
doi: 10.1093/ndt/gfac198.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35700142" target="_blank">35700142</a><a href="/pmc/articles/PMC10064838" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34237774">Mapping the human genetic architecture of COVID-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">COVID-19 Host Genetics Initiative</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2021 Dec;600(7889):472-477.
|
||
Epub 2021 Jul 8
|
||
doi: 10.1038/s41586-021-03767-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34237774" target="_blank">34237774</a><a href="/pmc/articles/PMC8674144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33267610">Myocardial Infarction in the ISCHEMIA Trial: Impact of Different Definitions on Incidence, Prognosis, and Treatment Comparisons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaitman BR,
|
||
Alexander KP,
|
||
Cyr DD,
|
||
Berger JS,
|
||
Reynolds HR,
|
||
Bangalore S,
|
||
Boden WE,
|
||
Lopes RD,
|
||
Demkow M,
|
||
Piero Perna G,
|
||
Riezebos RK,
|
||
McFalls EO,
|
||
Banerjee S,
|
||
Bagai A,
|
||
Gosselin G,
|
||
O'Brien SM,
|
||
Rockhold FW,
|
||
Waters DD,
|
||
Thygesen KA,
|
||
Stone GW,
|
||
White HD,
|
||
Maron DJ,
|
||
Hochman JS;
|
||
ISCHEMIA Research Group</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2021 Feb 23;143(8):790-804.
|
||
Epub 2020 Dec 3
|
||
doi: 10.1161/CIRCULATIONAHA.120.047987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33267610" target="_blank">33267610</a><a href="/pmc/articles/PMC7902479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33065120">Rationale and design of ApoA-I Event Reducing in Ischemic Syndromes II (AEGIS-II): A phase 3, multicenter, double-blind, randomized, placebo-controlled, parallel-group study to investigate the efficacy and safety of CSL112 in subjects after acute myocardial infarction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gibson CM,
|
||
Kastelein JJP,
|
||
Phillips AT,
|
||
Aylward PE,
|
||
Yee MK,
|
||
Tendera M,
|
||
Nicholls SJ,
|
||
Pocock S,
|
||
Goodman SG,
|
||
Alexander JH,
|
||
Lincoff AM,
|
||
Bode C,
|
||
Duffy D,
|
||
Heise M,
|
||
Berman G,
|
||
Mears SJ,
|
||
Tricoci P,
|
||
Deckelbaum LI,
|
||
Steg PG,
|
||
Ridker P,
|
||
Mehran R</span><br />
|
||
<span class="medgenPMjournal">Am Heart J</span>
|
||
2021 Jan;231:121-127.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1016/j.ahj.2020.10.052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33065120" target="_blank">33065120</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20II%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 (80)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36948887">p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Köbel M,
|
||
Kang EY,
|
||
Weir A,
|
||
Rambau PF,
|
||
Lee CH,
|
||
Nelson GS,
|
||
Ghatage P,
|
||
Meagher NS,
|
||
Riggan MJ,
|
||
Alsop J,
|
||
Anglesio MS,
|
||
Beckmann MW,
|
||
Bisinotto C,
|
||
Boisen M,
|
||
Boros J,
|
||
Brand AH,
|
||
Brooks-Wilson A,
|
||
Carney ME,
|
||
Coulson P,
|
||
Courtney-Brooks M,
|
||
Cushing-Haugen KL,
|
||
Cybulski C,
|
||
Deen S,
|
||
El-Bahrawy MA,
|
||
Elishaev E,
|
||
Erber R,
|
||
Fereday S;
|
||
AOCS Group,
|
||
Fischer A,
|
||
Gayther SA,
|
||
Barquin-Garcia A,
|
||
Gentry-Maharaj A,
|
||
Gilks CB,
|
||
Gronwald H,
|
||
Grube M,
|
||
Harnett PR,
|
||
Harris HR,
|
||
Hartkopf AD,
|
||
Hartmann A,
|
||
Hein A,
|
||
Hendley J,
|
||
Hernandez BY,
|
||
Huang Y,
|
||
Jakubowska A,
|
||
Jimenez-Linan M,
|
||
Jones ME,
|
||
Kennedy CJ,
|
||
Kluz T,
|
||
Koziak JM,
|
||
Lesnock J,
|
||
Lester J,
|
||
Lubiński J,
|
||
Longacre TA,
|
||
Lycke M,
|
||
Mateoiu C,
|
||
McCauley BM,
|
||
McGuire V,
|
||
Ney B,
|
||
Olawaiye A,
|
||
Orsulic S,
|
||
Osorio A,
|
||
Paz-Ares L,
|
||
Ramón Y Cajal T,
|
||
Rothstein JH,
|
||
Ruebner M,
|
||
Schoemaker MJ,
|
||
Shah M,
|
||
Sharma R,
|
||
Sherman ME,
|
||
Shvetsov YB,
|
||
Singh N,
|
||
Steed H,
|
||
Storr SJ,
|
||
Talhouk A,
|
||
Traficante N,
|
||
Wang C,
|
||
Whittemore AS,
|
||
Widschwendter M,
|
||
Wilkens LR,
|
||
Winham SJ,
|
||
Benitez J,
|
||
Berchuck A,
|
||
Bowtell DD,
|
||
Candido Dos Reis FJ,
|
||
Campbell I,
|
||
Cook LS,
|
||
DeFazio A,
|
||
Doherty JA,
|
||
Fasching PA,
|
||
Fortner RT,
|
||
García MJ,
|
||
Goodman MT,
|
||
Goode EL,
|
||
Gronwald J,
|
||
Huntsman DG,
|
||
Karlan BY,
|
||
Kelemen LE,
|
||
Kommoss S,
|
||
Le ND,
|
||
Martin SG,
|
||
Menon U,
|
||
Modugno F,
|
||
Pharoah PD,
|
||
Schildkraut JM,
|
||
Sieh W,
|
||
Staebler A,
|
||
Sundfeldt K,
|
||
Swerdlow AJ,
|
||
Ramus SJ,
|
||
Brenton JD</span><br />
|
||
<span class="medgenPMjournal">J Pathol Clin Res</span>
|
||
2023 May;9(3):208-222.
|
||
Epub 2023 Mar 22
|
||
doi: 10.1002/cjp2.311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36948887" target="_blank">36948887</a><a href="/pmc/articles/PMC10073933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35758521">ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mearin ML,
|
||
Agardh D,
|
||
Antunes H,
|
||
Al-Toma A,
|
||
Auricchio R,
|
||
Castillejo G,
|
||
Catassi C,
|
||
Ciacci C,
|
||
Discepolo V,
|
||
Dolinsek J,
|
||
Donat E,
|
||
Gillett P,
|
||
Guandalini S,
|
||
Husby Md DMSc S,
|
||
Koletzko Md S,
|
||
Koltai T,
|
||
Korponay-Szabó IR,
|
||
Kurppa K,
|
||
Lionetti E,
|
||
Mårild K,
|
||
Martinez Ojinaga E,
|
||
Meijer C,
|
||
Monachesi C,
|
||
Polanco I,
|
||
Popp A,
|
||
Roca M,
|
||
Rodriguez-Herrera A,
|
||
Shamir R,
|
||
Stordal K,
|
||
Troncone R,
|
||
Valitutti F,
|
||
Vreugdenhil A,
|
||
Wessels M,
|
||
Whiting P;
|
||
ESPGHAN Special Interest Group on Celiac Disease</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2022 Sep 1;75(3):369-386.
|
||
Epub 2022 Jun 27
|
||
doi: 10.1097/MPG.0000000000003540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35758521" target="_blank">35758521</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34349265">Genetic insights into biological mechanisms governing human ovarian ageing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruth KS,
|
||
Day FR,
|
||
Hussain J,
|
||
Martínez-Marchal A,
|
||
Aiken CE,
|
||
Azad A,
|
||
Thompson DJ,
|
||
Knoblochova L,
|
||
Abe H,
|
||
Tarry-Adkins JL,
|
||
Gonzalez JM,
|
||
Fontanillas P,
|
||
Claringbould A,
|
||
Bakker OB,
|
||
Sulem P,
|
||
Walters RG,
|
||
Terao C,
|
||
Turon S,
|
||
Horikoshi M,
|
||
Lin K,
|
||
Onland-Moret NC,
|
||
Sankar A,
|
||
Hertz EPT,
|
||
Timshel PN,
|
||
Shukla V,
|
||
Borup R,
|
||
Olsen KW,
|
||
Aguilera P,
|
||
Ferrer-Roda M,
|
||
Huang Y,
|
||
Stankovic S,
|
||
Timmers PRHJ,
|
||
Ahearn TU,
|
||
Alizadeh BZ,
|
||
Naderi E,
|
||
Andrulis IL,
|
||
Arnold AM,
|
||
Aronson KJ,
|
||
Augustinsson A,
|
||
Bandinelli S,
|
||
Barbieri CM,
|
||
Beaumont RN,
|
||
Becher H,
|
||
Beckmann MW,
|
||
Benonisdottir S,
|
||
Bergmann S,
|
||
Bochud M,
|
||
Boerwinkle E,
|
||
Bojesen SE,
|
||
Bolla MK,
|
||
Boomsma DI,
|
||
Bowker N,
|
||
Brody JA,
|
||
Broer L,
|
||
Buring JE,
|
||
Campbell A,
|
||
Campbell H,
|
||
Castelao JE,
|
||
Catamo E,
|
||
Chanock SJ,
|
||
Chenevix-Trench G,
|
||
Ciullo M,
|
||
Corre T,
|
||
Couch FJ,
|
||
Cox A,
|
||
Crisponi L,
|
||
Cross SS,
|
||
Cucca F,
|
||
Czene K,
|
||
Smith GD,
|
||
de Geus EJCN,
|
||
de Mutsert R,
|
||
De Vivo I,
|
||
Demerath EW,
|
||
Dennis J,
|
||
Dunning AM,
|
||
Dwek M,
|
||
Eriksson M,
|
||
Esko T,
|
||
Fasching PA,
|
||
Faul JD,
|
||
Ferrucci L,
|
||
Franceschini N,
|
||
Frayling TM,
|
||
Gago-Dominguez M,
|
||
Mezzavilla M,
|
||
García-Closas M,
|
||
Gieger C,
|
||
Giles GG,
|
||
Grallert H,
|
||
Gudbjartsson DF,
|
||
Gudnason V,
|
||
Guénel P,
|
||
Haiman CA,
|
||
Håkansson N,
|
||
Hall P,
|
||
Hayward C,
|
||
He C,
|
||
He W,
|
||
Heiss G,
|
||
Høffding MK,
|
||
Hopper JL,
|
||
Hottenga JJ,
|
||
Hu F,
|
||
Hunter D,
|
||
Ikram MA,
|
||
Jackson RD,
|
||
Joaquim MDR,
|
||
John EM,
|
||
Joshi PK,
|
||
Karasik D,
|
||
Kardia SLR,
|
||
Kartsonaki C,
|
||
Karlsson R,
|
||
Kitahara CM,
|
||
Kolcic I,
|
||
Kooperberg C,
|
||
Kraft P,
|
||
Kurian AW,
|
||
Kutalik Z,
|
||
La Bianca M,
|
||
LaChance G,
|
||
Langenberg C,
|
||
Launer LJ,
|
||
Laven JSE,
|
||
Lawlor DA,
|
||
Le Marchand L,
|
||
Li J,
|
||
Lindblom A,
|
||
Lindstrom S,
|
||
Lindstrom T,
|
||
Linet M,
|
||
Liu Y,
|
||
Liu S,
|
||
Luan J,
|
||
Mägi R,
|
||
Magnusson PKE,
|
||
Mangino M,
|
||
Mannermaa A,
|
||
Marco B,
|
||
Marten J,
|
||
Martin NG,
|
||
Mbarek H,
|
||
McKnight B,
|
||
Medland SE,
|
||
Meisinger C,
|
||
Meitinger T,
|
||
Menni C,
|
||
Metspalu A,
|
||
Milani L,
|
||
Milne RL,
|
||
Montgomery GW,
|
||
Mook-Kanamori DO,
|
||
Mulas A,
|
||
Mulligan AM,
|
||
Murray A,
|
||
Nalls MA,
|
||
Newman A,
|
||
Noordam R,
|
||
Nutile T,
|
||
Nyholt DR,
|
||
Olshan AF,
|
||
Olsson H,
|
||
Painter JN,
|
||
Patel AV,
|
||
Pedersen NL,
|
||
Perjakova N,
|
||
Peters A,
|
||
Peters U,
|
||
Pharoah PDP,
|
||
Polasek O,
|
||
Porcu E,
|
||
Psaty BM,
|
||
Rahman I,
|
||
Rennert G,
|
||
Rennert HS,
|
||
Ridker PM,
|
||
Ring SM,
|
||
Robino A,
|
||
Rose LM,
|
||
Rosendaal FR,
|
||
Rossouw J,
|
||
Rudan I,
|
||
Rueedi R,
|
||
Ruggiero D,
|
||
Sala CF,
|
||
Saloustros E,
|
||
Sandler DP,
|
||
Sanna S,
|
||
Sawyer EJ,
|
||
Sarnowski C,
|
||
Schlessinger D,
|
||
Schmidt MK,
|
||
Schoemaker MJ,
|
||
Schraut KE,
|
||
Scott C,
|
||
Shekari S,
|
||
Shrikhande A,
|
||
Smith AV,
|
||
Smith BH,
|
||
Smith JA,
|
||
Sorice R,
|
||
Southey MC,
|
||
Spector TD,
|
||
Spinelli JJ,
|
||
Stampfer M,
|
||
Stöckl D,
|
||
van Meurs JBJ,
|
||
Strauch K,
|
||
Styrkarsdottir U,
|
||
Swerdlow AJ,
|
||
Tanaka T,
|
||
Teras LR,
|
||
Teumer A,
|
||
Þorsteinsdottir U,
|
||
Timpson NJ,
|
||
Toniolo D,
|
||
Traglia M,
|
||
Troester MA,
|
||
Truong T,
|
||
Tyrrell J,
|
||
Uitterlinden AG,
|
||
Ulivi S,
|
||
Vachon CM,
|
||
Vitart V,
|
||
Völker U,
|
||
Vollenweider P,
|
||
Völzke H,
|
||
Wang Q,
|
||
Wareham NJ,
|
||
Weinberg CR,
|
||
Weir DR,
|
||
Wilcox AN,
|
||
van Dijk KW,
|
||
Willemsen G,
|
||
Wilson JF,
|
||
Wolffenbuttel BHR,
|
||
Wolk A,
|
||
Wood AR,
|
||
Zhao W,
|
||
Zygmunt M;
|
||
Biobank-based Integrative Omics Study (BIOS) Consortium;
|
||
eQTLGen Consortium;
|
||
Biobank Japan Project;
|
||
China Kadoorie Biobank Collaborative Group;
|
||
kConFab Investigators;
|
||
LifeLines Cohort Study;
|
||
InterAct consortium;
|
||
23andMe Research Team,
|
||
Chen Z,
|
||
Li L,
|
||
Franke L,
|
||
Burgess S,
|
||
Deelen P,
|
||
Pers TH,
|
||
Grøndahl ML,
|
||
Andersen CY,
|
||
Pujol A,
|
||
Lopez-Contreras AJ,
|
||
Daniel JA,
|
||
Stefansson K,
|
||
Chang-Claude J,
|
||
van der Schouw YT,
|
||
Lunetta KL,
|
||
Chasman DI,
|
||
Easton DF,
|
||
Visser JA,
|
||
Ozanne SE,
|
||
Namekawa SH,
|
||
Solc P,
|
||
Murabito JM,
|
||
Ong KK,
|
||
Hoffmann ER,
|
||
Murray A,
|
||
Roig I,
|
||
Perry JRB</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2021 Aug;596(7872):393-397.
|
||
Epub 2021 Aug 4
|
||
doi: 10.1038/s41586-021-03779-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34349265" target="_blank">34349265</a><a href="/pmc/articles/PMC7611832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33730454">Two Randomized Trials of Neutralizing Antibodies to Prevent HIV-1 Acquisition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corey L,
|
||
Gilbert PB,
|
||
Juraska M,
|
||
Montefiori DC,
|
||
Morris L,
|
||
Karuna ST,
|
||
Edupuganti S,
|
||
Mgodi NM,
|
||
deCamp AC,
|
||
Rudnicki E,
|
||
Huang Y,
|
||
Gonzales P,
|
||
Cabello R,
|
||
Orrell C,
|
||
Lama JR,
|
||
Laher F,
|
||
Lazarus EM,
|
||
Sanchez J,
|
||
Frank I,
|
||
Hinojosa J,
|
||
Sobieszczyk ME,
|
||
Marshall KE,
|
||
Mukwekwerere PG,
|
||
Makhema J,
|
||
Baden LR,
|
||
Mullins JI,
|
||
Williamson C,
|
||
Hural J,
|
||
McElrath MJ,
|
||
Bentley C,
|
||
Takuva S,
|
||
Gomez Lorenzo MM,
|
||
Burns DN,
|
||
Espy N,
|
||
Randhawa AK,
|
||
Kochar N,
|
||
Piwowar-Manning E,
|
||
Donnell DJ,
|
||
Sista N,
|
||
Andrew P,
|
||
Kublin JG,
|
||
Gray G,
|
||
Ledgerwood JE,
|
||
Mascola JR,
|
||
Cohen MS;
|
||
HVTN 704/HPTN 085 and HVTN 703/HPTN 081 Study Teams</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2021 Mar 18;384(11):1003-1014.
|
||
doi: 10.1056/NEJMoa2031738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33730454" target="_blank">33730454</a><a href="/pmc/articles/PMC8189692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33267610">Myocardial Infarction in the ISCHEMIA Trial: Impact of Different Definitions on Incidence, Prognosis, and Treatment Comparisons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaitman BR,
|
||
Alexander KP,
|
||
Cyr DD,
|
||
Berger JS,
|
||
Reynolds HR,
|
||
Bangalore S,
|
||
Boden WE,
|
||
Lopes RD,
|
||
Demkow M,
|
||
Piero Perna G,
|
||
Riezebos RK,
|
||
McFalls EO,
|
||
Banerjee S,
|
||
Bagai A,
|
||
Gosselin G,
|
||
O'Brien SM,
|
||
Rockhold FW,
|
||
Waters DD,
|
||
Thygesen KA,
|
||
Stone GW,
|
||
White HD,
|
||
Maron DJ,
|
||
Hochman JS;
|
||
ISCHEMIA Research Group</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2021 Feb 23;143(8):790-804.
|
||
Epub 2020 Dec 3
|
||
doi: 10.1161/CIRCULATIONAHA.120.047987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33267610" target="_blank">33267610</a><a href="/pmc/articles/PMC7902479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20II%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 (51)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38588930">Effect of Reconstituted Human Apolipoprotein A-I on Recurrent Ischemic Events in Survivors of Acute MI.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Povsic TJ,
|
||
Korjian S,
|
||
Bahit MC,
|
||
Chi G,
|
||
Duffy D,
|
||
Alexander JH,
|
||
Vinereanu D,
|
||
Tricoci P,
|
||
Mears SJ,
|
||
Deckelbaum LI,
|
||
Bonaca M,
|
||
Ridker PM,
|
||
Goodman SG,
|
||
Cornel JH,
|
||
Lewis BS,
|
||
Parkhomenko A,
|
||
Lopes RD,
|
||
Aylward P,
|
||
Lincoff AM,
|
||
Heise M,
|
||
Sacks F,
|
||
Nicolau JC,
|
||
Merkely B,
|
||
Trebacz J,
|
||
Libby P,
|
||
Nicholls SJ,
|
||
Pocock S,
|
||
Bhatt DL,
|
||
Kastelein J,
|
||
Bode C,
|
||
Mahaffey KW,
|
||
Steg PG,
|
||
Tendera M,
|
||
Bainey KR,
|
||
Harrington RA,
|
||
Mehran R,
|
||
Duerschmied D,
|
||
Kingwell BA,
|
||
Gibson CM;
|
||
AEGIS-II Committees and Investigators</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2024 Jun 4;83(22):2163-2174.
|
||
Epub 2024 Apr 6
|
||
doi: 10.1016/j.jacc.2024.03.396.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38588930" target="_blank">38588930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35980381">Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holtz AM,
|
||
VanCoillie R,
|
||
Vansickle EA,
|
||
Carere DA,
|
||
Withrow K,
|
||
Torti E,
|
||
Juusola J,
|
||
Millan F,
|
||
Person R,
|
||
Guillen Sacoto MJ,
|
||
Si Y,
|
||
Wentzensen IM,
|
||
Pugh J,
|
||
Vasileiou G,
|
||
Rieger M,
|
||
Reis A,
|
||
Argilli E,
|
||
Sherr EH,
|
||
Aldinger KA,
|
||
Dobyns WB,
|
||
Brunet T,
|
||
Hoefele J,
|
||
Wagner M,
|
||
Haber B,
|
||
Kotzaeridou U,
|
||
Keren B,
|
||
Heron D,
|
||
Mignot C,
|
||
Heide S,
|
||
Courtin T,
|
||
Buratti J,
|
||
Murugasen S,
|
||
Donald KA,
|
||
O'Heir E,
|
||
Moody S,
|
||
Kim KH,
|
||
Burton BK,
|
||
Yoon G,
|
||
Campo MD,
|
||
Masser-Frye D,
|
||
Kozenko M,
|
||
Parkinson C,
|
||
Sell SL,
|
||
Gordon PL,
|
||
Prokop JW,
|
||
Karaa A,
|
||
Bupp C,
|
||
Raby BA</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Oct;24(10):2065-2078.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1016/j.gim.2022.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35980381" target="_blank">35980381</a><a href="/pmc/articles/PMC10765599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34001645">Diagnostic accuracy of non-invasive tests for advanced fibrosis in patients with NAFLD: an individual patient data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mózes FE,
|
||
Lee JA,
|
||
Selvaraj EA,
|
||
Jayaswal ANA,
|
||
Trauner M,
|
||
Boursier J,
|
||
Fournier C,
|
||
Staufer K,
|
||
Stauber RE,
|
||
Bugianesi E,
|
||
Younes R,
|
||
Gaia S,
|
||
Lupșor-Platon M,
|
||
Petta S,
|
||
Shima T,
|
||
Okanoue T,
|
||
Mahadeva S,
|
||
Chan WK,
|
||
Eddowes PJ,
|
||
Hirschfield GM,
|
||
Newsome PN,
|
||
Wong VW,
|
||
de Ledinghen V,
|
||
Fan J,
|
||
Shen F,
|
||
Cobbold JF,
|
||
Sumida Y,
|
||
Okajima A,
|
||
Schattenberg JM,
|
||
Labenz C,
|
||
Kim W,
|
||
Lee MS,
|
||
Wiegand J,
|
||
Karlas T,
|
||
Yılmaz Y,
|
||
Aithal GP,
|
||
Palaniyappan N,
|
||
Cassinotto C,
|
||
Aggarwal S,
|
||
Garg H,
|
||
Ooi GJ,
|
||
Nakajima A,
|
||
Yoneda M,
|
||
Ziol M,
|
||
Barget N,
|
||
Geier A,
|
||
Tuthill T,
|
||
Brosnan MJ,
|
||
Anstee QM,
|
||
Neubauer S,
|
||
Harrison SA,
|
||
Bossuyt PM,
|
||
Pavlides M;
|
||
LITMUS Investigators</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2022 May;71(5):1006-1019.
|
||
Epub 2021 May 17
|
||
doi: 10.1136/gutjnl-2021-324243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34001645" target="_blank">34001645</a><a href="/pmc/articles/PMC8995830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15749232">Serine protease inhibitor kazal type 1 mutations and pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider A</span><br />
|
||
<span class="medgenPMjournal">Clin Lab Med</span>
|
||
2005 Mar;25(1):61-78.
|
||
doi: 10.1016/j.cll.2004.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15749232" target="_blank">15749232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15528018">Serine protease inhibitor Kazal type 1 mutations and pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider A</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2004 Dec;33(4):789-806.
|
||
doi: 10.1016/j.gtc.2004.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15528018" target="_blank">15528018</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20II%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (83)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37548568">Traumatic vertebral artery injury: Denver grade, bilaterality, and stroke risk. A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michalopoulos GD,
|
||
Pennington Z,
|
||
Bambakidis P,
|
||
Alexander AY,
|
||
Lakomkin N,
|
||
Charalampous C,
|
||
Sammak SE,
|
||
Hassett LC,
|
||
Graepel S,
|
||
Meyer FB,
|
||
Bydon M</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2024 Feb 1;140(2):522-536.
|
||
Epub 2023 Jul 28
|
||
doi: 10.3171/2023.5.JNS222818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37548568" target="_blank">37548568</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20II%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 (1)</a></div></div>
|
||
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|
||
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|
||
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|
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|
||
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=363722" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Alexander%20disease%20type%20II" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(alexander%20disease%20type%20ii)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Alexander%20disease%20type%20II%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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|
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<a href="/pubmed/clinical?term=Alexander%20disease%20type%20II" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Alexander%20disease%20type%20II%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1842714" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1842714" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2e67b67c23b31e05703f1">Alexander disease type II</a>
|
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<div class="ralinkpop offscreen_noflow">Alexander disease type II<div class="brieflinkpopdesc"></div></div>
|
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<div class="tertiary">MedGen</div>
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2e6772f30673f7b89131a">Alexander disease type I</a>
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