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<meta name="keywords" content="C4540040, disease or syndrome, fraser syndrome 3, frasrs3, grip1, 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="Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1621907
|
||
ConceptID=C4540040
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fraser syndrome 3<span class="h1sub">(FRASRS3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621907</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:">C4540040</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>FRASER SYNDROME 3; FRASRS3</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GRIP1 - ID: 23426 - NCBI Gene" href="/gene/23426" class="medgenPMinfo">GRIP1</a> (12q14.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054739" target="_blank">MONDO:0054739</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617667" target="_blank">617667</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_78603"><div><strong>Hypoplasia of penis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78603</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.">C0266435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78603">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20penis%22%5BClinical%20Features%5D%20OR%2078603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141577"><div><strong>Small scrotum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141577</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.">C0455792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apparently small scrotum for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141577">Feature record</a> | <a href="/medgen?term=%22Small%20scrotum%22%5BClinical%20Features%5D%20OR%20141577%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_296299"><div><strong>Bilateral renal agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>296299</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.">C1609433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral form of agenesis of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/296299">Feature record</a> | <a href="/medgen?term=%22Bilateral%20renal%20agenesis%22%5BClinical%20Features%5D%20OR%20296299%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340845"><div><strong>Hypoplasia of the bladder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340845</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.">C1855335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the urinary bladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340845">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20bladder%22%5BClinical%20Features%5D%20OR%20340845%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868560"><div><strong>Ureteral agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868560</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.">C4022959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the ureter to undergo development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868560">Feature record</a> | <a href="/medgen?term=%22Ureteral%20agenesis%22%5BClinical%20Features%5D%20OR%20868560%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322858"><div><strong>Short toe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322858</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.">C1836195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A toe that appears disproportionately short compared to the foot.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322858">Feature record</a> | <a href="/medgen?term=%22Short%20toe%22%5BClinical%20Features%5D%20OR%20322858%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_396250"><div><strong>Cutaneous syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396250</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.">C1861921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396250">Feature record</a> | <a href="/medgen?term=%22Cutaneous%20syndactyly%22%5BClinical%20Features%5D%20OR%20396250%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_416"><div><strong>Ascites</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416</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.">C0003962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416">Feature record</a> | <a href="/medgen?term=%22Ascites%22%5BClinical%20Features%5D%20OR%20416%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140913"><div><strong>Simple ear</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140913</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.">C0431483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The pinna has fewer folds and grooves than usual.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140913">Feature record</a> | <a href="/medgen?term=%22Simple%20ear%22%5BClinical%20Features%5D%20OR%20140913%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75584"><div><strong>Tracheal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75584</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.">C0265766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75584">Feature record</a> | <a href="/medgen?term=%22Tracheal%20atresia%22%5BClinical%20Features%5D%20OR%2075584%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195782"><div><strong>Abnormal lung lobation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195782</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.">C0685695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A developmental defect in the formation of pulmonary lobes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195782">Feature record</a> | <a href="/medgen?term=%22Abnormal%20lung%20lobation%22%5BClinical%20Features%5D%20OR%20195782%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66809"><div><strong>Convex nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66809</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.">C0240538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66809">Feature record</a> | <a href="/medgen?term=%22Convex%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%2066809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_81386"><div><strong>Cryptophthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>81386</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.">C0311249</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/81386">Feature record</a> | <a href="/medgen?term=%22Cryptophthalmia%22%5BClinical%20Features%5D%20OR%2081386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140869"><div><strong>Wide nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140869</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.">C0426421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140869">Feature record</a> | <a href="/medgen?term=%22Wide%20nose%22%5BClinical%20Features%5D%20OR%20140869%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86974"><div><strong>Oligohydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86974</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.">C0079924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished amniotic fluid volume in pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86974">Feature record</a> | <a href="/medgen?term=%22Oligohydramnios%22%5BClinical%20Features%5D%20OR%2086974%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105327"><div><strong>Non-immune hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105327</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.">C0455988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105327">Feature record</a> | <a href="/medgen?term=%22Non-immune%20hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%20105327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1814368"><div><strong>Sonographic non-visualized fetal bladder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814368</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.">C5676804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814368">Feature record</a> | <a href="/medgen?term=%22Sonographic%20non-visualized%20fetal%20bladder%22%5BClinical%20Features%5D%20OR%201814368%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Convex nasal ridge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_81386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptophthalmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nose</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_396250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous syndactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short toe</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-immune hydrops fetalis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligohydramnios</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1814368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sonographic non-visualized fetal bladder</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascites</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_296299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral renal agenesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of penis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the bladder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141577" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small scrotum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ureteral agenesis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal lung lobation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tracheal atresia</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simple ear</a></span></li></ul></li></ul></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/34823150">Salt supplementation in the management of orthostatic intolerance: Vasovagal syncope and postural orthostatic tachycardia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams EL,
|
||
Raj SR,
|
||
Schondorf R,
|
||
Shen WK,
|
||
Wieling W,
|
||
Claydon VE</span><br />
|
||
<span class="medgenPMjournal">Auton Neurosci</span>
|
||
2022 Jan;237:102906.
|
||
Epub 2021 Nov 11
|
||
doi: 10.1016/j.autneu.2021.102906.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34823150" target="_blank">34823150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34232459">Patient ethnicity and cascade genetic testing: a descriptive study of a publicly funded hereditary cancer program.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braley EF,
|
||
Bedard AC,
|
||
Nuk J,
|
||
Hong Q,
|
||
Bedard JEJ,
|
||
Sun S,
|
||
Schrader KA</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2022 Jul;21(3):369-374.
|
||
Epub 2021 Jul 7
|
||
doi: 10.1007/s10689-021-00270-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34232459" target="_blank">34232459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28793780">Iatrogenic Opioid Withdrawal in Critically Ill Patients: A Review of Assessment Tools and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiu AW,
|
||
Contreras S,
|
||
Mehta S,
|
||
Korman J,
|
||
Perreault MM,
|
||
Williamson DR,
|
||
Burry LD</span><br />
|
||
<span class="medgenPMjournal">Ann Pharmacother</span>
|
||
2017 Dec;51(12):1099-1111.
|
||
Epub 2017 Aug 9
|
||
doi: 10.1177/1060028017724538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28793780" target="_blank">28793780</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fraser%20syndrome%203)%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 (25)</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/38082486">Effects of Empagliflozin on Fluid Overload, Weight, and Blood Pressure in CKD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayne KJ,
|
||
Staplin N,
|
||
Keane DF,
|
||
Wanner C,
|
||
Brenner S,
|
||
Cejka V,
|
||
Stegbauer J,
|
||
Judge PK,
|
||
Preiss D,
|
||
Emberson J,
|
||
Trinca D,
|
||
Dayanandan R,
|
||
Lee R,
|
||
Nolan J,
|
||
Omata A,
|
||
Green JB,
|
||
Cherney DZI,
|
||
Hooi LS,
|
||
Pontremoli R,
|
||
Tuttle KR,
|
||
Lees JS,
|
||
Mark PB,
|
||
Davies SJ,
|
||
Hauske SJ,
|
||
Steubl D,
|
||
Brückmann M,
|
||
Landray MJ,
|
||
Baigent C,
|
||
Haynes R,
|
||
Herrington WG;
|
||
EMPA-KIDNEY Collaborative Group</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2024 Feb 1;35(2):202-215.
|
||
Epub 2023 Dec 12
|
||
doi: 10.1681/ASN.0000000000000271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38082486" target="_blank">38082486</a><a href="/pmc/articles/PMC7615589" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37931634">Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rovin BH,
|
||
Barratt J,
|
||
Heerspink HJL,
|
||
Alpers CE,
|
||
Bieler S,
|
||
Chae DW,
|
||
Diva UA,
|
||
Floege J,
|
||
Gesualdo L,
|
||
Inrig JK,
|
||
Kohan DE,
|
||
Komers R,
|
||
Kooienga LA,
|
||
Lafayette R,
|
||
Maes B,
|
||
Małecki R,
|
||
Mercer A,
|
||
Noronha IL,
|
||
Oh SW,
|
||
Peh CA,
|
||
Praga M,
|
||
Preciado P,
|
||
Radhakrishnan J,
|
||
Rheault MN,
|
||
Rote WE,
|
||
Tang SCW,
|
||
Tesar V,
|
||
Trachtman H,
|
||
Trimarchi H,
|
||
Tumlin JA,
|
||
Wong MG,
|
||
Perkovic V;
|
||
DUPRO steering committee and PROTECT Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Dec 2;402(10417):2077-2090.
|
||
Epub 2023 Nov 3
|
||
doi: 10.1016/S0140-6736(23)02302-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37931634" target="_blank">37931634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35640743">Metformin: Is it a drug for all reasons and diseases?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Triggle CR,
|
||
Mohammed I,
|
||
Bshesh K,
|
||
Marei I,
|
||
Ye K,
|
||
Ding H,
|
||
MacDonald R,
|
||
Hollenberg MD,
|
||
Hill MA</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2022 Aug;133:155223.
|
||
Epub 2022 May 29
|
||
doi: 10.1016/j.metabol.2022.155223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35640743" target="_blank">35640743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33775615">Myeloablative versus Reduced-Intensity Conditioning for Hematopoietic Cell Transplantation in Acute Myelogenous Leukemia and Myelodysplastic Syndromes-Long-Term Follow-Up of the BMT CTN 0901 Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott BL,
|
||
Pasquini MC,
|
||
Fei M,
|
||
Fraser R,
|
||
Wu J,
|
||
Devine SM,
|
||
Porter DL,
|
||
Maziarz RT,
|
||
Warlick E,
|
||
Fernandez HF,
|
||
Soiffer RJ,
|
||
Alyea E,
|
||
Hamadani M,
|
||
Bashey A,
|
||
Giralt S,
|
||
Geller NL,
|
||
Leifer E,
|
||
Hourigan CS,
|
||
Gui G,
|
||
Mendizabal A,
|
||
Horowitz MM,
|
||
Deeg HJ,
|
||
Horwitz ME</span><br />
|
||
<span class="medgenPMjournal">Transplant Cell Ther</span>
|
||
2021 Jun;27(6):483.e1-483.e6.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/j.jtct.2021.02.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33775615" target="_blank">33775615</a><a href="/pmc/articles/PMC8217373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33021869">Elective Cancer Surgery in COVID-19-Free Surgical Pathways During the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glasbey JC,
|
||
Nepogodiev D,
|
||
Simoes JFF,
|
||
Omar O,
|
||
Li E,
|
||
Venn ML,
|
||
Pgdme,
|
||
Abou Chaar MK,
|
||
Capizzi V,
|
||
Chaudhry D,
|
||
Desai A,
|
||
Edwards JG,
|
||
Evans JP,
|
||
Fiore M,
|
||
Videria JF,
|
||
Ford SJ,
|
||
Ganly I,
|
||
Griffiths EA,
|
||
Gujjuri RR,
|
||
Kolias AG,
|
||
Kaafarani HMA,
|
||
Minaya-Bravo A,
|
||
McKay SC,
|
||
Mohan HM,
|
||
Roberts KJ,
|
||
San Miguel-Méndez C,
|
||
Pockney P,
|
||
Shaw R,
|
||
Smart NJ,
|
||
Stewart GD,
|
||
Sundar Mrcog S,
|
||
Vidya R,
|
||
Bhangu AA;
|
||
COVIDSurg Collaborative</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2021 Jan 1;39(1):66-78.
|
||
Epub 2020 Oct 6
|
||
doi: 10.1200/JCO.20.01933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33021869" target="_blank">33021869</a><a href="/pmc/articles/PMC8189635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fraser%20syndrome%203%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 (255)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36309514">Administration of broadly neutralizing anti-HIV-1 antibodies at ART initiation maintains long-term CD8(+) T cell immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosás-Umbert M,
|
||
Gunst JD,
|
||
Pahus MH,
|
||
Olesen R,
|
||
Schleimann M,
|
||
Denton PW,
|
||
Ramos V,
|
||
Ward A,
|
||
Kinloch NN,
|
||
Copertino DC,
|
||
Escribà T,
|
||
Llano A,
|
||
Brumme ZL,
|
||
Brad Jones R,
|
||
Mothe B,
|
||
Brander C,
|
||
Fox J,
|
||
Nussenzweig MC,
|
||
Fidler S,
|
||
Caskey M,
|
||
Tolstrup M,
|
||
Søgaard OS</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2022 Oct 29;13(1):6473.
|
||
doi: 10.1038/s41467-022-34171-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36309514" target="_blank">36309514</a><a href="/pmc/articles/PMC9617872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36070710">Randomized Trial of Metformin, Ivermectin, and Fluvoxamine for Covid-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bramante CT,
|
||
Huling JD,
|
||
Tignanelli CJ,
|
||
Buse JB,
|
||
Liebovitz DM,
|
||
Nicklas JM,
|
||
Cohen K,
|
||
Puskarich MA,
|
||
Belani HK,
|
||
Proper JL,
|
||
Siegel LK,
|
||
Klatt NR,
|
||
Odde DJ,
|
||
Luke DG,
|
||
Anderson B,
|
||
Karger AB,
|
||
Ingraham NE,
|
||
Hartman KM,
|
||
Rao V,
|
||
Hagen AA,
|
||
Patel B,
|
||
Fenno SL,
|
||
Avula N,
|
||
Reddy NV,
|
||
Erickson SM,
|
||
Lindberg S,
|
||
Fricton R,
|
||
Lee S,
|
||
Zaman A,
|
||
Saveraid HG,
|
||
Tordsen WJ,
|
||
Pullen MF,
|
||
Biros M,
|
||
Sherwood NE,
|
||
Thompson JL,
|
||
Boulware DR,
|
||
Murray TA;
|
||
COVID-OUT Trial Team</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Aug 18;387(7):599-610.
|
||
doi: 10.1056/NEJMoa2201662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36070710" target="_blank">36070710</a><a href="/pmc/articles/PMC9945922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35640743">Metformin: Is it a drug for all reasons and diseases?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Triggle CR,
|
||
Mohammed I,
|
||
Bshesh K,
|
||
Marei I,
|
||
Ye K,
|
||
Ding H,
|
||
MacDonald R,
|
||
Hollenberg MD,
|
||
Hill MA</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2022 Aug;133:155223.
|
||
Epub 2022 May 29
|
||
doi: 10.1016/j.metabol.2022.155223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35640743" target="_blank">35640743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35121209">Mid and long-term neurological and neuropsychiatric manifestations of post-COVID-19 syndrome: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Premraj L,
|
||
Kannapadi NV,
|
||
Briggs J,
|
||
Seal SM,
|
||
Battaglini D,
|
||
Fanning J,
|
||
Suen J,
|
||
Robba C,
|
||
Fraser J,
|
||
Cho SM</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2022 Mar 15;434:120162.
|
||
Epub 2022 Jan 29
|
||
doi: 10.1016/j.jns.2022.120162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35121209" target="_blank">35121209</a><a href="/pmc/articles/PMC8798975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26522198">Fraser Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleem AA,
|
||
Siddiqui SN</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2015 Oct;25 Suppl 2:S124-6.
|
||
doi: 10.2015/JCPSP.S124S126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26522198" target="_blank">26522198</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fraser%20syndrome%203%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 (173)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37931634">Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rovin BH,
|
||
Barratt J,
|
||
Heerspink HJL,
|
||
Alpers CE,
|
||
Bieler S,
|
||
Chae DW,
|
||
Diva UA,
|
||
Floege J,
|
||
Gesualdo L,
|
||
Inrig JK,
|
||
Kohan DE,
|
||
Komers R,
|
||
Kooienga LA,
|
||
Lafayette R,
|
||
Maes B,
|
||
Małecki R,
|
||
Mercer A,
|
||
Noronha IL,
|
||
Oh SW,
|
||
Peh CA,
|
||
Praga M,
|
||
Preciado P,
|
||
Radhakrishnan J,
|
||
Rheault MN,
|
||
Rote WE,
|
||
Tang SCW,
|
||
Tesar V,
|
||
Trachtman H,
|
||
Trimarchi H,
|
||
Tumlin JA,
|
||
Wong MG,
|
||
Perkovic V;
|
||
DUPRO steering committee and PROTECT Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Dec 2;402(10417):2077-2090.
|
||
Epub 2023 Nov 3
|
||
doi: 10.1016/S0140-6736(23)02302-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37931634" target="_blank">37931634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36070710">Randomized Trial of Metformin, Ivermectin, and Fluvoxamine for Covid-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bramante CT,
|
||
Huling JD,
|
||
Tignanelli CJ,
|
||
Buse JB,
|
||
Liebovitz DM,
|
||
Nicklas JM,
|
||
Cohen K,
|
||
Puskarich MA,
|
||
Belani HK,
|
||
Proper JL,
|
||
Siegel LK,
|
||
Klatt NR,
|
||
Odde DJ,
|
||
Luke DG,
|
||
Anderson B,
|
||
Karger AB,
|
||
Ingraham NE,
|
||
Hartman KM,
|
||
Rao V,
|
||
Hagen AA,
|
||
Patel B,
|
||
Fenno SL,
|
||
Avula N,
|
||
Reddy NV,
|
||
Erickson SM,
|
||
Lindberg S,
|
||
Fricton R,
|
||
Lee S,
|
||
Zaman A,
|
||
Saveraid HG,
|
||
Tordsen WJ,
|
||
Pullen MF,
|
||
Biros M,
|
||
Sherwood NE,
|
||
Thompson JL,
|
||
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Barrio-Hernandez I,
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Memon D,
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Lyu J,
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Mathy CJP,
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Perica T,
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Pilla KB,
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Saltzberg DJ,
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Rakesh R,
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Liu X,
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Rosenthal SB,
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Calviello L,
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Venkataramanan S,
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Liboy-Lugo J,
|
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Lin Y,
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Huang XP,
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Liu Y,
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Wankowicz SA,
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Bohn M,
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Safari M,
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Ugur FS,
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Koh C,
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Savar NS,
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Tran QD,
|
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Shengjuler D,
|
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Fletcher SJ,
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O'Neal MC,
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Cai Y,
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Chang JCJ,
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Broadhurst DJ,
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Klippsten S,
|
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Sharp PP,
|
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Wenzell NA,
|
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Kuzuoglu-Ozturk D,
|
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Wang HY,
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Trenker R,
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Young JM,
|
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Cavero DA,
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Hiatt J,
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Roth TL,
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Rathore U,
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Subramanian A,
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Noack J,
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Hubert M,
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Stroud RM,
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Frankel AD,
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Rosenberg OS,
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Verba KA,
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Agard DA,
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Ott M,
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Emerman M,
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Jura N,
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von Zastrow M,
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Verdin E,
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Ashworth A,
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Schwartz O,
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d'Enfert C,
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||
Mukherjee S,
|
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Jacobson M,
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Malik HS,
|
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Fujimori DG,
|
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Ideker T,
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Craik CS,
|
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Floor SN,
|
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Fraser JS,
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Gross JD,
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Sali A,
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Roth BL,
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Ruggero D,
|
||
Taunton J,
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Kortemme T,
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Beltrao P,
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Vignuzzi M,
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García-Sastre A,
|
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Shokat KM,
|
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Shoichet BK,
|
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Krogan NJ</span><br />
|
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<span class="medgenPMjournal">Nature</span>
|
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2020 Jul;583(7816):459-468.
|
||
Epub 2020 Apr 30
|
||
doi: 10.1038/s41586-020-2286-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32353859" target="_blank">32353859</a><a href="/pmc/articles/PMC7431030" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25809176">Transition from dexmedetomidine to enteral clonidine for ICU sedation: an observational pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gagnon DJ,
|
||
Riker RR,
|
||
Glisic EK,
|
||
Kelner A,
|
||
Perrey HM,
|
||
Fraser GL</span><br />
|
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<span class="medgenPMjournal">Pharmacotherapy</span>
|
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2015 Mar;35(3):251-9.
|
||
doi: 10.1002/phar.1559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25809176" target="_blank">25809176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fraser%20syndrome%203%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 (132)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37141301">Definition and surgical timing in cauda equina syndrome-An updated systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mustafa MA,
|
||
Richardson GE,
|
||
Gillespie CS,
|
||
Islim AI,
|
||
Wilby M,
|
||
Clark S,
|
||
Srikandarajah N</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2023;18(5):e0285006.
|
||
Epub 2023 May 4
|
||
doi: 10.1371/journal.pone.0285006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37141301" target="_blank">37141301</a><a href="/pmc/articles/PMC10159340" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35689118">Faintly tired: a systematic review of fatigue in patients with orthostatic syncope.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu REY,
|
||
Khan FM,
|
||
Hockin BCD,
|
||
Lobban TCA,
|
||
Sanatani S,
|
||
Claydon VE</span><br />
|
||
<span class="medgenPMjournal">Clin Auton Res</span>
|
||
2022 Jun;32(3):185-203.
|
||
Epub 2022 Jun 10
|
||
doi: 10.1007/s10286-022-00868-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35689118" target="_blank">35689118</a><a href="/pmc/articles/PMC9186485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30948292">Risks and Benefits of Chimeric Antigen Receptor T-Cell (CAR-T) Therapy in Cancer: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grigor EJM,
|
||
Fergusson D,
|
||
Kekre N,
|
||
Montroy J,
|
||
Atkins H,
|
||
Seftel MD,
|
||
Daugaard M,
|
||
Presseau J,
|
||
Thavorn K,
|
||
Hutton B,
|
||
Holt RA,
|
||
Lalu MM</span><br />
|
||
<span class="medgenPMjournal">Transfus Med Rev</span>
|
||
2019 Apr;33(2):98-110.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1016/j.tmrv.2019.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30948292" target="_blank">30948292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28914229">Clinical effectiveness and cost-effectiveness of beta-interferon and glatiramer acetate for treating multiple sclerosis: systematic review and economic evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melendez-Torres GJ,
|
||
Auguste P,
|
||
Armoiry X,
|
||
Maheswaran H,
|
||
Court R,
|
||
Madan J,
|
||
Kan A,
|
||
Lin S,
|
||
Counsell C,
|
||
Patterson J,
|
||
Rodrigues J,
|
||
Ciccarelli O,
|
||
Fraser H,
|
||
Clarke A</span><br />
|
||
<span class="medgenPMjournal">Health Technol Assess</span>
|
||
2017 Sep;21(52):1-352.
|
||
doi: 10.3310/hta21520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28914229" target="_blank">28914229</a><a href="/pmc/articles/PMC5623930" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22071816">Hydralazine for essential hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kandler MR,
|
||
Mah GT,
|
||
Tejani AM,
|
||
Stabler SN,
|
||
Salzwedel DM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2011 Nov 9;(11):CD004934.
|
||
doi: 10.1002/14651858.CD004934.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22071816" target="_blank">22071816</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fraser%20syndrome%203%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4540040%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540040%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540040%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540040%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540040%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540040%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4540040%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617667" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Fraser%20syndrome%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fraser%20syndrome%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604597" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23426[geneid]" target="_blank">View GRIP1 variations in ClinVar</a></li><li><a href="/nuccore/297374770" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=617667" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/fraser_syndrome_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Fraser%20syndrome%203" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Fraser%20syndrome%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Fraser%20syndrome%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1621907" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1621907" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4540040[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4540040[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1621907" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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