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<!--
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||
UID=863861
|
||
ConceptID=C4015424
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinal dystrophy and obesity<span class="h1sub">(RDOB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863861</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:">C4015424</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>RDOB</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="TUB - ID: 7275 - NCBI Gene" href="/gene/7275" class="medgenPMinfo">TUB</a> (11p15.4)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014522" target="_blank">MONDO:0014522</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616188" target="_blank">616188</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_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_18127"><div><strong>Obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18127</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.">C0028754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of substantial excess body fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18127">Feature record</a> | <a href="/medgen?term=%22Obesity%22%5BClinical%20Features%5D%20OR%2018127%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2473"><div><strong>Astigmatism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2473</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.">C0004106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2473">Feature record</a> | <a href="/medgen?term=%22Astigmatism%22%5BClinical%20Features%5D%20OR%202473%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19759"><div><strong>Retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19759</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.">C0035305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19759">Feature record</a> | <a href="/medgen?term=%22Retinal%20detachment%22%5BClinical%20Features%5D%20OR%2019759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208903"><div><strong>Retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208903</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.">C0854723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208903">Feature record</a> | <a href="/medgen?term=%22Retinal%20dystrophy%22%5BClinical%20Features%5D%20OR%20208903%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473480"><div><strong>Peripapillary atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473480</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.">C1719838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473480">Feature record</a> | <a href="/medgen?term=%22Peripapillary%20atrophy%22%5BClinical%20Features%5D%20OR%20473480%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333564"><div><strong>Retinal pigment epithelial atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333564</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.">C1840457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333564">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20atrophy%22%5BClinical%20Features%5D%20OR%20333564%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480605"><div><strong>Attenuation of retinal blood vessels</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480605</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.">C3278975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480605">Feature record</a> | <a href="/medgen?term=%22Attenuation%20of%20retinal%20blood%20vessels%22%5BClinical%20Features%5D%20OR%20480605%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1671040"><div><strong>Retinal dots</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1671040</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.">C4732809</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1671040">Feature record</a> | <a href="/medgen?term=%22Retinal%20dots%22%5BClinical%20Features%5D%20OR%201671040%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 the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astigmatism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attenuation of retinal blood vessels</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripapillary atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal detachment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1671040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dots</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity</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/34573333">Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Florea L,
|
||
Caba L,
|
||
Gorduza EV</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 29;12(9)
|
||
doi: 10.3390/genes12091353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573333" target="_blank">34573333</a><a href="/pmc/articles/PMC8465569" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33729075">Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aleman TS,
|
||
O'Neil EC,
|
||
O'Connor K,
|
||
Jiang YY,
|
||
Aleman IA,
|
||
Bennett J,
|
||
Morgan JIW,
|
||
Toussaint BW</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2021 Jun;42(3):252-265.
|
||
Epub 2021 Mar 17
|
||
doi: 10.1080/13816810.2021.1888132.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33729075" target="_blank">33729075</a><a href="/pmc/articles/PMC8743897" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3896611">Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cantani A,
|
||
Bellioni P,
|
||
Bamonte G,
|
||
Salvinelli F,
|
||
Bamonte MT</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1985 Oct;24(10):578-83.
|
||
doi: 10.1177/000992288502401006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3896611" target="_blank">3896611</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinal%20dystrophy%20and%20obesity)%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 (6)</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/38302651">Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomlinson JW</span><br />
|
||
<span class="medgenPMjournal">Diabetes Obes Metab</span>
|
||
2024 Apr;26 Suppl 2:13-24.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1111/dom.15480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38302651" target="_blank">38302651</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37164534">Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solarat C,
|
||
Valverde D</span><br />
|
||
<span class="medgenPMjournal">Methods Cell Biol</span>
|
||
2023;176:125-137.
|
||
Epub 2023 Jan 9
|
||
doi: 10.1016/bs.mcb.2022.12.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37164534" target="_blank">37164534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22713813">Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsythe E,
|
||
Beales PL</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Jan;21(1):8-13.
|
||
Epub 2012 Jun 20
|
||
doi: 10.1038/ejhg.2012.115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22713813" target="_blank">22713813</a><a href="/pmc/articles/PMC3522196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20949666">Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sapp JC,
|
||
Nishimura D,
|
||
Johnston JJ,
|
||
Stone EM,
|
||
Héon E,
|
||
Sheffield VC,
|
||
Biesecker LG</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Oct;12(10):623-7.
|
||
doi: 10.1097/GIM.0b013e3181f07572.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20949666" target="_blank">20949666</a><a href="/pmc/articles/PMC3115203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940554">Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Beck S,
|
||
Maffei P,
|
||
Naggert JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2007 Dec;15(12):1193-202.
|
||
Epub 2007 Oct 17
|
||
doi: 10.1038/sj.ejhg.5201933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940554" target="_blank">17940554</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%20and%20obesity%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 (53)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39340573">Diseases of the primary cilia: a clinical characteristics review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alzarka B,
|
||
Charnaya O,
|
||
Gunay-Aygun M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2025 Mar;40(3):611-627.
|
||
Epub 2024 Sep 28
|
||
doi: 10.1007/s00467-024-06528-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39340573" target="_blank">39340573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578508">Ciliopathy: Alström Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang SH,
|
||
Aycinena ARP,
|
||
Sharma T</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1085:179-180.
|
||
doi: 10.1007/978-3-319-95046-4_35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578508" target="_blank">30578508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22713813">Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsythe E,
|
||
Beales PL</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Jan;21(1):8-13.
|
||
Epub 2012 Jun 20
|
||
doi: 10.1038/ejhg.2012.115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22713813" target="_blank">22713813</a><a href="/pmc/articles/PMC3522196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940554">Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Beck S,
|
||
Maffei P,
|
||
Naggert JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2007 Dec;15(12):1193-202.
|
||
Epub 2007 Oct 17
|
||
doi: 10.1038/sj.ejhg.5201933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940554" target="_blank">17940554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12038666">Alstrom syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajan SK,
|
||
Ameen KH,
|
||
Hariharan C,
|
||
Natarajhan VS</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2002 Feb;50:278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12038666" target="_blank">12038666</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%20and%20obesity%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 (107)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28352024">Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vora KS,
|
||
Modi MP,
|
||
Butala BP,
|
||
Shah VR</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2017 Mar-Apr;28(2):384-387.
|
||
doi: 10.4103/1319-2442.202775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28352024" target="_blank">28352024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27647878">Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahola S,
|
||
Auranen M,
|
||
Isohanni P,
|
||
Niemisalo S,
|
||
Urho N,
|
||
Buzkova J,
|
||
Velagapudi V,
|
||
Lundbom N,
|
||
Hakkarainen A,
|
||
Muurinen T,
|
||
Piirilä P,
|
||
Pietiläinen KH,
|
||
Suomalainen A</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2016 Nov;8(11):1234-1247.
|
||
Epub 2016 Nov 2
|
||
doi: 10.15252/emmm.201606592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27647878" target="_blank">27647878</a><a href="/pmc/articles/PMC5090657" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26894450">Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larrañaga-Fragoso P,
|
||
Pastora N,
|
||
Bravo-Ljubetic L,
|
||
Peralta J,
|
||
Abelairas-Gómez J</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2016 Dec;37(4):427-429.
|
||
Epub 2016 Feb 19
|
||
doi: 10.3109/13816810.2015.1094493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26894450" target="_blank">26894450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20108502">Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mihai CM,
|
||
Catrinoiu D,
|
||
Marshall J,
|
||
Stoicescu R,
|
||
Tofolean IT</span><br />
|
||
<span class="medgenPMjournal">J Med Life</span>
|
||
2008 Jul-Sep;1(3):254-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20108502" target="_blank">20108502</a><a href="/pmc/articles/PMC5654309" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14520415">Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ansley SJ,
|
||
Badano JL,
|
||
Blacque OE,
|
||
Hill J,
|
||
Hoskins BE,
|
||
Leitch CC,
|
||
Kim JC,
|
||
Ross AJ,
|
||
Eichers ER,
|
||
Teslovich TM,
|
||
Mah AK,
|
||
Johnsen RC,
|
||
Cavender JC,
|
||
Lewis RA,
|
||
Leroux MR,
|
||
Beales PL,
|
||
Katsanis N</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2003 Oct 9;425(6958):628-33.
|
||
Epub 2003 Sep 21
|
||
doi: 10.1038/nature02030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14520415" target="_blank">14520415</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%20and%20obesity%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28004807">Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DA,
|
||
Perry JB,
|
||
Allen ME,
|
||
Sabbah HN,
|
||
Stauffer BL,
|
||
Shaikh SR,
|
||
Cleland JG,
|
||
Colucci WS,
|
||
Butler J,
|
||
Voors AA,
|
||
Anker SD,
|
||
Pitt B,
|
||
Pieske B,
|
||
Filippatos G,
|
||
Greene SJ,
|
||
Gheorghiade M</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2017 Apr;14(4):238-250.
|
||
Epub 2016 Dec 22
|
||
doi: 10.1038/nrcardio.2016.203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28004807" target="_blank">28004807</a><a href="/pmc/articles/PMC5350035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19858128">Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu Safieh L,
|
||
Aldahmesh MA,
|
||
Shamseldin H,
|
||
Hashem M,
|
||
Shaheen R,
|
||
Alkuraya H,
|
||
Al Hazzaa SA,
|
||
Al-Rajhi A,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2010 Apr;47(4):236-41.
|
||
Epub 2009 Oct 26
|
||
doi: 10.1136/jmg.2009.070755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19858128" target="_blank">19858128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940554">Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall JD,
|
||
Beck S,
|
||
Maffei P,
|
||
Naggert JK</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2007 Dec;15(12):1193-202.
|
||
Epub 2007 Oct 17
|
||
doi: 10.1038/sj.ejhg.5201933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940554" target="_blank">17940554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10831213">Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hrynchak PK</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2000 May;77(5):236-43.
|
||
doi: 10.1097/00006324-200005000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10831213" target="_blank">10831213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11196121">Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spaggiari E,
|
||
Salati R,
|
||
Nicolini P,
|
||
Borgatti R,
|
||
Pozzoli U,
|
||
Polenghi F</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
1999;23(2):61-7.
|
||
doi: 10.1023/a:1026560721525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11196121" target="_blank">11196121</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%20and%20obesity%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39122231">Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu H,
|
||
Wang Z,
|
||
Sa S,
|
||
Yang Y,
|
||
Zhang X,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2024 Dec 15;929:148827.
|
||
Epub 2024 Aug 8
|
||
doi: 10.1016/j.gene.2024.148827.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39122231" target="_blank">39122231</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22713813">Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsythe E,
|
||
Beales PL</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2013 Jan;21(1):8-13.
|
||
Epub 2012 Jun 20
|
||
doi: 10.1038/ejhg.2012.115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22713813" target="_blank">22713813</a><a href="/pmc/articles/PMC3522196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19858128">Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu Safieh L,
|
||
Aldahmesh MA,
|
||
Shamseldin H,
|
||
Hashem M,
|
||
Shaheen R,
|
||
Alkuraya H,
|
||
Al Hazzaa SA,
|
||
Al-Rajhi A,
|
||
Alkuraya FS</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2010 Apr;47(4):236-41.
|
||
Epub 2009 Oct 26
|
||
doi: 10.1136/jmg.2009.070755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19858128" target="_blank">19858128</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9799602">Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collin GB,
|
||
Nishina PM,
|
||
Marshall JD,
|
||
Naggert JK</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1998 Nov 1;53(3):359-64.
|
||
doi: 10.1006/geno.1998.5542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9799602" target="_blank">9799602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9126487">Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruford EA,
|
||
Riise R,
|
||
Teague PW,
|
||
Porter K,
|
||
Thomson KL,
|
||
Moore AT,
|
||
Jay M,
|
||
Warburg M,
|
||
Schinzel A,
|
||
Tommerup N,
|
||
Tornqvist K,
|
||
Rosenberg T,
|
||
Patton M,
|
||
Mansfield DC,
|
||
Wright AF</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1997 Apr 1;41(1):93-9.
|
||
doi: 10.1006/geno.1997.4613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9126487" target="_blank">9126487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20dystrophy%20and%20obesity%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 (48)</a></div></div>
|
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|
||
</div></div></div></div></div></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4015424%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
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<li><a href="/gtr/tests?term=C4015424%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
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<li><a href="/gtr/tests?term=C4015424%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4015424%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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