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<!DOCTYPE HTML>
<HEAD><TITLE>FinDis - Diseases</TITLE></HEAD>
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<H1><img id="titlelogo" src="img/flag_lg.png"border="0"/>HVP Country Node</H1>
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<li><a href="index.html" class="wpmenu"><b>Home</b> </a></li>
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<li><a href="genes.html" class="wpmenu"><b>Genes</b></a></li>
<li><a href="publications.html" class="wpmenu"><b>Publications</b></a></li>
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National/Ethnic Disease Database
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<!--h2><IMG src="img/fin_flag_lg.png" align="middle"/>Finnish Disease Heritage</h2-->
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<h3 style="position: relative; top: -2;left: 4;"><img src="img/pub.png" height="37px" width="37px" style="position: relative; top: -4;left: -4;">Publications</h3>
<span style="position: relative; top: -78px; left: 238px; font-size: 12px;">This page lists publications for all FinDis diseases.<br/>For disease-specific listings, click the disease name on the <a href="diseases.html">Diseases page</a>.</span>
<br/>
<span style="position: relative; top: -78px; left: 238px; font-size: 12px;">Publications last updated: <b>2012-2-01</b></span>
<comment><div id="one">
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<table class="table table-striped table-hover table-bordered" style="position: relative; top:-57px; right: 40px; width: 92%; margin-left: auto ; margin-right: auto ;">
<tbody><tr class="tableheader">
<th>Disease</th>
<th>Gene</th>
<!--th>Author</th-->
<th>Publication title</th>
<th>Journal</th>
<th>Year</th>
<th>Pubmed</th>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Syvänen et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/1559710" target="_blank">
Convenient and quantitative determination of the fr... </a></td>
<td class="journal">Genomics.</a></td>
<td class="year">1992</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/1559710" target="_blank">1559710</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Laitinen et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9137882" target="_blank">
Two novel mutations in a Canadian family with asp... </a></td>
<td class="journal">Clin Genet.</a></td>
<td class="year">1997</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9137882" target="_blank">9137882</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Yoshida et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/1756604" target="_blank">
Two Japanese cases with aspartylglycosaminuria: c... </a></td>
<td class="journal">Clin Genet.</a></td>
<td class="year">1991</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/1756604" target="_blank">1756604</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Coulter-Mackie et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/10399108" target="_blank">
A novel exonic mutation in the aspartylg... </a></td>
<td class="journal">J Inherit Metab Dis.</a></td>
<td class="year">1999</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10399108" target="_blank">10399108</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Fisher et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/8830180" target="_blank">
Single base deletion in exon 7 of the gl... </a></td>
<td class="journal">J Inherit Metab Dis.</a></td>
<td class="year">1996</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/8830180" target="_blank">8830180</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Ikonen et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/1722323" target="_blank">
Spectrum of mutations in aspartylgl... </a></td>
<td class="journal">Proc Natl Acad Sci U S A.</a></td>
<td class="year">1991</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/1722323" target="_blank">1722323</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Park et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/8457202" target="_blank">
Characterization of three alleles causing aspartyl... </a></td>
<td class="journal">Biochem J.</a></td>
<td class="year">1993</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/8457202" target="_blank">8457202</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Isoniemi et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/7627186" target="_blank">
Identification of a novel mutation causing asparty... </a></td>
<td class="journal">Hum Mutat.</a></td>
<td class="year">1995</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/7627186" target="_blank">7627186</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Jalanko et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/7795599" target="_blank">
Deletion of the C-terminal end of aspartylgluc... </a></td>
<td class="journal">Hum Mol Genet.</a></td>
<td class="year">1995</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/7795599" target="_blank">7795599</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Park et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/8830180" target="_blank">
Single base deletion in exon 7 of the gl... </a></td>
<td class="journal">J Inherit Metab Dis.</a></td>
<td class="year">1996</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/8830180" target="_blank">8830180</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Peltola et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/7881426" target="_blank">
Characterization of a point mutation in aspart... </a></td>
<td class="journal">Hum Mol Genet.</a></td>
<td class="year">1994</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/7881426" target="_blank">7881426</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Peltola et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/8776587" target="_blank">
Ser72Pro active-site disease mutation in human... </a></td>
<td class="journal">Hum Mol Genet.</a></td>
<td class="year">1996</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/8776587" target="_blank">8776587</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Saarela et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/11309371" target="_blank">
Molecular pathogenesis of a disease: structura... </a></td>
<td class="journal">Hum Mol Genet.</a></td>
<td class="year">2001</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11309371" target="_blank">11309371</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Saarela et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/15365992" target="_blank">
A novel aspartylglucosaminuria mutation affects tr... </a></td>
<td class="journal">Hum Mutat.</a></td>
<td class="year">2004</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15365992" target="_blank">15365992</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=AGU">AGU</a></td>
<td class="gene">AGA</td>
<td class="author">Ikonen et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/1703489" target="_blank">
Aspartylglucosaminuria: cDNA encoding human aspartylg... </a></td>
<td class="journal">EMBO J.</a></td>
<td class="year">1991</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/1703489" target="_blank">1703489</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9398839" target="_blank">
Positional cloning of the APECED gene. </a></td>
<td class="journal">Nat Genet.</a></td>
<td class="year">1997</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9398839" target="_blank">9398839</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9398840" target="_blank">
An autoimmune disease, APECED, caused by mutations... </a></td>
<td class="journal">Nat Genet.</a></td>
<td class="year">1997</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9398840" target="_blank">9398840</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9717837" target="_blank">
Common mutations in autoimmune polyendocrinop... </a></td>
<td class="journal">Mol Endocrinol.</a></td>
<td class="year">1998</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9717837" target="_blank">9717837</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9837820" target="_blank">
</a></td>
<td class="year"></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9837820" target="_blank">9837820</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9837820" target="_blank">
A common and recurrent 13-bp deletion in the ... </a></td>
<td class="journal">Am J Hum Genet.</a></td>
<td class="year">1998</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9837820" target="_blank">9837820</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9888391" target="_blank">
Mutation analyses of North American APS-1 patients. </a></td>
<td class="journal">Hum Mutat.</a></td>
<td class="year">1999</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9888391" target="_blank">9888391</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9921903" target="_blank">
Characterization of mutations in patients with aut... </a></td>
<td class="journal">Hum Genet.</a></td>
<td class="year">1998</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9921903" target="_blank">9921903</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/10084559" target="_blank">
Severe autoimmune polyendocrinopathy... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">1999</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10084559" target="_blank">10084559</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/10677297" target="_blank">
Mutations in the AIRE gene: effects on subcel... </a></td>
<td class="journal">Am J Hum Genet.</a></td>
<td class="year">2000</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10677297" target="_blank">10677297</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/10946904" target="_blank">
Novel mutations of the autoimmune re... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">2000</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10946904" target="_blank">10946904</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/11275943" target="_blank">
Identification of a novel mutation in the a... </a></td>
<td class="journal">Eur J Endocrinol.</a></td>
<td class="year">2001</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11275943" target="_blank">11275943</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/11343230" target="_blank">
Autoimmune regulator AIRE: evidence for genetic d... </a></td>
<td class="journal">Hepatology.</a></td>
<td class="year">2001</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11343230" target="_blank">11343230</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/11524733" target="_blank">
Novel AIRE mutations and P450 cytochrome autoantib... </a></td>
<td class="journal">Hum Mutat.</a></td>
<td class="year">2001</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11524733" target="_blank">11524733</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/11600535" target="_blank">
A novel mutation of the autoimmune r... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">2001</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11600535" target="_blank">11600535</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/11836330" target="_blank">
Delineation of the molecular defects... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">2002</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11836330" target="_blank">11836330</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/12173302" target="_blank">
Distinct clinical phenotype and immunoreactivit... </a></td>
<td class="journal">Clin Immunol.</a></td>
<td class="year">2002</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/12173302" target="_blank">12173302</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/12625412" target="_blank">
A novel missense mutation of AIRE gene in a patient... </a></td>
<td class="journal">Endocr J.</a></td>
<td class="year">2002</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/12625412" target="_blank">12625412</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/12784192" target="_blank">
A novel AIRE mutation in an APE... </a></td>
<td class="journal">Exp Clin Endocrinol Diabetes.</a></td>
<td class="year">2003</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/12784192" target="_blank">12784192</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/14557425" target="_blank">
Reversible metaphyseal dysplasia, a ... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">2003</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/14557425" target="_blank">14557425</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/15270412" target="_blank">
Novel compound heterozygous AIRE ... </a></td>
<td class="journal">J Pediatr Endocrinol Metab.</a></td>
<td class="year">2004</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15270412" target="_blank">15270412</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/15712268" target="_blank">
Two novel mutations of the AIRE protein affecting ... </a></td>
<td class="journal">Hum Mutat.</a></td>
<td class="year">2005</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15712268" target="_blank">15712268</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/15886230" target="_blank">
Autoimmune regulator-1 messenger rib... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">2005</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15886230" target="_blank">15886230</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/16965330" target="_blank">
Molecular background of polyendocrinopathy-candid... </a></td>
<td class="journal">Clin Genet.</a></td>
<td class="year">2006</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/16965330" target="_blank">16965330</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/17118990" target="_blank">
Autoimmune polyendocrine syndrome ty... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">2007</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/17118990" target="_blank">17118990</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/17891543" target="_blank">
An 8-year-old boy with autoimmune hepatitis an... </a></td>
<td class="journal">Eur J Pediatr.</a></td>
<td class="year">2008</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/17891543" target="_blank">17891543</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/18200029" target="_blank">
AIRE variations in Addison's disease and autoimm... </a></td>
<td class="journal">Genes Immun.</a></td>
<td class="year">2008</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/18200029" target="_blank">18200029</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/18274776" target="_blank">
Sicilian family with autoimmune polyendocrinop... </a></td>
<td class="journal">Eur J Pediatr.</a></td>
<td class="year">2008</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/18274776" target="_blank">18274776</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/18616706" target="_blank">
Evaluation of the autoimmune regulator... </a></td>
<td class="journal">Clin Endocrinol (Oxf).</a></td>
<td class="year">2009</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/18616706" target="_blank">18616706</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/18682433" target="_blank">
Detection of a complete autoimmune regulato... </a></td>
<td class="journal">Eur J Endocrinol.</a></td>
<td class="year">2008</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/18682433" target="_blank">18682433</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/19209622" target="_blank">
Novel homozygous AIRE mutation in... </a></td>
<td class="journal">J Pediatr Endocrinol Metab.</a></td>
<td class="year">2008</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19209622" target="_blank">19209622</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/19322061" target="_blank">
AIRE gene analysis in children ... </a></td>
<td class="journal">J Pediatr Gastroenterol Nutr.</a></td>
<td class="year">2009</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19322061" target="_blank">19322061</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/19758376" target="_blank">
Novel and recurrent mutations in the AIRE gene of... </a></td>
<td class="journal">Clin Genet.</a></td>
<td class="year">2009</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19758376" target="_blank">19758376</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/19807739" target="_blank">
Two novel AIRE mutations in autoimmune polyendocr... </a></td>
<td class="journal">Clin Genet.</a></td>
<td class="year">2009</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19807739" target="_blank">19807739</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author">Liu C. et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/20140861" target="_blank">Autoimmune regulator ge...
</a></td>
<td class="journal">Zhonghua Yi Xue Yi Chuan Xue Za Zhi</td>
<td class="year">2010</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/20140861" target="_blank">20140861</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/10634424" target="_blank">
Autoantibodies against aromatic L-am... </a></td>
<td class="journal">J Clin Endocrinol Metab.</a></td>
<td class="year">2000</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/10634424" target="_blank">10634424</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/9856486" target="_blank">
A common mutation in Sardinian autoimmune polyendo... </a></td>
<td class="journal">Hum Genet.</a></td>
<td class="year">1998</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/9856486" target="_blank">9856486</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=APECED">APECED</a></td>
<td class="gene">AIRE</td>
<td class="author"></td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/16166780" target="_blank">
Autoimmune polyendocrinopathy-candidiasis-ectoderma... </a></td>
<td class="journal">Horm Res.</a></td>
<td class="year">2005</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/16166780" target="_blank">16166780</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Bacchetta et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/19626344" target="_blank">
Autoimmune hypoparathyroidism in a 12-year-o... </a></td>
<td class="journal">Pediatr Nephrol.</a></td>
<td class="year">2009</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/19626344" target="_blank">19626344</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Bonafe et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/11940090" target="_blank">
RMRP gene sequence analysis confirms a cartilage-... </a></td>
<td class="journal">Clin Genet.</a></td>
<td class="year">2002</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11940090" target="_blank">11940090</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Bonafe et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/16244706" target="_blank">
Evolutionary comparison provides evidence for pat... </a></td>
<td class="journal">PLoS Genet.</a></td>
<td class="year">2005</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/16244706" target="_blank">16244706</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Hermanns et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/16838329" target="_blank">
RMRP mutations in cartilage-hair hypoplasia. </a></td>
<td class="journal">Am J Med Genet A.</a></td>
<td class="year">2006</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/16838329" target="_blank">16838329</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Kavadas et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/18804272" target="_blank">
Variability of clinical and laborator... </a></td>
<td class="journal">J Allergy Clin Immunol.</a></td>
<td class="year">2008</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/18804272" target="_blank">18804272</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Fuente et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21570718" target="_blank">
Reduced thymic output, cell cycle abn... </a></td>
<td class="journal">J Allergy Clin Immunol.</a></td>
<td class="year">2011</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/21570718" target="_blank">21570718</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Harada et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/15780958" target="_blank">
An effective case of growth hormone treatment on cartil... </a></td>
<td class="journal">Bone.</a></td>
<td class="year">2005</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/15780958" target="_blank">15780958</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Munoz-Robles et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/17015150" target="_blank">
A novel RMRP mutation in a Spanish patient wit... </a></td>
<td class="journal">Immunobiology.</a></td>
<td class="year">2006</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/17015150" target="_blank">17015150</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Thiel et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/17701897" target="_blank">
Type and level of RMRP functional impairment ... </a></td>
<td class="journal">Am J Hum Genet.</a></td>
<td class="year">2007</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/17701897" target="_blank">17701897</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>
<td class="author">Hirose et al.</td>
<td class="title">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/16832578" target="_blank">
Identification of novel RMRP mutations and speci... </a></td>
<td class="journal">J Hum Genet.</a></td>
<td class="year">2006</a></td>
<td class="PMID"><a href="http://www.ncbi.nlm.nih.gov/pubmed/16832578" target="_blank">16832578</a></td>
</tr>
<tr>
<td class="disease"><a href="disease.html?disease=CHH">CHH</a></td>
<td class="gene">RMRP</td>