Loading…
Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
Beckwith–Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of th...
Saved in:
| Published in: | American journal of medical genetics. Part A 2008-08, Vol.146A (16), p.2126-2129 |
|---|---|
| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c3941-ca09e6dd0271e45085fd2cd03466194b0a6a39cffccd8e5445fa439aeeeaa4573 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c3941-ca09e6dd0271e45085fd2cd03466194b0a6a39cffccd8e5445fa439aeeeaa4573 |
| container_end_page | 2129 |
| container_issue | 16 |
| container_start_page | 2126 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 146A |
| creator | Descartes, Maria Romp, Robb Franklin, Judy Biggio, Joseph R. Zehnbauer, Barbara |
| description | Beckwith–Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS. © 2008 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.32421 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_69374663</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>69374663</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3941-ca09e6dd0271e45085fd2cd03466194b0a6a39cffccd8e5445fa439aeeeaa4573</originalsourceid><addsrcrecordid>eNqF0MtPAjEQBvDGaATRm2fTi54E-9zHkRAFDcaLnpuhOysl-8B2N4T_3kUI3vTUSeeXb5KPkGvORpwx8QCr8nMEIymU4Cekz7UWQ5VIeXqche6RixBWjEmm4-ic9HgSiZjppE_mk7oKjWvaxtUVFHTGU7rcrtGX2Cy3Bey-qaso0HU3Y9XQjWuW1IW622FGLfjMgaVNW9b-kpzlUAS8OrwD8vH0-D6ZDedv0-fJeD60MlV8aIGlGGUZEzFHpVmi80zYjEkVRTxVCwYRyNTmubVZglopnYOSKSAigNKxHJC7fe7a118thsaULlgsCqiwboOJUhl3WfJfKBjncVdcB-_30Po6BI-5WXtXgt8azsyuZrOr2YD5qbnjN4fcdlFi9osPvXbg9gAgWChyD5V14egE01IwEXVO7t3GFbj986gZv7xO9-e_AUWUlk8</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>20117242</pqid></control><display><type>article</type><title>Constitutional H19 hypermethylation in a patient with isolated cardiac tumor</title><source>Wiley:Jisc Collections:Wiley Read and Publish Open Access 2024-2025 (reading list)</source><creator>Descartes, Maria ; Romp, Robb ; Franklin, Judy ; Biggio, Joseph R. ; Zehnbauer, Barbara</creator><creatorcontrib>Descartes, Maria ; Romp, Robb ; Franklin, Judy ; Biggio, Joseph R. ; Zehnbauer, Barbara</creatorcontrib><description>Beckwith–Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS. © 2008 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.32421</identifier><identifier>PMID: 18627058</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Beckwith-Wiedemann Syndrome - complications ; Beckwith-Wiedemann Syndrome - genetics ; Beckwith–Wiedemann syndrome ; Biological and medical sciences ; BWS ; Cardiology. Vascular system ; Child, Preschool ; Chromosomes, Human, Pair 11 - genetics ; DNA Methylation ; Female ; Genomic Imprinting ; H19 hypermethylation ; Heart ; Heart Atria - diagnostic imaging ; Heart Neoplasms - complications ; Heart Neoplasms - diagnostic imaging ; Heart Neoplasms - genetics ; Humans ; Infant ; Infant, Newborn ; isolated cardiac tumor ; Medical genetics ; Medical sciences ; Phenotype ; Pregnancy ; Prenatal Diagnosis ; Tumors of the heart ; Ultrasonography, Prenatal</subject><ispartof>American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2126-2129</ispartof><rights>Copyright © 2008 Wiley‐Liss, Inc.</rights><rights>2008 INIST-CNRS</rights><rights>Copyright 2008 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3941-ca09e6dd0271e45085fd2cd03466194b0a6a39cffccd8e5445fa439aeeeaa4573</citedby><cites>FETCH-LOGICAL-c3941-ca09e6dd0271e45085fd2cd03466194b0a6a39cffccd8e5445fa439aeeeaa4573</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20532026$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18627058$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Descartes, Maria</creatorcontrib><creatorcontrib>Romp, Robb</creatorcontrib><creatorcontrib>Franklin, Judy</creatorcontrib><creatorcontrib>Biggio, Joseph R.</creatorcontrib><creatorcontrib>Zehnbauer, Barbara</creatorcontrib><title>Constitutional H19 hypermethylation in a patient with isolated cardiac tumor</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>Beckwith–Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS. © 2008 Wiley‐Liss, Inc.</description><subject>Beckwith-Wiedemann Syndrome - complications</subject><subject>Beckwith-Wiedemann Syndrome - genetics</subject><subject>Beckwith–Wiedemann syndrome</subject><subject>Biological and medical sciences</subject><subject>BWS</subject><subject>Cardiology. Vascular system</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>DNA Methylation</subject><subject>Female</subject><subject>Genomic Imprinting</subject><subject>H19 hypermethylation</subject><subject>Heart</subject><subject>Heart Atria - diagnostic imaging</subject><subject>Heart Neoplasms - complications</subject><subject>Heart Neoplasms - diagnostic imaging</subject><subject>Heart Neoplasms - genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>isolated cardiac tumor</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Phenotype</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Tumors of the heart</subject><subject>Ultrasonography, Prenatal</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><recordid>eNqF0MtPAjEQBvDGaATRm2fTi54E-9zHkRAFDcaLnpuhOysl-8B2N4T_3kUI3vTUSeeXb5KPkGvORpwx8QCr8nMEIymU4Cekz7UWQ5VIeXqche6RixBWjEmm4-ic9HgSiZjppE_mk7oKjWvaxtUVFHTGU7rcrtGX2Cy3Bey-qaso0HU3Y9XQjWuW1IW622FGLfjMgaVNW9b-kpzlUAS8OrwD8vH0-D6ZDedv0-fJeD60MlV8aIGlGGUZEzFHpVmi80zYjEkVRTxVCwYRyNTmubVZglopnYOSKSAigNKxHJC7fe7a118thsaULlgsCqiwboOJUhl3WfJfKBjncVdcB-_30Po6BI-5WXtXgt8azsyuZrOr2YD5qbnjN4fcdlFi9osPvXbg9gAgWChyD5V14egE01IwEXVO7t3GFbj986gZv7xO9-e_AUWUlk8</recordid><startdate>20080815</startdate><enddate>20080815</enddate><creator>Descartes, Maria</creator><creator>Romp, Robb</creator><creator>Franklin, Judy</creator><creator>Biggio, Joseph R.</creator><creator>Zehnbauer, Barbara</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20080815</creationdate><title>Constitutional H19 hypermethylation in a patient with isolated cardiac tumor</title><author>Descartes, Maria ; Romp, Robb ; Franklin, Judy ; Biggio, Joseph R. ; Zehnbauer, Barbara</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3941-ca09e6dd0271e45085fd2cd03466194b0a6a39cffccd8e5445fa439aeeeaa4573</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Beckwith-Wiedemann Syndrome - complications</topic><topic>Beckwith-Wiedemann Syndrome - genetics</topic><topic>Beckwith–Wiedemann syndrome</topic><topic>Biological and medical sciences</topic><topic>BWS</topic><topic>Cardiology. Vascular system</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>DNA Methylation</topic><topic>Female</topic><topic>Genomic Imprinting</topic><topic>H19 hypermethylation</topic><topic>Heart</topic><topic>Heart Atria - diagnostic imaging</topic><topic>Heart Neoplasms - complications</topic><topic>Heart Neoplasms - diagnostic imaging</topic><topic>Heart Neoplasms - genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>isolated cardiac tumor</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Phenotype</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Tumors of the heart</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Descartes, Maria</creatorcontrib><creatorcontrib>Romp, Robb</creatorcontrib><creatorcontrib>Franklin, Judy</creatorcontrib><creatorcontrib>Biggio, Joseph R.</creatorcontrib><creatorcontrib>Zehnbauer, Barbara</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Descartes, Maria</au><au>Romp, Robb</au><au>Franklin, Judy</au><au>Biggio, Joseph R.</au><au>Zehnbauer, Barbara</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Constitutional H19 hypermethylation in a patient with isolated cardiac tumor</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2008-08-15</date><risdate>2008</risdate><volume>146A</volume><issue>16</issue><spage>2126</spage><epage>2129</epage><pages>2126-2129</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Beckwith–Wiedemann syndrome (BWS) is clinically and molecularly very heterogenous. Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS. © 2008 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>18627058</pmid><doi>10.1002/ajmg.a.32421</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2126-2129 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69374663 |
| source | Wiley:Jisc Collections:Wiley Read and Publish Open Access 2024-2025 (reading list) |
| subjects | Beckwith-Wiedemann Syndrome - complications Beckwith-Wiedemann Syndrome - genetics Beckwith–Wiedemann syndrome Biological and medical sciences BWS Cardiology. Vascular system Child, Preschool Chromosomes, Human, Pair 11 - genetics DNA Methylation Female Genomic Imprinting H19 hypermethylation Heart Heart Atria - diagnostic imaging Heart Neoplasms - complications Heart Neoplasms - diagnostic imaging Heart Neoplasms - genetics Humans Infant Infant, Newborn isolated cardiac tumor Medical genetics Medical sciences Phenotype Pregnancy Prenatal Diagnosis Tumors of the heart Ultrasonography, Prenatal |
| title | Constitutional H19 hypermethylation in a patient with isolated cardiac tumor |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-29T20%3A18%3A51IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Constitutional%20H19%20hypermethylation%20in%20a%20patient%20with%20isolated%20cardiac%20tumor&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Descartes,%20Maria&rft.date=2008-08-15&rft.volume=146A&rft.issue=16&rft.spage=2126&rft.epage=2129&rft.pages=2126-2129&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.32421&rft_dat=%3Cproquest_cross%3E69374663%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c3941-ca09e6dd0271e45085fd2cd03466194b0a6a39cffccd8e5445fa439aeeeaa4573%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=20117242&rft_id=info:pmid/18627058&rfr_iscdi=true |