LymphedemaV1, PubMed, Corpus, bibRecord, 004231

Age of onset in hereditary lymphedema.

Identifieur interne : 004231 ( PubMed/Corpus ); précédent : 004230; suivant : 004232

Age of onset in hereditary lymphedema.

Auteurs : Kara L. Levinson ; Eleanor Feingold ; Robert E. Ferrell ; Thomas W. Glover ; Elias I. Traboulsi ; David N. Finegold

Source :

The Journal of pediatrics [ 0022-3476 ] ; 2003.

RBID : pubmed:12838201

English descriptors

KwdEn :
- Age of Onset, DNA Mutational Analysis, DNA-Binding Proteins (genetics), Female, Forkhead Transcription Factors, Humans, Lymphedema (epidemiology), Lymphedema (genetics), Male, Penetrance, Survival Analysis, Transcription Factors (genetics), Vascular Endothelial Growth Factor Receptor-3 (genetics).
MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors, Vascular Endothelial Growth Factor Receptor-3.
- epidemiology : Lymphedema.
- genetics : Lymphedema.
- Age of Onset, DNA Mutational Analysis, Female, Forkhead Transcription Factors, Humans, Male, Penetrance, Survival Analysis.

Abstract

To characterize age of onset patterns and penetrance in hereditary lymphedema, including differences caused by sex and genetic heterogeneity.

DOI: 10.1067/mpd.2003.235
PubMed: 12838201

Links to Exploration step

pubmed:12838201

Le document en format XML

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<author><name sortKey="Levinson, Kara L" sort="Levinson, Kara L" uniqKey="Levinson K" first="Kara L" last="Levinson">Kara L. Levinson</name>
<affiliation><nlm:affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Feingold, Eleanor" sort="Feingold, Eleanor" uniqKey="Feingold E" first="Eleanor" last="Feingold">Eleanor Feingold</name>
</author>
<author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name>
</author>
<author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W" last="Glover">Thomas W. Glover</name>
</author>
<author><name sortKey="Traboulsi, Elias I" sort="Traboulsi, Elias I" uniqKey="Traboulsi E" first="Elias I" last="Traboulsi">Elias I. Traboulsi</name>
</author>
<author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. Finegold</name>
</author>
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<idno type="RBID">pubmed:12838201</idno>
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<idno type="doi">10.1067/mpd.2003.235</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Age of onset in hereditary lymphedema.</title>
<author><name sortKey="Levinson, Kara L" sort="Levinson, Kara L" uniqKey="Levinson K" first="Kara L" last="Levinson">Kara L. Levinson</name>
<affiliation><nlm:affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Feingold, Eleanor" sort="Feingold, Eleanor" uniqKey="Feingold E" first="Eleanor" last="Feingold">Eleanor Feingold</name>
</author>
<author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name>
</author>
<author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W" last="Glover">Thomas W. Glover</name>
</author>
<author><name sortKey="Traboulsi, Elias I" sort="Traboulsi, Elias I" uniqKey="Traboulsi E" first="Elias I" last="Traboulsi">Elias I. Traboulsi</name>
</author>
<author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. Finegold</name>
</author>
</analytic>
<series><title level="j">The Journal of pediatrics</title>
<idno type="ISSN">0022-3476</idno>
<imprint><date when="2003" type="published">2003</date>
</imprint>
</series>
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</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term>
<term>DNA Mutational Analysis</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Female</term>
<term>Forkhead Transcription Factors</term>
<term>Humans</term>
<term>Lymphedema (epidemiology)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Penetrance</term>
<term>Survival Analysis</term>
<term>Transcription Factors (genetics)</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term>
<term>Transcription Factors</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Forkhead Transcription Factors</term>
<term>Humans</term>
<term>Male</term>
<term>Penetrance</term>
<term>Survival Analysis</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">To characterize age of onset patterns and penetrance in hereditary lymphedema, including differences caused by sex and genetic heterogeneity.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12838201</PMID>
<DateCreated><Year>2003</Year>
<Month>07</Month>
<Day>02</Day>
</DateCreated>
<DateCompleted><Year>2003</Year>
<Month>07</Month>
<Day>29</Day>
</DateCompleted>
<DateRevised><Year>2009</Year>
<Month>11</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0022-3476</ISSN>
<JournalIssue CitedMedium="Print"><Volume>142</Volume>
<Issue>6</Issue>
<PubDate><Year>2003</Year>
<Month>Jun</Month>
</PubDate>
</JournalIssue>
<Title>The Journal of pediatrics</Title>
<ISOAbbreviation>J. Pediatr.</ISOAbbreviation>
</Journal>
<ArticleTitle>Age of onset in hereditary lymphedema.</ArticleTitle>
<Pagination><MedlinePgn>704-8</MedlinePgn>
</Pagination>
<Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To characterize age of onset patterns and penetrance in hereditary lymphedema, including differences caused by sex and genetic heterogeneity.</AbstractText>
<AbstractText Label="STUDY DESIGN" NlmCategory="METHODS">Kaplan-Meier analysis of three family cohorts with autosomal dominant lymphedema: (1) five families with unique mutations in FLT4, (2) 16 families with unique mutations in FOXC2, and (3) 77 families with no mutations yet identified in any gene (the heterogeneous group).</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Age of onset was typically congenital among FLT4 mutation families and pubertal among FOXC2 mutation families, with similar male and female penetrance in both groups. Age of onset was highly variable in the families with no identified mutation, with substantially higher penetrance among female patients than male patients. In addition, male patients and female patients in the heterogeneous group had very different overall age of onset profiles.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The two genes identified to date that cause hereditary lymphedema have equal male and female effects, but each displays a different pattern of onset age and penetrance. The heterogeneous group represents a genetically heterogeneous population and has phenotypic overlaps with the FLT4 and FOXC2 mutation families.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Levinson</LastName>
<ForeName>Kara L</ForeName>
<Initials>KL</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Feingold</LastName>
<ForeName>Eleanor</ForeName>
<Initials>E</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ferrell</LastName>
<ForeName>Robert E</ForeName>
<Initials>RE</Initials>
</Author>
<Author ValidYN="Y"><LastName>Glover</LastName>
<ForeName>Thomas W</ForeName>
<Initials>TW</Initials>
</Author>
<Author ValidYN="Y"><LastName>Traboulsi</LastName>
<ForeName>Elias I</ForeName>
<Initials>EI</Initials>
</Author>
<Author ValidYN="Y"><LastName>Finegold</LastName>
<ForeName>David N</ForeName>
<Initials>DN</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>R01 HD 37243</GrantID>
<Acronym>HD</Acronym>
<Agency>NICHD NIH HHS</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>J Pediatr</MedlineTA>
<NlmUniqueID>0375410</NlmUniqueID>
<ISSNLinking>0022-3476</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D014157">Transcription Factors</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber>
<NameOfSubstance UI="D040321">Vascular Endothelial Growth Factor Receptor-3</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>AIM</CitationSubset>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004268" MajorTopicYN="N">DNA-Binding Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D019683" MajorTopicYN="N">Penetrance</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016019" MajorTopicYN="N">Survival Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D014157" MajorTopicYN="N">Transcription Factors</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year>
<Month>7</Month>
<Day>3</Day>
<Hour>5</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2003</Year>
<Month>7</Month>
<Day>30</Day>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">12838201</ArticleId>
<ArticleId IdType="pii">S0022-3476(03)00180-X</ArticleId>
<ArticleId IdType="doi">10.1067/mpd.2003.235</ArticleId>
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</record>

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Age of onset in hereditary lymphedema.

Age of onset in hereditary lymphedema.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki