Age of onset in hereditary lymphedema.
Identifieur interne : 003E41 ( PubMed/Checkpoint ); précédent : 003E40; suivant : 003E42Age of onset in hereditary lymphedema.
Auteurs : Kara L. Levinson [États-Unis] ; Eleanor Feingold ; Robert E. Ferrell ; Thomas W. Glover ; Elias I. Traboulsi ; David N. FinegoldSource :
- The Journal of pediatrics [ 0022-3476 ] ; 2003.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Analyse de survie, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Humains, Lymphoedème (génétique), Lymphoedème (épidémiologie), Mâle, Protéines de liaison à l'ADN (génétique), Pénétrance, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Âge de début.
- MESH :
- génétique : Facteurs de transcription, Lymphoedème, Protéines de liaison à l'ADN, Récepteur-3 au facteur croissance endothéliale vasculaire.
- épidémiologie : Lymphoedème.
- Analyse de mutations d'ADN, Analyse de survie, Facteurs de transcription Forkhead, Femelle, Humains, Mâle, Pénétrance, Âge de début.
English descriptors
- KwdEn :
- 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
Affiliations:
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Levinson</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261</wicri:regionArea><orgName type="university">Université de Pittsburgh</orgName><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></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></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2003">2003</date><idno type="RBID">pubmed:12838201</idno><idno type="pmid">12838201</idno><idno type="doi">10.1067/mpd.2003.235</idno><idno type="wicri:Area/PubMed/Corpus">004231</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004231</idno><idno type="wicri:Area/PubMed/Curation">004231</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004231</idno><idno type="wicri:Area/PubMed/Checkpoint">004231</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004231</idno></publicationStmt><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 wicri:level="4"><nlm:affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261</wicri:regionArea><orgName type="university">Université de Pittsburgh</orgName><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></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></biblStruct></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="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Analyse de survie</term><term>Facteurs de transcription (génétique)</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (épidémiologie)</term><term>Mâle</term><term>Protéines de liaison à l'ADN (génétique)</term><term>Pénétrance</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Âge de début</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" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription</term><term>Lymphoedème</term><term>Protéines de liaison à l'ADN</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Lymphoedème</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><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Analyse de survie</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Pénétrance</term><term>Âge de début</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><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>7</Month><Day>3</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><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></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><noCountry><name sortKey="Feingold, Eleanor" sort="Feingold, Eleanor" uniqKey="Feingold E" first="Eleanor" last="Feingold">Eleanor Feingold</name><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N" last="Finegold">David N. Finegold</name><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W" last="Glover">Thomas W. Glover</name><name sortKey="Traboulsi, Elias I" sort="Traboulsi, Elias I" uniqKey="Traboulsi E" first="Elias I" last="Traboulsi">Elias I. Traboulsi</name></noCountry><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Levinson, Kara L" sort="Levinson, Kara L" uniqKey="Levinson K" first="Kara L" last="Levinson">Kara L. Levinson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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