A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.
Identifieur interne : 003753 ( PubMed/Corpus ); précédent : 003752; suivant : 003754A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.
Auteurs : S. Kumar ; C. Carver ; S. Mccall ; G. Brice ; P. Ostergaard ; P. Mortimer ; S. JefferySource :
- Clinical genetics [ 0009-9163 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Child, Preschool, Diseases in Twins (diagnosis), Diseases in Twins (genetics), Diseases in Twins (pathology), Edema (pathology), Eyelashes (abnormalities), Female, Forkhead Transcription Factors (genetics), Humans, Infant, Lymphedema (diagnosis), Lymphedema (genetics), Lymphedema (pathology), Male, Phenotype, Syndrome, Twins, Monozygotic, Varicose Veins (pathology).
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- abnormalities : Eyelashes.
- diagnosis : Diseases in Twins, Lymphedema.
- genetics : Diseases in Twins, Lymphedema.
- pathology : Diseases in Twins, Edema, Lymphedema, Varicose Veins.
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Male, Phenotype, Syndrome, Twins, Monozygotic.
DOI: 10.1111/j.1399-0004.2007.00758.x
PubMed: 17309653
Links to Exploration step
pubmed:17309653Le document en format XML
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<author><name sortKey="Kumar, S" sort="Kumar, S" uniqKey="Kumar S" first="S" last="Kumar">S. Kumar</name>
</author>
<author><name sortKey="Carver, C" sort="Carver, C" uniqKey="Carver C" first="C" last="Carver">C. Carver</name>
</author>
<author><name sortKey="Mccall, S" sort="Mccall, S" uniqKey="Mccall S" first="S" last="Mccall">S. Mccall</name>
</author>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
</author>
<author><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name>
</author>
<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name>
</author>
<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.</title>
<author><name sortKey="Kumar, S" sort="Kumar, S" uniqKey="Kumar S" first="S" last="Kumar">S. Kumar</name>
</author>
<author><name sortKey="Carver, C" sort="Carver, C" uniqKey="Carver C" first="C" last="Carver">C. Carver</name>
</author>
<author><name sortKey="Mccall, S" sort="Mccall, S" uniqKey="Mccall S" first="S" last="Mccall">S. Mccall</name>
</author>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
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<author><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name>
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<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name>
</author>
<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
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</analytic>
<series><title level="j">Clinical genetics</title>
<idno type="ISSN">0009-9163</idno>
<imprint><date when="2007" type="published">2007</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Diseases in Twins (diagnosis)</term>
<term>Diseases in Twins (genetics)</term>
<term>Diseases in Twins (pathology)</term>
<term>Edema (pathology)</term>
<term>Eyelashes (abnormalities)</term>
<term>Female</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>Humans</term>
<term>Infant</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
<term>Male</term>
<term>Phenotype</term>
<term>Syndrome</term>
<term>Twins, Monozygotic</term>
<term>Varicose Veins (pathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Diseases in Twins</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Diseases in Twins</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Diseases in Twins</term>
<term>Edema</term>
<term>Lymphedema</term>
<term>Varicose Veins</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Phenotype</term>
<term>Syndrome</term>
<term>Twins, Monozygotic</term>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17309653</PMID>
<DateCreated><Year>2007</Year>
<Month>02</Month>
<Day>20</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>06</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>02</Month>
<Day>20</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0009-9163</ISSN>
<JournalIssue CitedMedium="Print"><Volume>71</Volume>
<Issue>3</Issue>
<PubDate><Year>2007</Year>
<Month>Mar</Month>
</PubDate>
</JournalIssue>
<Title>Clinical genetics</Title>
<ISOAbbreviation>Clin. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>A family with lymphoedema-distichiasis where identical twins have a discordant phenotype.</ArticleTitle>
<Pagination><MedlinePgn>285-7</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kumar</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Carver</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>McCall</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>G</ForeName>
<Initials>G</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ostergaard</LastName>
<ForeName>P</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Mortimer</LastName>
<ForeName>P</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Jeffery</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><CollectiveName>Lymphoedema Consortium</CollectiveName>
</Author>
</AuthorList>
<Language>eng</Language>
<DataBankList CompleteYN="Y"><DataBank><DataBankName>OMIM</DataBankName>
<AccessionNumberList><AccessionNumber>153400</AccessionNumber>
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</DataBank>
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<PublicationTypeList><PublicationType UI="D016422">Letter</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
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<MedlineJournalInfo><Country>Denmark</Country>
<MedlineTA>Clin Genet</MedlineTA>
<NlmUniqueID>0253664</NlmUniqueID>
<ISSNLinking>0009-9163</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004200" MajorTopicYN="N">Diseases in Twins</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004487" MajorTopicYN="N">Edema</DescriptorName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005140" MajorTopicYN="N">Eyelashes</DescriptorName>
<QualifierName UI="Q000002" MajorTopicYN="Y">abnormalities</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D014430" MajorTopicYN="Y">Twins, Monozygotic</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D014648" MajorTopicYN="N">Varicose Veins</DescriptorName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
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