LymphedemaV1, PubMed, Corpus, bibRecord, 004180

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Identifieur interne : 004180 ( PubMed/Corpus ); précédent : 004179; suivant : 004181

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Auteurs : A L Evans ; R. Bell ; G. Brice ; P. Comeglio ; C. Lipede ; S. Jeffery ; P. Mortimer ; M. Sarfarazi ; A H Child

Source :

Journal of medical genetics [ 1468-6244 ] ; 2003.

RBID : pubmed:12960217

English descriptors

KwdEn :
- DNA (chemistry), DNA (genetics), DNA Mutational Analysis, Family Health, Female, Genotype, Haplotypes, Humans, Lymphedema (congenital), Lymphedema (genetics), Male, Mutation, Mutation, Missense, Pedigree, Sequence Deletion, Vascular Endothelial Growth Factor Receptor-3 (genetics).
MESH :
- chemical , chemistry : DNA.
- chemical , genetics : DNA, Vascular Endothelial Growth Factor Receptor-3.
- congenital : Lymphedema.
- genetics : Lymphedema.
- DNA Mutational Analysis, Family Health, Female, Genotype, Haplotypes, Humans, Male, Mutation, Mutation, Missense, Pedigree, Sequence Deletion.

PubMed: 12960217

Links to Exploration step

pubmed:12960217

Le document en format XML

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<author><name sortKey="Evans, A L" sort="Evans, A L" uniqKey="Evans A" first="A L" last="Evans">A L Evans</name>
</author>
<author><name sortKey="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</name>
</author>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
</author>
<author><name sortKey="Comeglio, P" sort="Comeglio, P" uniqKey="Comeglio P" first="P" last="Comeglio">P. Comeglio</name>
</author>
<author><name sortKey="Lipede, C" sort="Lipede, C" uniqKey="Lipede C" first="C" last="Lipede">C. Lipede</name>
</author>
<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
</author>
<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name>
</author>
<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M" last="Sarfarazi">M. Sarfarazi</name>
</author>
<author><name sortKey="Child, A H" sort="Child, A H" uniqKey="Child A" first="A H" last="Child">A H Child</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.</title>
<author><name sortKey="Evans, A L" sort="Evans, A L" uniqKey="Evans A" first="A L" last="Evans">A L Evans</name>
</author>
<author><name sortKey="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</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="Comeglio, P" sort="Comeglio, P" uniqKey="Comeglio P" first="P" last="Comeglio">P. Comeglio</name>
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<author><name sortKey="Lipede, C" sort="Lipede, C" uniqKey="Lipede C" first="C" last="Lipede">C. Lipede</name>
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<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
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<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name>
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<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M" last="Sarfarazi">M. Sarfarazi</name>
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<author><name sortKey="Child, A H" sort="Child, A H" uniqKey="Child A" first="A H" last="Child">A H Child</name>
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<series><title level="j">Journal of medical genetics</title>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="2003" type="published">2003</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA (chemistry)</term>
<term>DNA (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>Sequence Deletion</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" 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>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genotype</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>Sequence Deletion</term>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12960217</PMID>
<DateCreated><Year>2003</Year>
<Month>09</Month>
<Day>08</Day>
</DateCreated>
<DateCompleted><Year>2003</Year>
<Month>09</Month>
<Day>30</Day>
</DateCompleted>
<DateRevised><Year>2016</Year>
<Month>10</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>40</Volume>
<Issue>9</Issue>
<PubDate><Year>2003</Year>
<Month>Sep</Month>
</PubDate>
</JournalIssue>
<Title>Journal of medical genetics</Title>
<ISOAbbreviation>J. Med. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.</ArticleTitle>
<Pagination><MedlinePgn>697-703</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Evans</LastName>
<ForeName>A L</ForeName>
<Initials>AL</Initials>
</Author>
<Author ValidYN="Y"><LastName>Bell</LastName>
<ForeName>R</ForeName>
<Initials>R</Initials>
</Author>
<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>G</ForeName>
<Initials>G</Initials>
</Author>
<Author ValidYN="Y"><LastName>Comeglio</LastName>
<ForeName>P</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lipede</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Jeffery</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
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<Author ValidYN="Y"><LastName>Mortimer</LastName>
<ForeName>P</ForeName>
<Initials>P</Initials>
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<Author ValidYN="Y"><LastName>Sarfarazi</LastName>
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<Initials>M</Initials>
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<Author ValidYN="Y"><LastName>Child</LastName>
<ForeName>A H</ForeName>
<Initials>AH</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>HL66150</GrantID>
<Acronym>HL</Acronym>
<Agency>NHLBI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
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<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
<PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType>
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<MedlineJournalInfo><Country>England</Country>
<MedlineTA>J Med Genet</MedlineTA>
<NlmUniqueID>2985087R</NlmUniqueID>
<ISSNLinking>0022-2593</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>9007-49-2</RegistryNumber>
<NameOfSubstance UI="D004247">DNA</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber>
<NameOfSubstance UI="D040321">Vascular Endothelial Growth Factor Receptor-3</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D004247" MajorTopicYN="N">DNA</DescriptorName>
<QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName>
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<MeshHeading><DescriptorName UI="D005192" MajorTopicYN="N">Family Health</DescriptorName>
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<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
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<MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000151" MajorTopicYN="N">congenital</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017384" MajorTopicYN="N">Sequence Deletion</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
<OtherID Source="NLM">PMC1735587</OtherID>
</MedlineCitation>
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<Month>9</Month>
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<PublicationStatus>ppublish</PublicationStatus>
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Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Source :

English descriptors

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