AustralieFrV1, PubMed, Corpus, bibRecord, 002563

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

Identifieur interne : 002563 ( PubMed/Corpus ); précédent : 002562; suivant : 002564

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

Auteurs : Matthew Edwards ; Sally Brescianini ; Catherine Allgood ; Michael Freelander ; Richard Dunstan ; Patrick Patradoon-Ho ; Raymond Chin ; Lucy Morgan ; Tasnuba Pervez ; Marie Legendre ; Trent Burgess ; Serge Amselem ; John Whitehall

Source :

Journal of paediatrics and child health [ 1440-1754 ] ; 2016.

RBID : pubmed:26228624

English descriptors

KwdEn :
- Child, Preschool, Ciliary Motility Disorders (diagnosis), Genetic Testing, Humans, Infant, Newborn, Male, Microarray Analysis, Polymorphism, Single Nucleotide, Syndrome.
MESH :
- diagnosis : Ciliary Motility Disorders.
- Child, Preschool, Genetic Testing, Humans, Infant, Newborn, Male, Microarray Analysis, Polymorphism, Single Nucleotide, Syndrome.

DOI: 10.1111/jpc.12981
PubMed: 26228624

Links to Exploration step

pubmed:26228624

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.</title>
<author><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name>
<affiliation><nlm:affiliation>Department of Clinical Genetics, Campbelltown Hospital, Campbelltown, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name>
<affiliation><nlm:affiliation>Department of Clinical Genetics, Campbelltown Hospital, Campbelltown, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Allgood, Catherine" sort="Allgood, Catherine" uniqKey="Allgood C" first="Catherine" last="Allgood">Catherine Allgood</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Freelander, Michael" sort="Freelander, Michael" uniqKey="Freelander M" first="Michael" last="Freelander">Michael Freelander</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Dunstan, Richard" sort="Dunstan, Richard" uniqKey="Dunstan R" first="Richard" last="Dunstan">Richard Dunstan</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Patradoon Ho, Patrick" sort="Patradoon Ho, Patrick" uniqKey="Patradoon Ho P" first="Patrick" last="Patradoon-Ho">Patrick Patradoon-Ho</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Chin, Raymond" sort="Chin, Raymond" uniqKey="Chin R" first="Raymond" last="Chin">Raymond Chin</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Morgan, Lucy" sort="Morgan, Lucy" uniqKey="Morgan L" first="Lucy" last="Morgan">Lucy Morgan</name>
<affiliation><nlm:affiliation>Department of Respiratory Medicine, Concord Hospital, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Pervez, Tasnuba" sort="Pervez, Tasnuba" uniqKey="Pervez T" first="Tasnuba" last="Pervez">Tasnuba Pervez</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name>
<affiliation><nlm:affiliation>U.F. de Génétique Moléculaire, Hôpital Armand Trousseau, Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Burgess, Trent" sort="Burgess, Trent" uniqKey="Burgess T" first="Trent" last="Burgess">Trent Burgess</name>
<affiliation><nlm:affiliation>Molecular Cytogenetics, Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<affiliation><nlm:affiliation>Service de Génétique et d'Embryologie Médicales, UMR_S933 INSERM/UPMC, Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
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<idno type="doi">10.1111/jpc.12981</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.</title>
<author><name sortKey="Edwards, Matthew" sort="Edwards, Matthew" uniqKey="Edwards M" first="Matthew" last="Edwards">Matthew Edwards</name>
<affiliation><nlm:affiliation>Department of Clinical Genetics, Campbelltown Hospital, Campbelltown, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brescianini, Sally" sort="Brescianini, Sally" uniqKey="Brescianini S" first="Sally" last="Brescianini">Sally Brescianini</name>
<affiliation><nlm:affiliation>Department of Clinical Genetics, Campbelltown Hospital, Campbelltown, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Allgood, Catherine" sort="Allgood, Catherine" uniqKey="Allgood C" first="Catherine" last="Allgood">Catherine Allgood</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Freelander, Michael" sort="Freelander, Michael" uniqKey="Freelander M" first="Michael" last="Freelander">Michael Freelander</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Dunstan, Richard" sort="Dunstan, Richard" uniqKey="Dunstan R" first="Richard" last="Dunstan">Richard Dunstan</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Patradoon Ho, Patrick" sort="Patradoon Ho, Patrick" uniqKey="Patradoon Ho P" first="Patrick" last="Patradoon-Ho">Patrick Patradoon-Ho</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Chin, Raymond" sort="Chin, Raymond" uniqKey="Chin R" first="Raymond" last="Chin">Raymond Chin</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Morgan, Lucy" sort="Morgan, Lucy" uniqKey="Morgan L" first="Lucy" last="Morgan">Lucy Morgan</name>
<affiliation><nlm:affiliation>Department of Respiratory Medicine, Concord Hospital, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Pervez, Tasnuba" sort="Pervez, Tasnuba" uniqKey="Pervez T" first="Tasnuba" last="Pervez">Tasnuba Pervez</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name>
<affiliation><nlm:affiliation>U.F. de Génétique Moléculaire, Hôpital Armand Trousseau, Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Burgess, Trent" sort="Burgess, Trent" uniqKey="Burgess T" first="Trent" last="Burgess">Trent Burgess</name>
<affiliation><nlm:affiliation>Molecular Cytogenetics, Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name>
<affiliation><nlm:affiliation>Service de Génétique et d'Embryologie Médicales, UMR_S933 INSERM/UPMC, Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Whitehall, John" sort="Whitehall, John" uniqKey="Whitehall J" first="John" last="Whitehall">John Whitehall</name>
<affiliation><nlm:affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</nlm:affiliation>
</affiliation>
</author>
</analytic>
<series><title level="j">Journal of paediatrics and child health</title>
<idno type="eISSN">1440-1754</idno>
<imprint><date when="2016" type="published">2016</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child, Preschool</term>
<term>Ciliary Motility Disorders (diagnosis)</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Microarray Analysis</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ciliary Motility Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Microarray Analysis</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Syndrome</term>
</keywords>
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</teiHeader>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26228624</PMID>
<DateCreated><Year>2016</Year>
<Month>01</Month>
<Day>18</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>11</Month>
<Day>11</Day>
</DateCompleted>
<DateRevised><Year>2016</Year>
<Month>12</Month>
<Day>30</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1440-1754</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>52</Volume>
<Issue>1</Issue>
<PubDate><Year>2016</Year>
<Month>Jan</Month>
</PubDate>
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<Title>Journal of paediatrics and child health</Title>
<ISOAbbreviation>J Paediatr Child Health</ISOAbbreviation>
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<ArticleTitle>Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.</ArticleTitle>
<Pagination><MedlinePgn>85-9</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1111/jpc.12981</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Edwards</LastName>
<ForeName>Matthew</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Genetics, Campbelltown Hospital, Campbelltown, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brescianini</LastName>
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</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Allgood</LastName>
<ForeName>Catherine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Freelander</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dunstan</LastName>
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</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Patradoon-Ho</LastName>
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<AffiliationInfo><Affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, Mount Druitt Hospital, Mount Druitt, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Chin</LastName>
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</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Morgan</LastName>
<ForeName>Lucy</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>Department of Respiratory Medicine, Concord Hospital, Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Pervez</LastName>
<ForeName>Tasnuba</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Legendre</LastName>
<ForeName>Marie</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>U.F. de Génétique Moléculaire, Hôpital Armand Trousseau, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
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<AffiliationInfo><Affiliation>Molecular Cytogenetics, Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Amselem</LastName>
<ForeName>Serge</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Service de Génétique et d'Embryologie Médicales, UMR_S933 INSERM/UPMC, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Whitehall</LastName>
<ForeName>John</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
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<Month>07</Month>
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<MeshHeadingList><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName>
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<MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName>
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<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
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<MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D046228" MajorTopicYN="Y">Microarray Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020641" MajorTopicYN="Y">Polymorphism, Single Nucleotide</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013577" MajorTopicYN="Y">Syndrome</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">developmental</Keyword>
<Keyword MajorTopicYN="N">general paediatrics</Keyword>
<Keyword MajorTopicYN="N">genetics</Keyword>
<Keyword MajorTopicYN="N">respiratory</Keyword>
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<PubmedData><History><PubMedPubDate PubStatus="accepted"><Year>2015</Year>
<Month>06</Month>
<Day>28</Day>
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<PublicationStatus>ppublish</PublicationStatus>
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<ArticleId IdType="doi">10.1111/jpc.12981</ArticleId>
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Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

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