Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
Identifieur interne : 007C27 ( Main/Exploration ); précédent : 007C26; suivant : 007C28Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
Auteurs : Barbara D'Haene [Belgique] ; Catia Attanasio [Suisse] ; Diane Beysen [Belgique] ; Josée Dostie [États-Unis] ; Edmond Lemire [Canada] ; Philippe Bouchard [France] ; Michael Field [Australie] ; Kristie Jones [Australie] ; Birgit Lorenz [Allemagne] ; Björn Menten [Belgique] ; Karen Buysse [Belgique] ; Filip Pattyn [Belgique] ; Marc Friedli [Suisse] ; Catherine Ucla [Suisse] ; Colette Rossier [Suisse] ; Carine Wyss [Suisse] ; Frank Speleman [Belgique] ; Anne De Paepe [Belgique] ; Job Dekker [États-Unis] ; Stylianos E. Antonarakis [Suisse] ; Elfride De Baere [Belgique]Source :
- PLoS Genetics [ 1553-7390 ] ; 2009.
Abstract
To date, the contribution of disrupted potentially
Url:
DOI: 10.1371/journal.pgen.1000522
PubMed: 19543368
PubMed Central: 2689649
Affiliations:
- Allemagne, Australie, Belgique, Canada, France, Suisse, États-Unis
- Massachusetts, Nouvelle-Galles du Sud, Île-de-France
- Paris, Sydney
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002871
- to stream Pmc, to step Curation: 002721
- to stream Pmc, to step Checkpoint: 002823
- to stream Ncbi, to step Merge: 000603
- to stream Ncbi, to step Curation: 000603
- to stream Ncbi, to step Checkpoint: 000603
- to stream Main, to step Merge: 008303
- to stream Main, to step Curation: 007C27
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Disease-Causing 7.4 kb <italic>Cis</italic>-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the <italic>FOXL2</italic> Promotor: Implications for Mutation Screening</title><author><name sortKey="D Haene, Barbara" sort="D Haene, Barbara" uniqKey="D Haene B" first="Barbara" last="D'Haene">Barbara D'Haene</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Attanasio, Catia" sort="Attanasio, Catia" uniqKey="Attanasio C" first="Catia" last="Attanasio">Catia Attanasio</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Beysen, Diane" sort="Beysen, Diane" uniqKey="Beysen D" first="Diane" last="Beysen">Diane Beysen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Dostie, Josee" sort="Dostie, Josee" uniqKey="Dostie J" first="Josée" last="Dostie">Josée Dostie</name><affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Lemire, Edmond" sort="Lemire, Edmond" uniqKey="Lemire E" first="Edmond" last="Lemire">Edmond Lemire</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Bouchard, Philippe" sort="Bouchard, Philippe" uniqKey="Bouchard P" first="Philippe" last="Bouchard">Philippe Bouchard</name><affiliation wicri:level="3"><nlm:aff id="aff5"><addr-line>Reproductive Endocrine Unit, Hôpital Saint-Antoine, Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Reproductive Endocrine Unit, Hôpital Saint-Antoine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation wicri:level="3"><nlm:aff id="aff6"><addr-line>Royal North Shore Hospital, Sydney, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Royal North Shore Hospital, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Jones, Kristie" sort="Jones, Kristie" uniqKey="Jones K" first="Kristie" last="Jones">Kristie Jones</name><affiliation wicri:level="1"><nlm:aff id="aff7"><addr-line>Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead</wicri:regionArea><wicri:noRegion>Westmead</wicri:noRegion></affiliation></author><author><name sortKey="Lorenz, Birgit" sort="Lorenz, Birgit" uniqKey="Lorenz B" first="Birgit" last="Lorenz">Birgit Lorenz</name><affiliation wicri:level="1"><nlm:aff id="aff8"><addr-line>Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen und Marburg GmbH Giessen Campus, Giessen, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen und Marburg GmbH Giessen Campus, Giessen</wicri:regionArea><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Menten, Bjorn" sort="Menten, Bjorn" uniqKey="Menten B" first="Björn" last="Menten">Björn Menten</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Buysse, Karen" sort="Buysse, Karen" uniqKey="Buysse K" first="Karen" last="Buysse">Karen Buysse</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Pattyn, Filip" sort="Pattyn, Filip" uniqKey="Pattyn F" first="Filip" last="Pattyn">Filip Pattyn</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Friedli, Marc" sort="Friedli, Marc" uniqKey="Friedli M" first="Marc" last="Friedli">Marc Friedli</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Ucla, Catherine" sort="Ucla, Catherine" uniqKey="Ucla C" first="Catherine" last="Ucla">Catherine Ucla</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Rossier, Colette" sort="Rossier, Colette" uniqKey="Rossier C" first="Colette" last="Rossier">Colette Rossier</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Wyss, Carine" sort="Wyss, Carine" uniqKey="Wyss C" first="Carine" last="Wyss">Carine Wyss</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Speleman, Frank" sort="Speleman, Frank" uniqKey="Speleman F" first="Frank" last="Speleman">Frank Speleman</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Dekker, Job" sort="Dekker, Job" uniqKey="Dekker J" first="Job" last="Dekker">Job Dekker</name><affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Antonarakis, Stylianos E" sort="Antonarakis, Stylianos E" uniqKey="Antonarakis S" first="Stylianos E." last="Antonarakis">Stylianos E. Antonarakis</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="De Baere, Elfride" sort="De Baere, Elfride" uniqKey="De Baere E" first="Elfride" last="De Baere">Elfride De Baere</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19543368</idno><idno type="pmc">2689649</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689649</idno><idno type="RBID">PMC:2689649</idno><idno type="doi">10.1371/journal.pgen.1000522</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">002871</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002871</idno><idno type="wicri:Area/Pmc/Curation">002721</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002721</idno><idno type="wicri:Area/Pmc/Checkpoint">002823</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002823</idno><idno type="wicri:Area/Ncbi/Merge">000603</idno><idno type="wicri:Area/Ncbi/Curation">000603</idno><idno type="wicri:Area/Ncbi/Checkpoint">000603</idno><idno type="wicri:doubleKey">1553-7390:2009:D Haene B:disease:causing:kb</idno><idno type="wicri:Area/Main/Merge">008303</idno><idno type="wicri:Area/Main/Curation">007C27</idno><idno type="wicri:Area/Main/Exploration">007C27</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Disease-Causing 7.4 kb <italic>Cis</italic>-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the <italic>FOXL2</italic> Promotor: Implications for Mutation Screening</title><author><name sortKey="D Haene, Barbara" sort="D Haene, Barbara" uniqKey="D Haene B" first="Barbara" last="D'Haene">Barbara D'Haene</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Attanasio, Catia" sort="Attanasio, Catia" uniqKey="Attanasio C" first="Catia" last="Attanasio">Catia Attanasio</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Beysen, Diane" sort="Beysen, Diane" uniqKey="Beysen D" first="Diane" last="Beysen">Diane Beysen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Dostie, Josee" sort="Dostie, Josee" uniqKey="Dostie J" first="Josée" last="Dostie">Josée Dostie</name><affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Lemire, Edmond" sort="Lemire, Edmond" uniqKey="Lemire E" first="Edmond" last="Lemire">Edmond Lemire</name><affiliation wicri:level="1"><nlm:aff id="aff4"><addr-line>Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Medical Genetics, Royal University Hospital, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Bouchard, Philippe" sort="Bouchard, Philippe" uniqKey="Bouchard P" first="Philippe" last="Bouchard">Philippe Bouchard</name><affiliation wicri:level="3"><nlm:aff id="aff5"><addr-line>Reproductive Endocrine Unit, Hôpital Saint-Antoine, Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Reproductive Endocrine Unit, Hôpital Saint-Antoine, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation wicri:level="3"><nlm:aff id="aff6"><addr-line>Royal North Shore Hospital, Sydney, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Royal North Shore Hospital, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Jones, Kristie" sort="Jones, Kristie" uniqKey="Jones K" first="Kristie" last="Jones">Kristie Jones</name><affiliation wicri:level="1"><nlm:aff id="aff7"><addr-line>Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead</wicri:regionArea><wicri:noRegion>Westmead</wicri:noRegion></affiliation></author><author><name sortKey="Lorenz, Birgit" sort="Lorenz, Birgit" uniqKey="Lorenz B" first="Birgit" last="Lorenz">Birgit Lorenz</name><affiliation wicri:level="1"><nlm:aff id="aff8"><addr-line>Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen und Marburg GmbH Giessen Campus, Giessen, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen und Marburg GmbH Giessen Campus, Giessen</wicri:regionArea><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Menten, Bjorn" sort="Menten, Bjorn" uniqKey="Menten B" first="Björn" last="Menten">Björn Menten</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Buysse, Karen" sort="Buysse, Karen" uniqKey="Buysse K" first="Karen" last="Buysse">Karen Buysse</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Pattyn, Filip" sort="Pattyn, Filip" uniqKey="Pattyn F" first="Filip" last="Pattyn">Filip Pattyn</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Friedli, Marc" sort="Friedli, Marc" uniqKey="Friedli M" first="Marc" last="Friedli">Marc Friedli</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Ucla, Catherine" sort="Ucla, Catherine" uniqKey="Ucla C" first="Catherine" last="Ucla">Catherine Ucla</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Rossier, Colette" sort="Rossier, Colette" uniqKey="Rossier C" first="Colette" last="Rossier">Colette Rossier</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Wyss, Carine" sort="Wyss, Carine" uniqKey="Wyss C" first="Carine" last="Wyss">Carine Wyss</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Speleman, Frank" sort="Speleman, Frank" uniqKey="Speleman F" first="Frank" last="Speleman">Frank Speleman</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Dekker, Job" sort="Dekker, Job" uniqKey="Dekker J" first="Job" last="Dekker">Job Dekker</name><affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Program in Gene Function and Expression and Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Antonarakis, Stylianos E" sort="Antonarakis, Stylianos E" uniqKey="Antonarakis S" first="Stylianos E." last="Antonarakis">Stylianos E. Antonarakis</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland</addr-line></nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="De Baere, Elfride" sort="De Baere, Elfride" uniqKey="De Baere E" first="Elfride" last="De Baere">Elfride De Baere</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</addr-line></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author></analytic><series><title level="j">PLoS Genetics</title><idno type="ISSN">1553-7390</idno><idno type="eISSN">1553-7404</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>To date, the contribution of disrupted potentially <italic>cis</italic>-regulatory conserved non-coding sequences (CNCs) to human disease is most likely underestimated, as no systematic screens for putative deleterious variations in CNCs have been conducted. As a model for monogenic disease we studied the involvement of genetic changes of CNCs in the <italic>cis</italic>-regulatory domain of <italic>FOXL2</italic> in blepharophimosis syndrome (BPES). Fifty-seven molecularly unsolved BPES patients underwent high-resolution copy number screening and targeted sequencing of CNCs. Apart from three larger distant deletions, a <italic>de novo</italic> deletion as small as 7.4 kb was found at 283 kb 5′ to <italic>FOXL2</italic>. The deletion appeared to be triggered by an H-DNA-induced double-stranded break (DSB). In addition, it disrupts a novel long non-coding RNA (ncRNA) <italic>PISRT1</italic> and 8 CNCs. The regulatory potential of the deleted CNCs was substantiated by <italic>in vitro</italic> luciferase assays. Interestingly, Chromosome Conformation Capture (3C) of a 625 kb region surrounding <italic>FOXL2</italic> in expressing cellular systems revealed physical interactions of three upstream fragments and the <italic>FOXL2</italic> core promoter. Importantly, one of these contains the 7.4 kb deleted fragment. Overall, this study revealed the smallest distant deletion causing monogenic disease and impacts upon the concept of mutation screening in human disease and developmental disorders in particular.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Birney, E" uniqKey="Birney E">E Birney</name></author><author><name sortKey="Stamatoyannopoulos, Ja" uniqKey="Stamatoyannopoulos J">JA Stamatoyannopoulos</name></author><author><name sortKey="Dutta, A" uniqKey="Dutta A">A Dutta</name></author><author><name sortKey="Guigo, R" uniqKey="Guigo R">R Guigo</name></author><author><name sortKey="Gingeras, Tr" uniqKey="Gingeras T">TR Gingeras</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dermitzakis, Et" uniqKey="Dermitzakis E">ET Dermitzakis</name></author><author><name sortKey="Reymond, A" uniqKey="Reymond A">A Reymond</name></author><author><name sortKey="Antonarakis, Se" uniqKey="Antonarakis S">SE Antonarakis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dermitzakis, Et" uniqKey="Dermitzakis E">ET Dermitzakis</name></author><author><name sortKey="Reymond, A" uniqKey="Reymond A">A Reymond</name></author><author><name sortKey="Lyle, R" uniqKey="Lyle R">R Lyle</name></author><author><name sortKey="Scamuffa, N" uniqKey="Scamuffa N">N Scamuffa</name></author><author><name sortKey="Ucla, C" uniqKey="Ucla C">C Ucla</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dermitzakis, Et" uniqKey="Dermitzakis E">ET Dermitzakis</name></author><author><name sortKey="Reymond, A" uniqKey="Reymond A">A Reymond</name></author><author><name sortKey="Scamuffa, N" uniqKey="Scamuffa N">N Scamuffa</name></author><author><name sortKey="Ucla, C" uniqKey="Ucla C">C Ucla</name></author><author><name sortKey="Kirkness, E" uniqKey="Kirkness E">E Kirkness</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pennacchio, La" uniqKey="Pennacchio L">LA Pennacchio</name></author><author><name sortKey="Ahituv, N" uniqKey="Ahituv N">N Ahituv</name></author><author><name sortKey="Moses, Am" uniqKey="Moses A">AM Moses</name></author><author><name sortKey="Prabhakar, S" uniqKey="Prabhakar S">S Prabhakar</name></author><author><name sortKey="Nobrega, Ma" uniqKey="Nobrega M">MA Nobrega</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Woolfe, A" uniqKey="Woolfe A">A Woolfe</name></author><author><name sortKey="Goodson, M" uniqKey="Goodson M">M Goodson</name></author><author><name sortKey="Goode, Dk" uniqKey="Goode D">DK Goode</name></author><author><name sortKey="Snell, P" uniqKey="Snell P">P Snell</name></author><author><name sortKey="Mcewen, Gk" uniqKey="Mcewen G">GK McEwen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nobrega, Ma" uniqKey="Nobrega M">MA Nobrega</name></author><author><name sortKey="Ovcharenko, I" uniqKey="Ovcharenko I">I Ovcharenko</name></author><author><name sortKey="Afzal, V" uniqKey="Afzal V">V Afzal</name></author><author><name sortKey="Rubin, Em" uniqKey="Rubin E">EM Rubin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crisponi, L" uniqKey="Crisponi L">L Crisponi</name></author><author><name sortKey="Deiana, M" uniqKey="Deiana M">M Deiana</name></author><author><name sortKey="Loi, A" uniqKey="Loi A">A Loi</name></author><author><name sortKey="Chiappe, F" uniqKey="Chiappe F">F Chiappe</name></author><author><name sortKey="Uda, M" uniqKey="Uda M">M Uda</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beysen, D" uniqKey="Beysen D">D Beysen</name></author><author><name sortKey="De Paepe, A" uniqKey="De Paepe A">A De Paepe</name></author><author><name sortKey="De Baere, E" uniqKey="De Baere E">E De Baere</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beysen, D" uniqKey="Beysen D">D Beysen</name></author><author><name sortKey="Raes, J" uniqKey="Raes J">J Raes</name></author><author><name sortKey="Leroy, Bp" uniqKey="Leroy B">BP Leroy</name></author><author><name sortKey="Lucassen, A" uniqKey="Lucassen A">A Lucassen</name></author><author><name sortKey="Yates, Jrw" uniqKey="Yates J">JRW Yates</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Baere, E" uniqKey="De Baere E">E De Baere</name></author><author><name sortKey="Fukushima, Y" uniqKey="Fukushima Y">Y Fukushima</name></author><author><name sortKey="Small, K" uniqKey="Small K">K Small</name></author><author><name sortKey="Udar, N" uniqKey="Udar N">N Udar</name></author><author><name sortKey="Van Camp, G" uniqKey="Van Camp G">G Van Camp</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Praphanphoj, V" uniqKey="Praphanphoj V">V Praphanphoj</name></author><author><name sortKey="Goodman, Bk" uniqKey="Goodman B">BK Goodman</name></author><author><name sortKey="Thomas, Gh" uniqKey="Thomas G">GH Thomas</name></author><author><name sortKey="Niel, Km" uniqKey="Niel K">KM Niel</name></author><author><name sortKey="Toomes, C" uniqKey="Toomes C">C Toomes</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nikic, S" uniqKey="Nikic S">S Nikic</name></author><author><name sortKey="Vaiman, D" uniqKey="Vaiman D">D Vaiman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pailhoux, E" uniqKey="Pailhoux E">E Pailhoux</name></author><author><name sortKey="Vigier, B" uniqKey="Vigier B">B Vigier</name></author><author><name sortKey="Chaffaux, S" uniqKey="Chaffaux S">S Chaffaux</name></author><author><name sortKey="Servel, N" uniqKey="Servel N">N Servel</name></author><author><name sortKey="Taourit, S" uniqKey="Taourit S">S Taourit</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pannetier, M" uniqKey="Pannetier M">M Pannetier</name></author><author><name sortKey="Renault, L" uniqKey="Renault L">L Renault</name></author><author><name sortKey="Jolivet, G" uniqKey="Jolivet G">G Jolivet</name></author><author><name sortKey="Cotinot, C" uniqKey="Cotinot C">C Cotinot</name></author><author><name sortKey="Pailhoux, E" uniqKey="Pailhoux E">E Pailhoux</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kleinjan, Da" uniqKey="Kleinjan D">DA Kleinjan</name></author><author><name sortKey="Van Heyningen, V" uniqKey="Van Heyningen V">V van Heyningen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Benito Sanz, S" uniqKey="Benito Sanz S">S Benito-Sanz</name></author><author><name sortKey="Thomas, Ns" uniqKey="Thomas N">NS Thomas</name></author><author><name sortKey="Huber, C" uniqKey="Huber C">C Huber</name></author><author><name sortKey="Gorbenko Del Blanco, D" uniqKey="Gorbenko Del Blanco D">D Gorbenko del Blanco</name></author><author><name sortKey="Aza Carmona, M" uniqKey="Aza Carmona M">M Aza-Carmona</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lettice, La" uniqKey="Lettice L">LA Lettice</name></author><author><name sortKey="Hill, Ae" uniqKey="Hill A">AE Hill</name></author><author><name sortKey="Devenney, Ps" uniqKey="Devenney P">PS Devenney</name></author><author><name sortKey="Hill, Re" uniqKey="Hill R">RE Hill</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Benko, S" uniqKey="Benko S">S Benko</name></author><author><name sortKey="Fantes, Ja" uniqKey="Fantes J">JA Fantes</name></author><author><name sortKey="Amiel, J" uniqKey="Amiel J">J Amiel</name></author><author><name sortKey="Kleinjan, Dj" uniqKey="Kleinjan D">DJ Kleinjan</name></author><author><name sortKey="Thomas, S" uniqKey="Thomas S">S Thomas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lettice, La" uniqKey="Lettice L">LA Lettice</name></author><author><name sortKey="Heaney, Sj" uniqKey="Heaney S">SJ Heaney</name></author><author><name sortKey="Purdie, La" uniqKey="Purdie L">LA Purdie</name></author><author><name sortKey="Li, L" uniqKey="Li L">L Li</name></author><author><name sortKey="De Beer, P" uniqKey="De Beer P">P de Beer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Furniss, D" uniqKey="Furniss D">D Furniss</name></author><author><name sortKey="Lettice, La" uniqKey="Lettice L">LA Lettice</name></author><author><name sortKey="Taylor, Ib" uniqKey="Taylor I">IB Taylor</name></author><author><name sortKey="Critchley, Ps" uniqKey="Critchley P">PS Critchley</name></author><author><name sortKey="Giele, H" uniqKey="Giele H">H Giele</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sun, M" uniqKey="Sun M">M Sun</name></author><author><name sortKey="Ma, F" uniqKey="Ma F">F Ma</name></author><author><name sortKey="Zeng, X" uniqKey="Zeng X">X Zeng</name></author><author><name sortKey="Liu, Q" uniqKey="Liu Q">Q Liu</name></author><author><name sortKey="Zhao, Xl" uniqKey="Zhao X">XL Zhao</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Klopocki, E" uniqKey="Klopocki E">E Klopocki</name></author><author><name sortKey="Ott, Ce" uniqKey="Ott C">CE Ott</name></author><author><name sortKey="Benatar, N" uniqKey="Benatar N">N Benatar</name></author><author><name sortKey="Ullmann, R" uniqKey="Ullmann R">R Ullmann</name></author><author><name sortKey="Mundlos, S" uniqKey="Mundlos S">S Mundlos</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gu, W" uniqKey="Gu W">W Gu</name></author><author><name sortKey="Zhang, F" uniqKey="Zhang F">F Zhang</name></author><author><name sortKey="Lupski, Jr" uniqKey="Lupski J">JR Lupski</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Smith, Gr" uniqKey="Smith G">GR Smith</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, G" uniqKey="Wang G">G Wang</name></author><author><name sortKey="Vasquez, Km" uniqKey="Vasquez K">KM Vasquez</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wells, Rd" uniqKey="Wells R">RD Wells</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lobachev, Ks" uniqKey="Lobachev K">KS Lobachev</name></author><author><name sortKey="Rattray, A" uniqKey="Rattray A">A Rattray</name></author><author><name sortKey="Narayanan, V" uniqKey="Narayanan V">V Narayanan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rahimov, F" uniqKey="Rahimov F">F Rahimov</name></author><author><name sortKey="Marazita, Ml" uniqKey="Marazita M">ML Marazita</name></author><author><name sortKey="Visel, A" uniqKey="Visel A">A Visel</name></author><author><name sortKey="Cooper, Me" uniqKey="Cooper M">ME Cooper</name></author><author><name sortKey="Hitchler, Mj" uniqKey="Hitchler M">MJ Hitchler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jeong, Y" uniqKey="Jeong Y">Y Jeong</name></author><author><name sortKey="Leskow, Fc" uniqKey="Leskow F">FC Leskow</name></author><author><name sortKey="El Jaick, K" uniqKey="El Jaick K">K El-Jaick</name></author><author><name sortKey="Roessler, E" uniqKey="Roessler E">E Roessler</name></author><author><name sortKey="Muenke, M" uniqKey="Muenke M">M Muenke</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Attanasio, C" uniqKey="Attanasio C">C Attanasio</name></author><author><name sortKey="Reymond, A" uniqKey="Reymond A">A Reymond</name></author><author><name sortKey="Humbert, R" uniqKey="Humbert R">R Humbert</name></author><author><name sortKey="Lyle, R" uniqKey="Lyle R">R Lyle</name></author><author><name sortKey="Kuehn, Ms" uniqKey="Kuehn M">MS Kuehn</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dekker, J" uniqKey="Dekker J">J Dekker</name></author><author><name sortKey="Rippe, K" uniqKey="Rippe K">K Rippe</name></author><author><name sortKey="Dekker, M" uniqKey="Dekker M">M Dekker</name></author><author><name sortKey="Kleckner, N" uniqKey="Kleckner N">N Kleckner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Poulin, F" uniqKey="Poulin F">F Poulin</name></author><author><name sortKey="Nobrega, Ma" uniqKey="Nobrega M">MA Nobrega</name></author><author><name sortKey="Plajzer Frick, I" uniqKey="Plajzer Frick I">I Plajzer-Frick</name></author><author><name sortKey="Holt, A" uniqKey="Holt A">A Holt</name></author><author><name sortKey="Afzal, V" uniqKey="Afzal V">V Afzal</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Roessler, E" uniqKey="Roessler E">E Roessler</name></author><author><name sortKey="Belloni, E" uniqKey="Belloni E">E Belloni</name></author><author><name sortKey="Gaudenz, K" uniqKey="Gaudenz K">K Gaudenz</name></author><author><name sortKey="Jay, P" uniqKey="Jay P">P Jay</name></author><author><name sortKey="Berta, P" uniqKey="Berta P">P Berta</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Qian, X" uniqKey="Qian X">X Qian</name></author><author><name sortKey="Shu, A" uniqKey="Shu A">A Shu</name></author><author><name sortKey="Qin, W" uniqKey="Qin W">W Qin</name></author><author><name sortKey="Xing, Q" uniqKey="Xing Q">Q Xing</name></author><author><name sortKey="Gao, J" uniqKey="Gao J">J Gao</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bennett, Cl" uniqKey="Bennett C">CL Bennett</name></author><author><name sortKey="Brunkow, Me" uniqKey="Brunkow M">ME Brunkow</name></author><author><name sortKey="Ramsdell, F" uniqKey="Ramsdell F">F Ramsdell</name></author><author><name sortKey="O Briant, Kc" uniqKey="O Briant K">KC O'Briant</name></author><author><name sortKey="Zhu, Q" uniqKey="Zhu Q">Q Zhu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chen, Jm" uniqKey="Chen J">JM Chen</name></author><author><name sortKey="Ferec, C" uniqKey="Ferec C">C Ferec</name></author><author><name sortKey="Cooper, Dn" uniqKey="Cooper D">DN Cooper</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Abelson, Jf" uniqKey="Abelson J">JF Abelson</name></author><author><name sortKey="Kwan, Ky" uniqKey="Kwan K">KY Kwan</name></author><author><name sortKey="O Roak, Bj" uniqKey="O Roak B">BJ O'Roak</name></author><author><name sortKey="Baek, Dy" uniqKey="Baek D">DY Baek</name></author><author><name sortKey="Stillman, Aa" uniqKey="Stillman A">AA Stillman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Firth, Hv" uniqKey="Firth H">HV Firth</name></author><author><name sortKey="Richards, Sm" uniqKey="Richards S">SM Richards</name></author><author><name sortKey="Bevan, Ap" uniqKey="Bevan A">AP Bevan</name></author><author><name sortKey="Clayton, S" uniqKey="Clayton S">S Clayton</name></author><author><name sortKey="Corpas, M" uniqKey="Corpas M">M Corpas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Iafrate, Aj" uniqKey="Iafrate A">AJ Iafrate</name></author><author><name sortKey="Feuk, L" uniqKey="Feuk L">L Feuk</name></author><author><name sortKey="Rivera, Mn" uniqKey="Rivera M">MN Rivera</name></author><author><name sortKey="Listewnik, Ml" uniqKey="Listewnik M">ML Listewnik</name></author><author><name sortKey="Donahoe, Pk" uniqKey="Donahoe P">PK Donahoe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fiegler, H" uniqKey="Fiegler H">H Fiegler</name></author><author><name sortKey="Carr, P" uniqKey="Carr P">P Carr</name></author><author><name sortKey="Douglas, Ej" uniqKey="Douglas E">EJ Douglas</name></author><author><name sortKey="Burford, Dc" uniqKey="Burford D">DC Burford</name></author><author><name sortKey="Hunt, S" uniqKey="Hunt S">S Hunt</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Menten, B" uniqKey="Menten B">B Menten</name></author><author><name sortKey="Buysse, K" uniqKey="Buysse K">K Buysse</name></author><author><name sortKey="Vandesompele, J" uniqKey="Vandesompele J">J Vandesompele</name></author><author><name sortKey="De Smet, E" uniqKey="De Smet E">E De Smet</name></author><author><name sortKey="De Paepe, A" uniqKey="De Paepe A">A De Paepe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Menten, B" uniqKey="Menten B">B Menten</name></author><author><name sortKey="Pattyn, F" uniqKey="Pattyn F">F Pattyn</name></author><author><name sortKey="De Preter, K" uniqKey="De Preter K">K De Preter</name></author><author><name sortKey="Robbrecht, P" uniqKey="Robbrecht P">P Robbrecht</name></author><author><name sortKey="Michels, E" uniqKey="Michels E">E Michels</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hoebeeck, J" uniqKey="Hoebeeck J">J Hoebeeck</name></author><author><name sortKey="Speleman, F" uniqKey="Speleman F">F Speleman</name></author><author><name sortKey="Vandesompele, J" uniqKey="Vandesompele J">J Vandesompele</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hellemans, J" uniqKey="Hellemans J">J Hellemans</name></author><author><name sortKey="Mortier, G" uniqKey="Mortier G">G Mortier</name></author><author><name sortKey="De Paepe, A" uniqKey="De Paepe A">A De Paepe</name></author><author><name sortKey="Speleman, F" uniqKey="Speleman F">F Speleman</name></author><author><name sortKey="Vandesompele, J" uniqKey="Vandesompele J">J Vandesompele</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Giardine, B" uniqKey="Giardine B">B Giardine</name></author><author><name sortKey="Elnitski, L" uniqKey="Elnitski L">L Elnitski</name></author><author><name sortKey="Riemer, C" uniqKey="Riemer C">C Riemer</name></author><author><name sortKey="Makalowska, I" uniqKey="Makalowska I">I Makalowska</name></author><author><name sortKey="Schwartz, S" uniqKey="Schwartz S">S Schwartz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Blanchette, M" uniqKey="Blanchette M">M Blanchette</name></author><author><name sortKey="Kent, Wj" uniqKey="Kent W">WJ Kent</name></author><author><name sortKey="Riemer, C" uniqKey="Riemer C">C Riemer</name></author><author><name sortKey="Elnitski, L" uniqKey="Elnitski L">L Elnitski</name></author><author><name sortKey="Smit, Af" uniqKey="Smit A">AF Smit</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Siepel, A" uniqKey="Siepel A">A Siepel</name></author><author><name sortKey="Bejerano, G" uniqKey="Bejerano G">G Bejerano</name></author><author><name sortKey="Pedersen, Js" uniqKey="Pedersen J">JS Pedersen</name></author><author><name sortKey="Hinrichs, As" uniqKey="Hinrichs A">AS Hinrichs</name></author><author><name sortKey="Hou, M" uniqKey="Hou M">M Hou</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Howald, C" uniqKey="Howald C">C Howald</name></author><author><name sortKey="Merla, G" uniqKey="Merla G">G Merla</name></author><author><name sortKey="Digilio, Mc" uniqKey="Digilio M">MC Digilio</name></author><author><name sortKey="Amenta, S" uniqKey="Amenta S">S Amenta</name></author><author><name sortKey="Lyle, R" uniqKey="Lyle R">R Lyle</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Larkin, Ma" uniqKey="Larkin M">MA Larkin</name></author><author><name sortKey="Blackshields, G" uniqKey="Blackshields G">G Blackshields</name></author><author><name sortKey="Brown, Np" uniqKey="Brown N">NP Brown</name></author><author><name sortKey="Chenna, R" uniqKey="Chenna R">R Chenna</name></author><author><name sortKey="Mcgettigan, Pa" uniqKey="Mcgettigan P">PA McGettigan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Altschul, Sf" uniqKey="Altschul S">SF Altschul</name></author><author><name sortKey="Gish, W" uniqKey="Gish W">W Gish</name></author><author><name sortKey="Miller, W" uniqKey="Miller W">W Miller</name></author><author><name sortKey="Myers, Ew" uniqKey="Myers E">EW Myers</name></author><author><name sortKey="Lipman, Dj" uniqKey="Lipman D">DJ Lipman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tarailo Graovac, M" uniqKey="Tarailo Graovac M">M Tarailo-Graovac</name></author><author><name sortKey="Chen, N" uniqKey="Chen N">N Chen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kolpakov, R" uniqKey="Kolpakov R">R Kolpakov</name></author><author><name sortKey="Bana, G" uniqKey="Bana G">G Bana</name></author><author><name sortKey="Kucherov, G" uniqKey="Kucherov G">G Kucherov</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jurka, J" uniqKey="Jurka J">J Jurka</name></author><author><name sortKey="Klonowski, P" uniqKey="Klonowski P">P Klonowski</name></author><author><name sortKey="Dagman, V" uniqKey="Dagman V">V Dagman</name></author><author><name sortKey="Pelton, P" uniqKey="Pelton P">P Pelton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stothard, P" uniqKey="Stothard P">P Stothard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Abeysinghe, Ss" uniqKey="Abeysinghe S">SS Abeysinghe</name></author><author><name sortKey="Chuzhanova, N" uniqKey="Chuzhanova N">N Chuzhanova</name></author><author><name sortKey="Krawczak, M" uniqKey="Krawczak M">M Krawczak</name></author><author><name sortKey="Ball, Ev" uniqKey="Ball E">EV Ball</name></author><author><name sortKey="Cooper, Dn" uniqKey="Cooper D">DN Cooper</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pang, Kc" uniqKey="Pang K">KC Pang</name></author><author><name sortKey="Stephen, S" uniqKey="Stephen S">S Stephen</name></author><author><name sortKey="Dinger, Me" uniqKey="Dinger M">ME Dinger</name></author><author><name sortKey="Engstrom, Pg" uniqKey="Engstrom P">PG Engstrom</name></author><author><name sortKey="Lenhard, B" uniqKey="Lenhard B">B Lenhard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, X" uniqKey="Wang X">X Wang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hsu, Sd" uniqKey="Hsu S">SD Hsu</name></author><author><name sortKey="Chu, Ch" uniqKey="Chu C">CH Chu</name></author><author><name sortKey="Tsou, Ap" uniqKey="Tsou A">AP Tsou</name></author><author><name sortKey="Chen, Sj" uniqKey="Chen S">SJ Chen</name></author><author><name sortKey="Chen, Hc" uniqKey="Chen H">HC Chen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Griffiths Jones, S" uniqKey="Griffiths Jones S">S Griffiths-Jones</name></author><author><name sortKey="Saini, Hk" uniqKey="Saini H">HK Saini</name></author><author><name sortKey="Van Dongen, S" uniqKey="Van Dongen S">S van Dongen</name></author><author><name sortKey="Enright, Aj" uniqKey="Enright A">AJ Enright</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="He, S" uniqKey="He S">S He</name></author><author><name sortKey="Liu, C" uniqKey="Liu C">C Liu</name></author><author><name sortKey="Skogerbo, G" uniqKey="Skogerbo G">G Skogerbo</name></author><author><name sortKey="Zhao, H" uniqKey="Zhao H">H Zhao</name></author><author><name sortKey="Wang, J" uniqKey="Wang J">J Wang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rozen, S" uniqKey="Rozen S">S Rozen</name></author><author><name sortKey="Skaletsky, H" uniqKey="Skaletsky H">H Skaletsky</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kel, Ae" uniqKey="Kel A">AE Kel</name></author><author><name sortKey="Gossling, E" uniqKey="Gossling E">E Gossling</name></author><author><name sortKey="Reuter, I" uniqKey="Reuter I">I Reuter</name></author><author><name sortKey="Cheremushkin, E" uniqKey="Cheremushkin E">E Cheremushkin</name></author><author><name sortKey="Kel Margoulis, Ov" uniqKey="Kel Margoulis O">OV Kel-Margoulis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Matys, V" uniqKey="Matys V">V Matys</name></author><author><name sortKey="Fricke, E" uniqKey="Fricke E">E Fricke</name></author><author><name sortKey="Geffers, R" uniqKey="Geffers R">R Geffers</name></author><author><name sortKey="Gossling, E" uniqKey="Gossling E">E Gossling</name></author><author><name sortKey="Haubrock, M" uniqKey="Haubrock M">M Haubrock</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Visel, A" uniqKey="Visel A">A Visel</name></author><author><name sortKey="Prabhakar, S" uniqKey="Prabhakar S">S Prabhakar</name></author><author><name sortKey="Akiyama, Ja" uniqKey="Akiyama J">JA Akiyama</name></author><author><name sortKey="Shoukry, M" uniqKey="Shoukry M">M Shoukry</name></author><author><name sortKey="Lewis, Kd" uniqKey="Lewis K">KD Lewis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dekker, J" uniqKey="Dekker J">J Dekker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Miele, A" uniqKey="Miele A">A Miele</name></author><author><name sortKey="Gheldof, N" uniqKey="Gheldof N">N Gheldof</name></author><author><name sortKey="Tabuchi, Tm" uniqKey="Tabuchi T">TM Tabuchi</name></author><author><name sortKey="Dostie, J" uniqKey="Dostie J">J Dostie</name></author><author><name sortKey="Dekker, J" uniqKey="Dekker J">J Dekker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nishi, Y" uniqKey="Nishi Y">Y Nishi</name></author><author><name sortKey="Yanase, T" uniqKey="Yanase T">T Yanase</name></author><author><name sortKey="Mu, Y" uniqKey="Mu Y">Y Mu</name></author><author><name sortKey="Oba, K" uniqKey="Oba K">K Oba</name></author><author><name sortKey="Ichino, I" uniqKey="Ichino I">I Ichino</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crisponi, L" uniqKey="Crisponi L">L Crisponi</name></author><author><name sortKey="Uda, M" uniqKey="Uda M">M Uda</name></author><author><name sortKey="Deiana, M" uniqKey="Deiana M">M Deiana</name></author><author><name sortKey="Loi, A" uniqKey="Loi A">A Loi</name></author><author><name sortKey="Nagaraja, R" uniqKey="Nagaraja R">R Nagaraja</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Canada</li><li>France</li><li>Suisse</li><li>États-Unis</li></country><region><li>Massachusetts</li><li>Nouvelle-Galles du Sud</li><li>Île-de-France</li></region><settlement><li>Paris</li><li>Sydney</li></settlement></list><tree><country name="Belgique"><noRegion><name sortKey="D Haene, Barbara" sort="D Haene, Barbara" uniqKey="D Haene B" first="Barbara" last="D'Haene">Barbara D'Haene</name></noRegion><name sortKey="Beysen, Diane" sort="Beysen, Diane" uniqKey="Beysen D" first="Diane" last="Beysen">Diane Beysen</name><name sortKey="Buysse, Karen" sort="Buysse, Karen" uniqKey="Buysse K" first="Karen" last="Buysse">Karen Buysse</name><name sortKey="De Baere, Elfride" sort="De Baere, Elfride" uniqKey="De Baere E" first="Elfride" last="De Baere">Elfride De Baere</name><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><name sortKey="Menten, Bjorn" sort="Menten, Bjorn" uniqKey="Menten B" first="Björn" last="Menten">Björn Menten</name><name sortKey="Pattyn, Filip" sort="Pattyn, Filip" uniqKey="Pattyn F" first="Filip" last="Pattyn">Filip Pattyn</name><name sortKey="Speleman, Frank" sort="Speleman, Frank" uniqKey="Speleman F" first="Frank" last="Speleman">Frank Speleman</name></country><country name="Suisse"><noRegion><name sortKey="Attanasio, Catia" sort="Attanasio, Catia" uniqKey="Attanasio C" first="Catia" last="Attanasio">Catia Attanasio</name></noRegion><name sortKey="Antonarakis, Stylianos E" sort="Antonarakis, Stylianos E" uniqKey="Antonarakis S" first="Stylianos E." last="Antonarakis">Stylianos E. Antonarakis</name><name sortKey="Friedli, Marc" sort="Friedli, Marc" uniqKey="Friedli M" first="Marc" last="Friedli">Marc Friedli</name><name sortKey="Rossier, Colette" sort="Rossier, Colette" uniqKey="Rossier C" first="Colette" last="Rossier">Colette Rossier</name><name sortKey="Ucla, Catherine" sort="Ucla, Catherine" uniqKey="Ucla C" first="Catherine" last="Ucla">Catherine Ucla</name><name sortKey="Wyss, Carine" sort="Wyss, Carine" uniqKey="Wyss C" first="Carine" last="Wyss">Carine Wyss</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Dostie, Josee" sort="Dostie, Josee" uniqKey="Dostie J" first="Josée" last="Dostie">Josée Dostie</name></region><name sortKey="Dekker, Job" sort="Dekker, Job" uniqKey="Dekker J" first="Job" last="Dekker">Job Dekker</name></country><country name="Canada"><noRegion><name sortKey="Lemire, Edmond" sort="Lemire, Edmond" uniqKey="Lemire E" first="Edmond" last="Lemire">Edmond Lemire</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Bouchard, Philippe" sort="Bouchard, Philippe" uniqKey="Bouchard P" first="Philippe" last="Bouchard">Philippe Bouchard</name></region></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name></region><name sortKey="Jones, Kristie" sort="Jones, Kristie" uniqKey="Jones K" first="Kristie" last="Jones">Kristie Jones</name></country><country name="Allemagne"><noRegion><name sortKey="Lorenz, Birgit" sort="Lorenz, Birgit" uniqKey="Lorenz B" first="Birgit" last="Lorenz">Birgit Lorenz</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007C27 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 007C27 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:2689649
|texte= Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:19543368" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |