Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Identifieur interne : 001013 ( Pmc/Curation ); précédent : 001012; suivant : 001014Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Auteurs : I. Perrault [France] ; S. Saunier [France] ; S. Hanein [France] ; E. Filhol [France] ; A. Bizet [France] ; F. Collins [Australie] ; M. Salih [Arabie saoudite] ; E. Silva [Portugal] ; V. Baudouin [France] ; M. Oud [Pays-Bas] ; N. Shannon [Royaume-Uni] ; M. Le Merrer [France] ; C. Pietrement [France] ; P. Beales [Royaume-Uni] ; H. Arts [Pays-Bas] ; A. Munnich [France] ; J. Kaplan [France] ; C. Antignac [France] ; V. Cormier Daire [France] ; Jm Rozet [France]Source :
- Cilia [ 2046-2530 ] ; 2012.
Url:
DOI: 10.1186/2046-2530-1-S1-O28
PubMed: NONE
PubMed Central: 3555764
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PMC:3555764Le document en format XML
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gene</title>
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<author><name sortKey="Shannon, N" sort="Shannon, N" uniqKey="Shannon N" first="N" last="Shannon">N. Shannon</name>
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<author><name sortKey="Arts, H" sort="Arts, H" uniqKey="Arts H" first="H" last="Arts">H. Arts</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the <italic>IFT140</italic>
gene</title>
<author><name sortKey="Perrault, I" sort="Perrault, I" uniqKey="Perrault I" first="I" last="Perrault">I. Perrault</name>
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<author><name sortKey="Filhol, E" sort="Filhol, E" uniqKey="Filhol E" first="E" last="Filhol">E. Filhol</name>
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<author><name sortKey="Baudouin, V" sort="Baudouin, V" uniqKey="Baudouin V" first="V" last="Baudouin">V. Baudouin</name>
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<author><name sortKey="Oud, M" sort="Oud, M" uniqKey="Oud M" first="M" last="Oud">M. Oud</name>
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<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
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<author><name sortKey="Shannon, N" sort="Shannon, N" uniqKey="Shannon N" first="N" last="Shannon">N. Shannon</name>
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<author><name sortKey="Le Merrer, M" sort="Le Merrer, M" uniqKey="Le Merrer M" first="M" last="Le Merrer">M. Le Merrer</name>
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<author><name sortKey="Pietrement, C" sort="Pietrement, C" uniqKey="Pietrement C" first="C" last="Pietrement">C. Pietrement</name>
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<author><name sortKey="Beales, P" sort="Beales, P" uniqKey="Beales P" first="P" last="Beales">P. Beales</name>
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<author><name sortKey="Arts, H" sort="Arts, H" uniqKey="Arts H" first="H" last="Arts">H. Arts</name>
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<author><name sortKey="Munnich, A" sort="Munnich, A" uniqKey="Munnich A" first="A" last="Munnich">A. Munnich</name>
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<author><name sortKey="Antignac, C" sort="Antignac, C" uniqKey="Antignac C" first="C" last="Antignac">C. Antignac</name>
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<author><name sortKey="Cormier Daire, V" sort="Cormier Daire, V" uniqKey="Cormier Daire V" first="V" last="Cormier Daire">V. Cormier Daire</name>
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<author><name sortKey="Rozet, Jm" sort="Rozet, Jm" uniqKey="Rozet J" first="Jm" last="Rozet">Jm Rozet</name>
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<series><title level="j">Cilia</title>
<idno type="eISSN">2046-2530</idno>
<imprint><date when="2012">2012</date>
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<journal-id journal-id-type="iso-abbrev">Cilia</journal-id>
<journal-title-group><journal-title>Cilia</journal-title>
</journal-title-group>
<issn pub-type="epub">2046-2530</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
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<article-meta><article-id pub-id-type="pmc">3555764</article-id>
<article-id pub-id-type="publisher-id">2046-2530-1-S1-O28</article-id>
<article-id pub-id-type="doi">10.1186/2046-2530-1-S1-O28</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Oral Presentation</subject>
</subj-group>
</article-categories>
<title-group><article-title>Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the <italic>IFT140</italic>
gene</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes" id="A1"><name><surname>Perrault</surname>
<given-names>I</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>isabelle.perrault@inserm.fr</email>
</contrib>
<contrib contrib-type="author" id="A2"><name><surname>Saunier</surname>
<given-names>S</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
</contrib>
<contrib contrib-type="author" id="A3"><name><surname>Hanein</surname>
<given-names>S</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
</contrib>
<contrib contrib-type="author" id="A4"><name><surname>Filhol</surname>
<given-names>E</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
</contrib>
<contrib contrib-type="author" id="A5"><name><surname>Bizet</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
</contrib>
<contrib contrib-type="author" id="A6"><name><surname>Collins</surname>
<given-names>F</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
</contrib>
<contrib contrib-type="author" id="A7"><name><surname>Salih</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="I4">4</xref>
</contrib>
<contrib contrib-type="author" id="A8"><name><surname>Silva</surname>
<given-names>E</given-names>
</name>
<xref ref-type="aff" rid="I5">5</xref>
</contrib>
<contrib contrib-type="author" id="A9"><name><surname>Baudouin</surname>
<given-names>V</given-names>
</name>
<xref ref-type="aff" rid="I6">6</xref>
</contrib>
<contrib contrib-type="author" id="A10"><name><surname>Oud</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="I7">7</xref>
</contrib>
<contrib contrib-type="author" id="A11"><name><surname>Shannon</surname>
<given-names>N</given-names>
</name>
<xref ref-type="aff" rid="I8">8</xref>
</contrib>
<contrib contrib-type="author" id="A12"><name><surname>Le Merrer</surname>
<given-names>M</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
</contrib>
<contrib contrib-type="author" id="A13"><name><surname>Pietrement</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="I9">9</xref>
</contrib>
<contrib contrib-type="author" id="A14"><name><surname>Beales</surname>
<given-names>P</given-names>
</name>
<xref ref-type="aff" rid="I10">10</xref>
</contrib>
<contrib contrib-type="author" id="A15"><name><surname>Arts</surname>
<given-names>H</given-names>
</name>
<xref ref-type="aff" rid="I7">7</xref>
</contrib>
<contrib contrib-type="author" id="A16"><name><surname>Munnich</surname>
<given-names>A</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
</contrib>
<contrib contrib-type="author" id="A17"><name><surname>Kaplan</surname>
<given-names>J</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
</contrib>
<contrib contrib-type="author" id="A18"><name><surname>Antignac</surname>
<given-names>C</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
</contrib>
<contrib contrib-type="author" id="A19"><name><surname>Cormier Daire</surname>
<given-names>V</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
</contrib>
<contrib contrib-type="author" id="A20"><name><surname>Rozet</surname>
<given-names>JM</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
</contrib>
</contrib-group>
<aff id="I1"><label>1</label>
INSERM U781 & Department of Genetics, Paris Descartes University, France</aff>
<aff id="I2"><label>2</label>
INSERM, U983, Paris Descartes University, France</aff>
<aff id="I3"><label>3</label>
Department of Clinical Genetics,Westmead Hospital, Sydney, Australia</aff>
<aff id="I4"><label>4</label>
Division of Pediatric Neurology, King Khalid University Hospital, Riyadh, Saudi Arabia</aff>
<aff id="I5"><label>5</label>
Department of Ophthalmology, Coimbra University Hospital, Portugal</aff>
<aff id="I6"><label>6</label>
Department of Nephrology, CHU Robert Debré, Paris, France</aff>
<aff id="I7"><label>7</label>
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</aff>
<aff id="I8"><label>8</label>
Clinical Genetics Service, City Hospital, Nottingham, UK</aff>
<aff id="I9"><label>9</label>
Department of Pediatry, American Memorial Hospital, CHU Reims, France</aff>
<aff id="I10"><label>10</label>
Molecular Medicine Unit, University College London (UCL) Institute of Child Health , UK</aff>
<pub-date pub-type="collection"><year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>16</day>
<month>11</month>
<year>2012</year>
</pub-date>
<volume>1</volume>
<issue>Suppl 1</issue>
<supplement><named-content content-type="supplement-title">Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012) </named-content>
<named-content content-type="supplement-editor">Phil L Beales and Hannah M Mitchison</named-content>
<named-content content-type="supplement-sponsor">This supplement has not been supported by sponsorship or other external funding.</named-content>
</supplement>
<fpage>O28</fpage>
<lpage>O28</lpage>
<permissions><copyright-statement>Copyright ©2012 Perrault et al; licensee BioMed Central Ltd.</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>Perrault et al; licensee BioMed Central Ltd.</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<self-uri xlink:href="http://www.ciliajournal.com/content/1/S1/O28"></self-uri>
<conference><conf-date>16-18 May 2012</conf-date>
<conf-name>First International Cilia in Development and Disease Scientific Conference (2012)</conf-name>
<conf-loc>London, UK</conf-loc>
</conference>
</article-meta>
</front>
</pmc>
</record>
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