AustralieFrV1, Pmc, Corpus, bibRecord, 000014

Clinical utility gene card for: Centronuclear and myotubular myopathies

Identifieur interne : 000014 ( Pmc/Corpus ); précédent : 000013; suivant : 000015

Clinical utility gene card for: Centronuclear and myotubular myopathies

Auteurs : Valérie Biancalana ; Alan H. Beggs ; Soma Das ; Heinz Jungbluth ; Wolfram Kress ; Ichizo Nishino ; Kathryn North ; Norma B. Romero ; Jocelyn Laporte

Source :

European Journal of Human Genetics [ 1018-4813 ] ; 2012.

RBID : PMC:3449068
Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449068

DOI: 10.1038/ejhg.2012.91
PubMed: 22617344
PubMed Central: 3449068

Links to Exploration step

PMC:3449068

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><bold>Clinical utility gene card for: Centronuclear and myotubular myopathies</bold>
</title>
<author><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name>
<affiliation><nlm:aff id="aff1"><institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Strasbourg,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H" last="Beggs">Alan H. Beggs</name>
<affiliation><nlm:aff id="aff3"><institution>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School</institution>
, Boston, MA,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name>
<affiliation><nlm:aff id="aff4"><institution>Department of Human Genetics, The University of Chicago</institution>
, Chicago, IL,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jungbluth, Heinz" sort="Jungbluth, Heinz" uniqKey="Jungbluth H" first="Heinz" last="Jungbluth">Heinz Jungbluth</name>
<affiliation><nlm:aff id="aff5"><institution>Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6"><institution>Clinical Neuroscience Division, IOP, King's College London</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kress, Wolfram" sort="Kress, Wolfram" uniqKey="Kress W" first="Wolfram" last="Kress">Wolfram Kress</name>
<affiliation><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Wuerzburg</institution>
, Wuerzburg,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name>
<affiliation><nlm:aff id="aff8"><institution>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
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<author><name sortKey="North, Kathryn" sort="North, Kathryn" uniqKey="North K" first="Kathryn" last="North">Kathryn North</name>
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, Sydney, New South Wales,<country>Australia</country>
</nlm:aff>
</affiliation>
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<author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B" last="Romero">Norma B. Romero</name>
<affiliation><nlm:aff id="aff10"><institution>Unit of Neuromuscular Morphology, Institute of Myology, UPMC University Paris 6 UM76, Inserm UMRS 974, CNRS UMR 7215, AP-HP, GHU Pitié-Salpêtrière</institution>
, Paris,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
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<idno type="pmc">3449068</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449068</idno>
<idno type="RBID">PMC:3449068</idno>
<idno type="doi">10.1038/ejhg.2012.91</idno>
<date when="2012">2012</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><bold>Clinical utility gene card for: Centronuclear and myotubular myopathies</bold>
</title>
<author><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name>
<affiliation><nlm:aff id="aff1"><institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Strasbourg,<country>France</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H" last="Beggs">Alan H. Beggs</name>
<affiliation><nlm:aff id="aff3"><institution>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School</institution>
, Boston, MA,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name>
<affiliation><nlm:aff id="aff4"><institution>Department of Human Genetics, The University of Chicago</institution>
, Chicago, IL,<country>USA</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jungbluth, Heinz" sort="Jungbluth, Heinz" uniqKey="Jungbluth H" first="Heinz" last="Jungbluth">Heinz Jungbluth</name>
<affiliation><nlm:aff id="aff5"><institution>Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="aff6"><institution>Clinical Neuroscience Division, IOP, King's College London</institution>
, London,<country>UK</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kress, Wolfram" sort="Kress, Wolfram" uniqKey="Kress W" first="Wolfram" last="Kress">Wolfram Kress</name>
<affiliation><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Wuerzburg</institution>
, Wuerzburg,<country>Germany</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name>
<affiliation><nlm:aff id="aff8"><institution>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="North, Kathryn" sort="North, Kathryn" uniqKey="North K" first="Kathryn" last="North">Kathryn North</name>
<affiliation><nlm:aff id="aff9"><institution>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Faculty of Medicine, University of Sydney</institution>
, Sydney, New South Wales,<country>Australia</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B" last="Romero">Norma B. Romero</name>
<affiliation><nlm:aff id="aff10"><institution>Unit of Neuromuscular Morphology, Institute of Myology, UPMC University Paris 6 UM76, Inserm UMRS 974, CNRS UMR 7215, AP-HP, GHU Pitié-Salpêtrière</institution>
, Paris,<country>France</country>
</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
<affiliation><nlm:aff id="aff2"><institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2012">2012</date>
</imprint>
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<pmc article-type="other"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22617344</article-id>
<article-id pub-id-type="pmc">3449068</article-id>
<article-id pub-id-type="pii">ejhg201291</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2012.91</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Clinical Utility Gene Card</subject>
</subj-group>
</article-categories>
<title-group><article-title><bold>Clinical utility gene card for: Centronuclear and myotubular myopathies</bold>
</article-title>
<alt-title alt-title-type="running">Clinical Utility Gene Card</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Biancalana</surname>
<given-names>Valérie</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
<xref ref-type="corresp" rid="caf1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beggs</surname>
<given-names>Alan H</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Das</surname>
<given-names>Soma</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jungbluth</surname>
<given-names>Heinz</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kress</surname>
<given-names>Wolfram</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nishino</surname>
<given-names>Ichizo</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>North</surname>
<given-names>Kathryn</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Romero</surname>
<given-names>Norma B</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Laporte</surname>
<given-names>Jocelyn</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<aff id="aff1"><label>1</label>
<institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Strasbourg,<country>France</country>
</aff>
<aff id="aff2"><label>2</label>
<institution>Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France</institution>
, Illkirch,<country>France</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School</institution>
, Boston, MA,<country>USA</country>
</aff>
<aff id="aff4"><label>4</label>
<institution>Department of Human Genetics, The University of Chicago</institution>
, Chicago, IL,<country>USA</country>
</aff>
<aff id="aff5"><label>5</label>
<institution>Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital</institution>
, London,<country>UK</country>
</aff>
<aff id="aff6"><label>6</label>
<institution>Clinical Neuroscience Division, IOP, King's College London</institution>
, London,<country>UK</country>
</aff>
<aff id="aff7"><label>7</label>
<institution>Institute of Human Genetics, University of Wuerzburg</institution>
, Wuerzburg,<country>Germany</country>
</aff>
<aff id="aff8"><label>8</label>
<institution>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)</institution>
, Tokyo,<country>Japan</country>
</aff>
<aff id="aff9"><label>9</label>
<institution>Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Faculty of Medicine, University of Sydney</institution>
, Sydney, New South Wales,<country>Australia</country>
</aff>
<aff id="aff10"><label>10</label>
<institution>Unit of Neuromuscular Morphology, Institute of Myology, UPMC University Paris 6 UM76, Inserm UMRS 974, CNRS UMR 7215, AP-HP, GHU Pitié-Salpêtrière</institution>
, Paris,<country>France</country>
</aff>
</contrib-group>
<author-notes><corresp id="caf1"><label>*</label>
<institution>Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU</institution>
, Nouvel Hôpital Civil, 1 place de l' Hôpital, Strasbourg 67091, <country>France</country>
. Tel: +33 369 55 07 77; Fax: +33 369 55 18 94; E-mail: <email>valerie.biancalana@chru-strasbourg.fr</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>10</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>23</day>
<month>05</month>
<year>2012</year>
</pub-date>
<volume>20</volume>
<issue>10</issue>
<fpage></fpage>
<lpage></lpage>
<permissions><copyright-statement>Copyright © 2012 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
</permissions>
</article-meta>
</front>
</pmc>
</record>

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Clinical utility gene card for: Centronuclear and myotubular myopathies

Clinical utility gene card for: Centronuclear and myotubular myopathies

Source :

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