Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Identifieur interne : 000967 ( Ncbi/Curation ); précédent : 000966; suivant : 000968Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
Auteurs : Lars R. Jensen [Allemagne] ; Wei Chen [Allemagne] ; Bettina Moser [Allemagne] ; Bettina Lipkowitz [Allemagne] ; Christopher Schroeder [Allemagne] ; Luciana Musante [Allemagne] ; Andreas Tzschach [Allemagne] ; Vera M. Kalscheuer [Allemagne] ; Ilaria Meloni [Italie] ; Martine Raynaud [France] ; Hilde Van Esch [Belgique] ; Jamel Chelly [France] ; Arjan P M. De Brouwer [Pays-Bas] ; Anna Hackett [Australie] ; Sigrun Van Der Haar [Allemagne] ; Wolfram Henn [Allemagne] ; Jozef Gecz [Australie] ; Olaf Riess [Allemagne] ; Michael Bonin [Allemagne] ; Richard Reinhardt [Allemagne] ; Hans-Hilger Ropers [Allemagne] ; Andreas W. Kuss [Allemagne]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2011.
Abstract
X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting
Url:
DOI: 10.1038/ejhg.2010.244
PubMed: 21267006
PubMed Central: 3110040
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in <italic>ATRX</italic>, <italic>SLC6A8</italic> and <italic>PQBP1</italic></title><author><name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R" last="Jensen">Lars R. Jensen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lipkowitz, Bettina" sort="Lipkowitz, Bettina" uniqKey="Lipkowitz B" first="Bettina" last="Lipkowitz">Bettina Lipkowitz</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Meloni, Ilaria" sort="Meloni, Ilaria" uniqKey="Meloni I" first="Ilaria" last="Meloni">Ilaria Meloni</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Unit, Department of Molecular Biology, University of Siena</institution>, Siena,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Services de Génétique (INSERM)</institution>, Tours,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Centre for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>The GOLD Service, Hunter Genetics</institution>, Waratah, New South Wales,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Haar, Sigrun" sort="Van Der Haar, Sigrun" uniqKey="Van Der Haar S" first="Sigrun" last="Van Der Haar">Sigrun Van Der Haar</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Practice for Gynaecology and Medical Genetics</institution>, Nuremberg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Henn, Wolfram" sort="Henn, Wolfram" uniqKey="Henn W" first="Wolfram" last="Henn">Wolfram Henn</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Institute of Human Genetics, University Hospital Homburg/Saarland</institution>, Homburg/Saar,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W" last="Kuss">Andreas W. Kuss</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21267006</idno><idno type="pmc">3110040</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110040</idno><idno type="RBID">PMC:3110040</idno><idno type="doi">10.1038/ejhg.2010.244</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000002</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000002</idno><idno type="wicri:Area/Pmc/Curation">000002</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000002</idno><idno type="wicri:Area/Pmc/Checkpoint">002281</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002281</idno><idno type="wicri:Area/Ncbi/Merge">000967</idno><idno type="wicri:Area/Ncbi/Curation">000967</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in <italic>ATRX</italic>, <italic>SLC6A8</italic> and <italic>PQBP1</italic></title><author><name sortKey="Jensen, Lars R" sort="Jensen, Lars R" uniqKey="Jensen L" first="Lars R" last="Jensen">Lars R. Jensen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Moser, Bettina" sort="Moser, Bettina" uniqKey="Moser B" first="Bettina" last="Moser">Bettina Moser</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lipkowitz, Bettina" sort="Lipkowitz, Bettina" uniqKey="Lipkowitz B" first="Bettina" last="Lipkowitz">Bettina Lipkowitz</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schroeder, Christopher" sort="Schroeder, Christopher" uniqKey="Schroeder C" first="Christopher" last="Schroeder">Christopher Schroeder</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Musante, Luciana" sort="Musante, Luciana" uniqKey="Musante L" first="Luciana" last="Musante">Luciana Musante</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Tzschach, Andreas" sort="Tzschach, Andreas" uniqKey="Tzschach A" first="Andreas" last="Tzschach">Andreas Tzschach</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Meloni, Ilaria" sort="Meloni, Ilaria" uniqKey="Meloni I" first="Ilaria" last="Meloni">Ilaria Meloni</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Medical Genetics Unit, Department of Molecular Biology, University of Siena</institution>, Siena,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Services de Génétique (INSERM)</institution>, Tours,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Centre for Human Genetics, University Hospital Leuven</institution>, Leuven,<country>Belgium</country></nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center</institution>, Nijmegen,<country>The Netherlands</country></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hackett, Anna" sort="Hackett, Anna" uniqKey="Hackett A" first="Anna" last="Hackett">Anna Hackett</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>The GOLD Service, Hunter Genetics</institution>, Waratah, New South Wales,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Haar, Sigrun" sort="Van Der Haar, Sigrun" uniqKey="Van Der Haar S" first="Sigrun" last="Van Der Haar">Sigrun Van Der Haar</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Practice for Gynaecology and Medical Genetics</institution>, Nuremberg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Henn, Wolfram" sort="Henn, Wolfram" uniqKey="Henn W" first="Wolfram" last="Henn">Wolfram Henn</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Institute of Human Genetics, University Hospital Homburg/Saarland</institution>, Homburg/Saar,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Paediatrics, University of Adelaide</institution>, Adelaide,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bonin, Michael" sort="Bonin, Michael" uniqKey="Bonin M" first="Michael" last="Bonin">Michael Bonin</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Medical Genetics, University of Tübingen</institution>, Tübingen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Reinhardt, Richard" sort="Reinhardt, Richard" uniqKey="Reinhardt R" first="Richard" last="Reinhardt">Richard Reinhardt</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Kuss, Andreas W" sort="Kuss, Andreas W" uniqKey="Kuss A" first="Andreas W" last="Kuss">Andreas W. Kuss</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>, Berlin,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting <italic>ATRX</italic> (p.1761M>T), <italic>PQBP1</italic> (p.155R>X) and <italic>SLC6A8</italic> (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.</p></div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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|clé= PMC:3110040
|texte= Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
}}
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