Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH</title><author><name sortKey="Lugtenberg, D" sort="Lugtenberg, D" uniqKey="Lugtenberg D" first="D" last="Lugtenberg">D. Lugtenberg</name></author><author><name sortKey="De Brouwer, A P M" sort="De Brouwer, A P M" uniqKey="De Brouwer A" first="A P M" last="De Brouwer">A P M. De Brouwer</name></author><author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name></author><author><name sortKey="Oudakker, A R" sort="Oudakker, A R" uniqKey="Oudakker A" first="A R" last="Oudakker">A R Oudakker</name></author><author><name sortKey="Frints, S G M" sort="Frints, S G M" uniqKey="Frints S" first="S G M" last="Frints">S G M. Frints</name></author><author><name sortKey="Schrander Tumpel, C T R M" sort="Schrander Tumpel, C T R M" uniqKey="Schrander Tumpel C" first="C T R M" last="Schrander-Stumpel">C T R M. Schrander-Stumpel</name></author><author><name sortKey="Fryns, J P" sort="Fryns, J P" uniqKey="Fryns J" first="J P" last="Fryns">J P Fryns</name></author><author><name sortKey="Jensen, L R" sort="Jensen, L R" uniqKey="Jensen L" first="L R" last="Jensen">L R Jensen</name></author><author><name sortKey="Chelly, J" sort="Chelly, J" uniqKey="Chelly J" first="J" last="Chelly">J. Chelly</name></author><author><name sortKey="Moraine, C" sort="Moraine, C" uniqKey="Moraine C" first="C" last="Moraine">C. Moraine</name></author><author><name sortKey="Turner, G" sort="Turner, G" uniqKey="Turner G" first="G" last="Turner">G. Turner</name></author><author><name sortKey="Veltman, J A" sort="Veltman, J A" uniqKey="Veltman J" first="J A" last="Veltman">J A Veltman</name></author><author><name sortKey="Hamel, B C J" sort="Hamel, B C J" uniqKey="Hamel B" first="B C J" last="Hamel">B C J. Hamel</name></author><author><name sortKey="De Vries, B B A" sort="De Vries, B B A" uniqKey="De Vries B" first="B B A" last="De Vries">B B A. De Vries</name></author><author><name sortKey="Van Bokhoven, H" sort="Van Bokhoven, H" uniqKey="Van Bokhoven H" first="H" last="Van Bokhoven">H. Van Bokhoven</name></author><author><name sortKey="Yntema, H G" sort="Yntema, H G" uniqKey="Yntema H" first="H G" last="Yntema">H G Yntema</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">16169931</idno><idno type="pmc">2563232</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563232</idno><idno type="RBID">PMC:2563232</idno><idno type="doi">10.1136/jmg.2005.036178</idno><date when="2005">2005</date><idno type="wicri:Area/Pmc/Corpus">001021</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001021</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH</title><author><name sortKey="Lugtenberg, D" sort="Lugtenberg, D" uniqKey="Lugtenberg D" first="D" last="Lugtenberg">D. Lugtenberg</name></author><author><name sortKey="De Brouwer, A P M" sort="De Brouwer, A P M" uniqKey="De Brouwer A" first="A P M" last="De Brouwer">A P M. De Brouwer</name></author><author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name></author><author><name sortKey="Oudakker, A R" sort="Oudakker, A R" uniqKey="Oudakker A" first="A R" last="Oudakker">A R Oudakker</name></author><author><name sortKey="Frints, S G M" sort="Frints, S G M" uniqKey="Frints S" first="S G M" last="Frints">S G M. Frints</name></author><author><name sortKey="Schrander Tumpel, C T R M" sort="Schrander Tumpel, C T R M" uniqKey="Schrander Tumpel C" first="C T R M" last="Schrander-Stumpel">C T R M. Schrander-Stumpel</name></author><author><name sortKey="Fryns, J P" sort="Fryns, J P" uniqKey="Fryns J" first="J P" last="Fryns">J P Fryns</name></author><author><name sortKey="Jensen, L R" sort="Jensen, L R" uniqKey="Jensen L" first="L R" last="Jensen">L R Jensen</name></author><author><name sortKey="Chelly, J" sort="Chelly, J" uniqKey="Chelly J" first="J" last="Chelly">J. Chelly</name></author><author><name sortKey="Moraine, C" sort="Moraine, C" uniqKey="Moraine C" first="C" last="Moraine">C. Moraine</name></author><author><name sortKey="Turner, G" sort="Turner, G" uniqKey="Turner G" first="G" last="Turner">G. Turner</name></author><author><name sortKey="Veltman, J A" sort="Veltman, J A" uniqKey="Veltman J" first="J A" last="Veltman">J A Veltman</name></author><author><name sortKey="Hamel, B C J" sort="Hamel, B C J" uniqKey="Hamel B" first="B C J" last="Hamel">B C J. Hamel</name></author><author><name sortKey="De Vries, B B A" sort="De Vries, B B A" uniqKey="De Vries B" first="B B A" last="De Vries">B B A. De Vries</name></author><author><name sortKey="Van Bokhoven, H" sort="Van Bokhoven, H" uniqKey="Van Bokhoven H" first="H" last="Van Bokhoven">H. Van Bokhoven</name></author><author><name sortKey="Yntema, H G" sort="Yntema, H G" uniqKey="Yntema H" first="H G" last="Yntema">H G Yntema</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2005">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Several studies have shown that array based comparative genomic hybridisation (CGH) is a powerful tool for the detection of copy number changes in the genome of individuals with a congenital disorder. In this study, 40 patients with non‐specific X linked mental retardation were analysed with full coverage, X chromosomal, bacterial artificial chromosome arrays. Copy number changes were validated by multiplex ligation dependent probe amplification as a fast method to detect duplications and deletions in patient and control DNA. This approach has the capacity to detect copy number changes as small as 100 kb. We identified three causative duplications: one family with a 7 Mb duplication in Xp22.2 and two families with a 500 kb duplication in Xq28 encompassing the <italic>MECP2</italic> gene. In addition, we detected four regions with copy number changes that were frequently identified in our group of patients and therefore most likely represent genomic polymorphisms. These results confirm the power of array CGH as a diagnostic tool, but also emphasise the necessity to perform proper validation experiments by an independent technique.</p></div></front></TEI><pmc article-type="research-article"><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">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">16169931</article-id><article-id pub-id-type="pmc">2563232</article-id><article-id pub-id-type="publisher-id">mg36178</article-id><article-id pub-id-type="doi">10.1136/jmg.2005.036178</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lugtenberg</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>de Brouwer</surname><given-names>A P M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kleefstra</surname><given-names>T</given-names></name></contrib><contrib contrib-type="author"><name><surname>Oudakker</surname><given-names>A R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Frints</surname><given-names>S G M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Schrander‐Stumpel</surname><given-names>C T R M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Fryns</surname><given-names>J P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>L R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chelly</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Moraine</surname><given-names>C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Turner</surname><given-names>G</given-names></name></contrib><contrib contrib-type="author"><name><surname>Veltman</surname><given-names>J A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hamel</surname><given-names>B C J</given-names></name></contrib><contrib contrib-type="author"><name><surname>de Vries</surname><given-names>B B A</given-names></name></contrib><contrib contrib-type="author"><name><surname>van Bokhoven</surname><given-names>H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Yntema</surname><given-names>H G</given-names></name></contrib></contrib-group><aff><bold>D Lugtenberg</bold>,<bold>A P M de Brouwer</bold>,<bold>T Kleefstra</bold>,<bold>A R Oudakker</bold>,<bold>J A Veltman</bold>,<bold>B C J Hamel</bold>,<bold>B B A de Vries</bold>,<bold>H van Bokhoven</bold>,<bold>H G Yntema</bold>, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</aff><aff><bold>S G M Frints</bold>,<bold>C T R M Schrander‐Stumpel</bold>, Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands</aff><aff><bold>J P Fryns</bold>, Center for Human Genetics, University of Leuven, Leuven, Belgium</aff><aff><bold>L R Jensen</bold>, Max Planck Institute for Molecular Genetics, Berlin, Germany</aff><aff><bold>J Chelly</bold>, INSERM 129‐ICGM, Faculté de Médecine Cochin, Paris, France</aff><aff><bold>C Moraine</bold>, Service de Génétique et INSERM U316, Hôpital Bretonneau, Tours, France</aff><aff><bold>G Turner</bold>, GOLD Program, Hunter Genetics, University of Newcastle, Callaghan, NSW, Australia</aff><author-notes><corresp>Correspondence to: Helger G Yntema<break></break>PhD, Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; h.yntema@antrg.umcn.nl</corresp></author-notes><pub-date pub-type="ppub"><month>4</month><year>2006</year></pub-date><pub-date pub-type="epub"><day>16</day><month>9</month><year>2005</year></pub-date><volume>43</volume><issue>4</issue><fpage>362</fpage><lpage>370</lpage><history><date date-type="received"><day>22</day><month>6</month><year>2005</year></date><date date-type="rev-recd"><day>18</day><month>8</month><year>2005</year></date><date date-type="accepted"><day>7</day><month>9</month><year>2005</year></date></history><permissions><copyright-statement>Copyright ©2006 BMJ Publishing Group Ltd.</copyright-statement></permissions><abstract><p>Several studies have shown that array based comparative genomic hybridisation (CGH) is a powerful tool for the detection of copy number changes in the genome of individuals with a congenital disorder. In this study, 40 patients with non‐specific X linked mental retardation were analysed with full coverage, X chromosomal, bacterial artificial chromosome arrays. Copy number changes were validated by multiplex ligation dependent probe amplification as a fast method to detect duplications and deletions in patient and control DNA. This approach has the capacity to detect copy number changes as small as 100 kb. We identified three causative duplications: one family with a 7 Mb duplication in Xp22.2 and two families with a 500 kb duplication in Xq28 encompassing the <italic>MECP2</italic> gene. In addition, we detected four regions with copy number changes that were frequently identified in our group of patients and therefore most likely represent genomic polymorphisms. These results confirm the power of array CGH as a diagnostic tool, but also emphasise the necessity to perform proper validation experiments by an independent technique.</p></abstract><kwd-group><kwd>Array CGH</kwd><kwd>XLMR</kwd><kwd>duplications</kwd><kwd>copy number polymorphisms (CNPs)</kwd><kwd>MLPA</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001021 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001021 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.33. |  |