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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A large-scale mutation search reveals genetic heterogeneity in 3M syndrome</title><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Delezoide, Anee Lise" sort="Delezoide, Anee Lise" uniqKey="Delezoide A" first="Anee-Lise" last="Delezoide">Anee-Lise Delezoide</name><affiliation><nlm:aff id="aff2"><institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Guimiot, Fabien" sort="Guimiot, Fabien" uniqKey="Guimiot F" first="Fabien" last="Guimiot">Fabien Guimiot</name><affiliation><nlm:aff id="aff2"><institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation><nlm:aff id="aff3"><institution>Department of Genetics, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Da Silva, Daniela Bezerra" sort="Da Silva, Daniela Bezerra" uniqKey="Da Silva D" first="Daniela Bezerra" last="Da Silva">Daniela Bezerra Da Silva</name><affiliation><nlm:aff id="aff4"><institution>Service de génétique, CHU Sainte Justine</institution>, Montreal,<country>Canada</country></nlm:aff></affiliation></author><author><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><affiliation><nlm:aff id="aff5"><institution>Department of Biochemistry and Medical Genetics and INSERM, U694</institution>, Angers,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chatelain, Pierre" sort="Chatelain, Pierre" uniqKey="Chatelain P" first="Pierre" last="Chatelain">Pierre Chatelain</name><affiliation><nlm:aff id="aff6"><institution>Service d'endocrinologie, Hopital Debrousse 2</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name><affiliation><nlm:aff id="aff7"><institution>Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust</institution>, Leeds,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Clark, Robin" sort="Clark, Robin" uniqKey="Clark R" first="Robin" last="Clark">Robin Clark</name><affiliation><nlm:aff id="aff8"><institution>Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine</institution>, Loma Linda,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Cox, Helen" sort="Cox, Helen" uniqKey="Cox H" first="Helen" last="Cox">Helen Cox</name><affiliation><nlm:aff id="aff9"><institution>West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation><nlm:aff id="aff10"><institution>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Edouard, Thomas" sort="Edouard, Thomas" uniqKey="Edouard T" first="Thomas" last="Edouard">Thomas Edouard</name><affiliation><nlm:aff id="aff11"><institution>Service d'Endocrinologie Pédiatrique, Hopital Purpan</institution>, Toulouse,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Fano, Virginia" sort="Fano, Virginia" uniqKey="Fano V" first="Virginia" last="Fano">Virginia Fano</name><affiliation><nlm:aff id="aff12"><institution>Hospital JP Garrahan, Combate de los Pozos 1881</institution>, Buenos Aires,<country>Argentina</country></nlm:aff></affiliation></author><author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name><affiliation><nlm:aff id="aff13"><institution>Genetic Health Queensland, Royal Children's Hospital</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><affiliation><nlm:aff id="aff14"><institution>Institut für Humangenetik Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria-Luisa" last="Giovannucci-Uzielli">Maria-Luisa Giovannucci-Uzielli</name><affiliation><nlm:aff id="aff15"><institution>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</institution>, Firenze,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Graul Neumann, Luitgard Margarete" sort="Graul Neumann, Luitgard Margarete" uniqKey="Graul Neumann L" first="Luitgard Margarete" last="Graul-Neumann">Luitgard Margarete Graul-Neumann</name><affiliation><nlm:aff id="aff16"><institution>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</institution>, Berlin,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Van Hagen, Johana Maria" sort="Van Hagen, Johana Maria" uniqKey="Van Hagen J" first="Johana-Maria" last="Van Hagen">Johana-Maria Van Hagen</name><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Hest, Liselot" sort="Van Hest, Liselot" uniqKey="Van Hest L" first="Liselot" last="Van Hest">Liselot Van Hest</name><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name><affiliation><nlm:aff id="aff18"><institution>Centro de Genética Médica, Instituto Fernandes Figueira</institution>, Rio de Janeiro,<country>Brazil</country></nlm:aff></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation><nlm:aff id="aff19"><institution>Department of Human Genetics, Hadassah University Hospital</institution>, Jerusalem,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Partsch, Carl Joachim" sort="Partsch, Carl Joachim" uniqKey="Partsch C" first="Carl-Joachim" last="Partsch">Carl-Joachim Partsch</name><affiliation><nlm:aff id="aff20"><institution>Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche</institution>, Esslingen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Plauchu, Henry" sort="Plauchu, Henry" uniqKey="Plauchu H" first="Henry" last="Plauchu">Henry Plauchu</name><affiliation><nlm:aff id="aff21"><institution>Service de Génétique, Hôpital de l'Hôtel-Dieu</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name><affiliation><nlm:aff id="aff22"><institution>Royal Hospital, Goverment of Muscat 113</institution>, Oman,<country>UAE</country></nlm:aff></affiliation></author><author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name><affiliation><nlm:aff id="aff23"><institution>Department of Pediatrics, Federico II University</institution>, Naples,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation><nlm:aff id="aff24"><institution>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School</institution>, Westmead,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Steichen Gersdorf, Elisabeth" sort="Steichen Gersdorf, Elisabeth" uniqKey="Steichen Gersdorf E" first="Elisabeth" last="Steichen-Gersdorf">Elisabeth Steichen-Gersdorf</name><affiliation><nlm:aff id="aff25"><institution>Universitätsklinik für Kinder-und Jugendheilkunde</institution>, Innsbruck,<country>Austria</country></nlm:aff></affiliation></author><author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name><affiliation><nlm:aff id="aff26"><institution>Department of Clinical genetics, Churchill Hospital</institution>, Oxford,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation><nlm:aff id="aff27"><institution>Institute of Human Genetics</institution>, Freiburg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation><nlm:aff id="aff28"><institution>Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg</institution>,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19225462</idno><idno type="pmc">2986175</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986175</idno><idno type="RBID">PMC:2986175</idno><idno type="doi">10.1038/ejhg.2008.200</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">000001</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000001</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A large-scale mutation search reveals genetic heterogeneity in 3M syndrome</title><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Delezoide, Anee Lise" sort="Delezoide, Anee Lise" uniqKey="Delezoide A" first="Anee-Lise" last="Delezoide">Anee-Lise Delezoide</name><affiliation><nlm:aff id="aff2"><institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Guimiot, Fabien" sort="Guimiot, Fabien" uniqKey="Guimiot F" first="Fabien" last="Guimiot">Fabien Guimiot</name><affiliation><nlm:aff id="aff2"><institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation><nlm:aff id="aff3"><institution>Department of Genetics, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Malan, Valerie" sort="Malan, Valerie" uniqKey="Malan V" first="Valérie" last="Malan">Valérie Malan</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Da Silva, Daniela Bezerra" sort="Da Silva, Daniela Bezerra" uniqKey="Da Silva D" first="Daniela Bezerra" last="Da Silva">Daniela Bezerra Da Silva</name><affiliation><nlm:aff id="aff4"><institution>Service de génétique, CHU Sainte Justine</institution>, Montreal,<country>Canada</country></nlm:aff></affiliation></author><author><name sortKey="Bonneau, Dominique" sort="Bonneau, Dominique" uniqKey="Bonneau D" first="Dominique" last="Bonneau">Dominique Bonneau</name><affiliation><nlm:aff id="aff5"><institution>Department of Biochemistry and Medical Genetics and INSERM, U694</institution>, Angers,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chatelain, Pierre" sort="Chatelain, Pierre" uniqKey="Chatelain P" first="Pierre" last="Chatelain">Pierre Chatelain</name><affiliation><nlm:aff id="aff6"><institution>Service d'endocrinologie, Hopital Debrousse 2</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name><affiliation><nlm:aff id="aff7"><institution>Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust</institution>, Leeds,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Clark, Robin" sort="Clark, Robin" uniqKey="Clark R" first="Robin" last="Clark">Robin Clark</name><affiliation><nlm:aff id="aff8"><institution>Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine</institution>, Loma Linda,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Cox, Helen" sort="Cox, Helen" uniqKey="Cox H" first="Helen" last="Cox">Helen Cox</name><affiliation><nlm:aff id="aff9"><institution>West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation><nlm:aff id="aff10"><institution>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Edouard, Thomas" sort="Edouard, Thomas" uniqKey="Edouard T" first="Thomas" last="Edouard">Thomas Edouard</name><affiliation><nlm:aff id="aff11"><institution>Service d'Endocrinologie Pédiatrique, Hopital Purpan</institution>, Toulouse,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Fano, Virginia" sort="Fano, Virginia" uniqKey="Fano V" first="Virginia" last="Fano">Virginia Fano</name><affiliation><nlm:aff id="aff12"><institution>Hospital JP Garrahan, Combate de los Pozos 1881</institution>, Buenos Aires,<country>Argentina</country></nlm:aff></affiliation></author><author><name sortKey="Gibson, Kate" sort="Gibson, Kate" uniqKey="Gibson K" first="Kate" last="Gibson">Kate Gibson</name><affiliation><nlm:aff id="aff13"><institution>Genetic Health Queensland, Royal Children's Hospital</institution>, Brisbane,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><affiliation><nlm:aff id="aff14"><institution>Institut für Humangenetik Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria-Luisa" last="Giovannucci-Uzielli">Maria-Luisa Giovannucci-Uzielli</name><affiliation><nlm:aff id="aff15"><institution>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</institution>, Firenze,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Graul Neumann, Luitgard Margarete" sort="Graul Neumann, Luitgard Margarete" uniqKey="Graul Neumann L" first="Luitgard Margarete" last="Graul-Neumann">Luitgard Margarete Graul-Neumann</name><affiliation><nlm:aff id="aff16"><institution>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</institution>, Berlin,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Van Hagen, Johana Maria" sort="Van Hagen, Johana Maria" uniqKey="Van Hagen J" first="Johana-Maria" last="Van Hagen">Johana-Maria Van Hagen</name><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Van Hest, Liselot" sort="Van Hest, Liselot" uniqKey="Van Hest L" first="Liselot" last="Van Hest">Liselot Van Hest</name><affiliation><nlm:aff id="aff17"><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Horovitz, Dafne" sort="Horovitz, Dafne" uniqKey="Horovitz D" first="Dafne" last="Horovitz">Dafne Horovitz</name><affiliation><nlm:aff id="aff18"><institution>Centro de Genética Médica, Instituto Fernandes Figueira</institution>, Rio de Janeiro,<country>Brazil</country></nlm:aff></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation><nlm:aff id="aff19"><institution>Department of Human Genetics, Hadassah University Hospital</institution>, Jerusalem,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Partsch, Carl Joachim" sort="Partsch, Carl Joachim" uniqKey="Partsch C" first="Carl-Joachim" last="Partsch">Carl-Joachim Partsch</name><affiliation><nlm:aff id="aff20"><institution>Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche</institution>, Esslingen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Plauchu, Henry" sort="Plauchu, Henry" uniqKey="Plauchu H" first="Henry" last="Plauchu">Henry Plauchu</name><affiliation><nlm:aff id="aff21"><institution>Service de Génétique, Hôpital de l'Hôtel-Dieu</institution>, Lyon,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name><affiliation><nlm:aff id="aff22"><institution>Royal Hospital, Goverment of Muscat 113</institution>, Oman,<country>UAE</country></nlm:aff></affiliation></author><author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name><affiliation><nlm:aff id="aff23"><institution>Department of Pediatrics, Federico II University</institution>, Naples,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation><nlm:aff id="aff24"><institution>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School</institution>, Westmead,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Steichen Gersdorf, Elisabeth" sort="Steichen Gersdorf, Elisabeth" uniqKey="Steichen Gersdorf E" first="Elisabeth" last="Steichen-Gersdorf">Elisabeth Steichen-Gersdorf</name><affiliation><nlm:aff id="aff25"><institution>Universitätsklinik für Kinder-und Jugendheilkunde</institution>, Innsbruck,<country>Austria</country></nlm:aff></affiliation></author><author><name sortKey="Stewart, Helen" sort="Stewart, Helen" uniqKey="Stewart H" first="Helen" last="Stewart">Helen Stewart</name><affiliation><nlm:aff id="aff26"><institution>Department of Clinical genetics, Churchill Hospital</institution>, Oxford,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation><nlm:aff id="aff27"><institution>Institute of Human Genetics</institution>, Freiburg,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation><nlm:aff id="aff28"><institution>Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg</institution>,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff1"><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<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="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the <italic>CUL7</italic> gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious <italic>CUL7</italic> mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a <italic>CUL7</italic> mutation. Lack of mutations in 10/33 cases and exclusion of the <italic>CUL7</italic> locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.</p></div></front></TEI><pmc article-type="brief-report"><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-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">19225462</article-id><article-id pub-id-type="pmc">2986175</article-id><article-id pub-id-type="pii">ejhg2008200</article-id><article-id pub-id-type="doi">10.1038/ejhg.2008.200</article-id><article-categories><subj-group subj-group-type="heading"><subject>Short Report</subject></subj-group></article-categories><title-group><article-title>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome</article-title><alt-title alt-title-type="running">A large-scale mutation search in 3M syndrome</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Huber</surname><given-names>Céline</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Delezoide</surname><given-names>Anee-Lise</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Guimiot</surname><given-names>Fabien</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Baumann</surname><given-names>Clarisse</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Malan</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Le Merrer</surname><given-names>Martine</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Da Silva</surname><given-names>Daniela Bezerra</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Bonneau</surname><given-names>Dominique</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Chatelain</surname><given-names>Pierre</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Chu</surname><given-names>Carol</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Clark</surname><given-names>Robin</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Cox</surname><given-names>Helen</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Edery</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Edouard</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>Fano</surname><given-names>Virginia</given-names></name><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Gibson</surname><given-names>Kate</given-names></name><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Gillessen-Kaesbach</surname><given-names>Gabriele</given-names></name><xref ref-type="aff" rid="aff14">14</xref></contrib><contrib contrib-type="author"><name><surname>Giovannucci-Uzielli</surname><given-names>Maria-Luisa</given-names></name><xref ref-type="aff" rid="aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Graul-Neumann</surname><given-names>Luitgard Margarete</given-names></name><xref ref-type="aff" rid="aff16">16</xref></contrib><contrib contrib-type="author"><name><surname>van Hagen</surname><given-names>Johana-Maria</given-names></name><xref ref-type="aff" rid="aff17">17</xref></contrib><contrib contrib-type="author"><name><surname>van Hest</surname><given-names>Liselot</given-names></name><xref ref-type="aff" rid="aff17">17</xref></contrib><contrib contrib-type="author"><name><surname>Horovitz</surname><given-names>Dafne</given-names></name><xref ref-type="aff" rid="aff18">18</xref></contrib><contrib contrib-type="author"><name><surname>Melki</surname><given-names>Judith</given-names></name><xref ref-type="aff" rid="aff19">19</xref></contrib><contrib contrib-type="author"><name><surname>Partsch</surname><given-names>Carl-Joachim</given-names></name><xref ref-type="aff" rid="aff20">20</xref></contrib><contrib contrib-type="author"><name><surname>Plauchu</surname><given-names>Henry</given-names></name><xref ref-type="aff" rid="aff21">21</xref></contrib><contrib contrib-type="author"><name><surname>Rajab</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="aff22">22</xref></contrib><contrib contrib-type="author"><name><surname>Rossi</surname><given-names>Massimiliano</given-names></name><xref ref-type="aff" rid="aff23">23</xref></contrib><contrib contrib-type="author"><name><surname>Sillence</surname><given-names>David</given-names></name><xref ref-type="aff" rid="aff24">24</xref></contrib><contrib contrib-type="author"><name><surname>Steichen-Gersdorf</surname><given-names>Elisabeth</given-names></name><xref ref-type="aff" rid="aff25">25</xref></contrib><contrib contrib-type="author"><name><surname>Stewart</surname><given-names>Helen</given-names></name><xref ref-type="aff" rid="aff26">26</xref></contrib><contrib contrib-type="author"><name><surname>Unger</surname><given-names>Sheila</given-names></name><xref ref-type="aff" rid="aff27">27</xref></contrib><contrib contrib-type="author"><name><surname>Zenker</surname><given-names>Martin</given-names></name><xref ref-type="aff" rid="aff28">28</xref></contrib><contrib contrib-type="author"><name><surname>Munnich</surname><given-names>Arnold</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, Paris,<country>France</country></aff><aff id="aff2"><label>2</label><institution>Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></aff><aff id="aff3"><label>3</label><institution>Department of Genetics, AP-HP, Hôpital Robert Debré</institution>, Paris,<country>France</country></aff><aff id="aff4"><label>4</label><institution>Service de génétique, CHU Sainte Justine</institution>, Montreal,<country>Canada</country></aff><aff id="aff5"><label>5</label><institution>Department of Biochemistry and Medical Genetics and INSERM, U694</institution>, Angers,<country>France</country></aff><aff id="aff6"><label>6</label><institution>Service d'endocrinologie, Hopital Debrousse 2</institution>, Lyon,<country>France</country></aff><aff id="aff7"><label>7</label><institution>Yorkshire Regional Genetic Service, Leeds Teaching Hospitals Trust</institution>, Leeds,<country>UK</country></aff><aff id="aff8"><label>8</label><institution>Division of Clinical Genetics, Department of Pediatrics, Loma Linda School of Medicine</institution>, Loma Linda,<country>USA</country></aff><aff id="aff9"><label>9</label><institution>West Midlands Regional Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham,<country>UK</country></aff><aff id="aff10"><label>10</label><institution>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon</institution>, Lyon,<country>France</country></aff><aff id="aff11"><label>11</label><institution>Service d'Endocrinologie Pédiatrique, Hopital Purpan</institution>, Toulouse,<country>France</country></aff><aff id="aff12"><label>12</label><institution>Hospital JP Garrahan, Combate de los Pozos 1881</institution>, Buenos Aires,<country>Argentina</country></aff><aff id="aff13"><label>13</label><institution>Genetic Health Queensland, Royal Children's Hospital</institution>, Brisbane,<country>Australia</country></aff><aff id="aff14"><label>14</label><institution>Institut für Humangenetik Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></aff><aff id="aff15"><label>15</label><institution>Department of Paediatrics, Genetics and Molecular Medicine, University of Florence</institution>, Firenze,<country>Italy</country></aff><aff id="aff16"><label>16</label><institution>Institute of Human Genetics, Charité, Campus Virchow-Klinikum</institution>, Berlin,<country>Germany</country></aff><aff id="aff17"><label>17</label><institution>Department of Clinical Genetics, VU university medical centre</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff18"><label>18</label><institution>Centro de Genética Médica, Instituto Fernandes Figueira</institution>, Rio de Janeiro,<country>Brazil</country></aff><aff id="aff19"><label>19</label><institution>Department of Human Genetics, Hadassah University Hospital</institution>, Jerusalem,<country>Israel</country></aff><aff id="aff20"><label>20</label><institution>Städtische Kliniken Esslingen, Klinik für Kinder und Jugendliche</institution>, Esslingen,<country>Germany</country></aff><aff id="aff21"><label>21</label><institution>Service de Génétique, Hôpital de l'Hôtel-Dieu</institution>, Lyon,<country>France</country></aff><aff id="aff22"><label>22</label><institution>Royal Hospital, Goverment of Muscat 113</institution>, Oman,<country>UAE</country></aff><aff id="aff23"><label>23</label><institution>Department of Pediatrics, Federico II University</institution>, Naples,<country>Italy</country></aff><aff id="aff24"><label>24</label><institution>Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School</institution>, Westmead,<country>Australia</country></aff><aff id="aff25"><label>25</label><institution>Universitätsklinik für Kinder-und Jugendheilkunde</institution>, Innsbruck,<country>Austria</country></aff><aff id="aff26"><label>26</label><institution>Department of Clinical genetics, Churchill Hospital</institution>, Oxford,<country>UK</country></aff><aff id="aff27"><label>27</label><institution>Institute of Human Genetics</institution>, Freiburg,<country>Germany</country></aff><aff id="aff28"><label>28</label><institution>Institute of Human Genetics, University Hospital, Erlangen, University of Erlangen-Nuremberg</institution>,<country>Germany</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Université Paris Descartes, AP-HP, INSERM, Department of Genetics and INSERM U781, Hôpital Necker Enfants Malades</institution>, 149 rue de Sèvres 75015, Paris, <country>France</country>. Tel: +33 144 495 163; Fax: 33 144 495 150; E-mail: <email>valerie.cormier-daire@inserm.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>03</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>29</day><month>10</month><year>2008</year></pub-date><volume>17</volume><issue>3</issue><fpage>395</fpage><lpage>400</lpage><history><date date-type="received"><day>20</day><month>05</month><year>2008</year></date><date date-type="rev-recd"><day>01</day><month>08</month><year>2008</year></date><date date-type="accepted"><day>23</day><month>09</month><year>2008</year></date></history><permissions><copyright-statement>Copyright © 2009 Nature Publishing Group</copyright-statement><copyright-year>2009</copyright-year><copyright-holder>Nature Publishing Group</copyright-holder></permissions><abstract><p>The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the <italic>CUL7</italic> gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious <italic>CUL7</italic> mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a <italic>CUL7</italic> mutation. Lack of mutations in 10/33 cases and exclusion of the <italic>CUL7</italic> locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.</p></abstract><kwd-group><kwd><italic>CUL7</italic></kwd><kwd>paternal isodisomy of chromosome 6</kwd><kwd>genetic heterogeneity of 3M syndrome</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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