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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling</title><author><name sortKey="Eggermann, Thomas" sort="Eggermann, Thomas" uniqKey="Eggermann T" first="Thomas" last="Eggermann">Thomas Eggermann</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Brioude, Frederic" sort="Brioude, Frederic" uniqKey="Brioude F" first="Frédéric" last="Brioude">Frédéric Brioude</name><affiliation><nlm:aff id="aff2"><institution>INSERM, UMR_S 938</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Sorbonne Universities, UPMC Univ Paris 06</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Armand Trousseau Hospital, Pediatric Endocrinology</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Russo, Silvia" sort="Russo, Silvia" uniqKey="Russo S" first="Silvia" last="Russo">Silvia Russo</name><affiliation><nlm:aff id="aff5"><institution>Laboratory of Cytogenetics and Molecular Genetics Istituto Auxologico Italiano IRCCS</institution>, Milano,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Lombardi, Maria P" sort="Lombardi, Maria P" uniqKey="Lombardi M" first="Maria P" last="Lombardi">Maria P. Lombardi</name><affiliation><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Bliek, Jet" sort="Bliek, Jet" uniqKey="Bliek J" first="Jet" last="Bliek">Jet Bliek</name><affiliation><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name><affiliation><nlm:aff id="aff7"><institution>Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre</institution>, Cambridge,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Larizza, Lidia" sort="Larizza, Lidia" uniqKey="Larizza L" first="Lidia" last="Larizza">Lidia Larizza</name><affiliation><nlm:aff id="aff5"><institution>Laboratory of Cytogenetics and Molecular Genetics Istituto Auxologico Italiano IRCCS</institution>, Milano,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Prawitt, Dirk" sort="Prawitt, Dirk" uniqKey="Prawitt D" first="Dirk" last="Prawitt">Dirk Prawitt</name><affiliation><nlm:aff id="aff8"><institution>Center for Pediatrics and Adolescent Medicine, University Medical Center</institution>, Mainz,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name><affiliation><nlm:aff id="aff2"><institution>INSERM, UMR_S 938</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Sorbonne Universities, UPMC Univ Paris 06</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Armand Trousseau Hospital, Pediatric Endocrinology</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name><affiliation><nlm:aff id="aff9"><institution>Department of Medical Genetics, Armand Trousseau Hospital, AP-HP</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>Sorbonne Universitie, UPMC Univ Paris 06</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gr Nskov, Karen" sort="Gr Nskov, Karen" uniqKey="Gr Nskov K" first="Karen" last="Gr Nskov">Karen Gr Nskov</name><affiliation><nlm:aff id="aff11"><institution>Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital</institution>, Glostrup,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Tumer, Zeynep" sort="Tumer, Zeynep" uniqKey="Tumer Z" first="Zeynep" last="Tümer">Zeynep Tümer</name><affiliation><nlm:aff id="aff11"><institution>Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital</institution>, Glostrup,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Monk, David" sort="Monk, David" uniqKey="Monk D" first="David" last="Monk">David Monk</name><affiliation><nlm:aff id="aff12"><institution>Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL)</institution>, Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Mannens, Marcel" sort="Mannens, Marcel" uniqKey="Mannens M" first="Marcel" last="Mannens">Marcel Mannens</name><affiliation><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Chrzanowska, Krystyna" sort="Chrzanowska, Krystyna" uniqKey="Chrzanowska K" first="Krystyna" last="Chrzanowska">Krystyna Chrzanowska</name><affiliation><nlm:aff id="aff13"><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>, Warsaw,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Walasek, Malgorzata K" sort="Walasek, Malgorzata K" uniqKey="Walasek M" first="Malgorzata K" last="Walasek">Malgorzata K. Walasek</name><affiliation><nlm:aff id="aff13"><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>, Warsaw,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Begemann, Matthias" sort="Begemann, Matthias" uniqKey="Begemann M" first="Matthias" last="Begemann">Matthias Begemann</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Soellner, Lukas" sort="Soellner, Lukas" uniqKey="Soellner L" first="Lukas" last="Soellner">Lukas Soellner</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Eggermann, Katja" sort="Eggermann, Katja" uniqKey="Eggermann K" first="Katja" last="Eggermann">Katja Eggermann</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Tenorio, Jair" sort="Tenorio, Jair" uniqKey="Tenorio J" first="Jair" last="Tenorio">Jair Tenorio</name><affiliation><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Nevado, Julian" sort="Nevado, Julian" uniqKey="Nevado J" first="Julián" last="Nevado">Julián Nevado</name><affiliation><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Moore, Gudrun E" sort="Moore, Gudrun E" uniqKey="Moore G" first="Gudrun E" last="Moore">Gudrun E. Moore</name><affiliation><nlm:aff id="aff16"><institution>Fetal Growth and Developmental group, Genetics and Genomic Medicine Programme, UCL-ICH</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mackay, Deborah Jg" sort="Mackay, Deborah Jg" uniqKey="Mackay D" first="Deborah Jg" last="Mackay">Deborah Jg Mackay</name><affiliation><nlm:aff id="aff17"><institution>Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampto; Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Temple, Karen" sort="Temple, Karen" uniqKey="Temple K" first="Karen" last="Temple">Karen Temple</name><affiliation><nlm:aff id="aff17"><institution>Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampto; Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</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="aff18"><institution>Institut für Humangenetik, Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Ogata, Tsutomu" sort="Ogata, Tsutomu" uniqKey="Ogata T" first="Tsutomu" last="Ogata">Tsutomu Ogata</name><affiliation><nlm:aff id="aff19"><institution>Department of Pediatrics, Hamamatsu University School of Medicine</institution>, Hamamastu,<country>Japan</country></nlm:aff></affiliation></author><author><name sortKey="Weksberg, Rosanna" sort="Weksberg, Rosanna" uniqKey="Weksberg R" first="Rosanna" last="Weksberg">Rosanna Weksberg</name><affiliation><nlm:aff id="aff20"><institution>Program in Genetics and Genome Biology, The Hospital for Sick Children</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Department of Molecular Genetics, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff23"><institution>Institute of Medical Science, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff24"><institution>Department of Pediatrics, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation></author><author><name sortKey="Algar, Elizabeth" sort="Algar, Elizabeth" uniqKey="Algar E" first="Elizabeth" last="Algar">Elizabeth Algar</name><affiliation><nlm:aff id="aff25"><institution>Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute</institution>, Clayton, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name><affiliation><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26508573</idno><idno type="pmc">4867462</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867462</idno><idno type="RBID">PMC:4867462</idno><idno type="doi">10.1038/ejhg.2015.224</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000885</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000885</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling</title><author><name sortKey="Eggermann, Thomas" sort="Eggermann, Thomas" uniqKey="Eggermann T" first="Thomas" last="Eggermann">Thomas Eggermann</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Brioude, Frederic" sort="Brioude, Frederic" uniqKey="Brioude F" first="Frédéric" last="Brioude">Frédéric Brioude</name><affiliation><nlm:aff id="aff2"><institution>INSERM, UMR_S 938</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Sorbonne Universities, UPMC Univ Paris 06</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Armand Trousseau Hospital, Pediatric Endocrinology</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Russo, Silvia" sort="Russo, Silvia" uniqKey="Russo S" first="Silvia" last="Russo">Silvia Russo</name><affiliation><nlm:aff id="aff5"><institution>Laboratory of Cytogenetics and Molecular Genetics Istituto Auxologico Italiano IRCCS</institution>, Milano,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Lombardi, Maria P" sort="Lombardi, Maria P" uniqKey="Lombardi M" first="Maria P" last="Lombardi">Maria P. Lombardi</name><affiliation><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Bliek, Jet" sort="Bliek, Jet" uniqKey="Bliek J" first="Jet" last="Bliek">Jet Bliek</name><affiliation><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name><affiliation><nlm:aff id="aff7"><institution>Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre</institution>, Cambridge,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Larizza, Lidia" sort="Larizza, Lidia" uniqKey="Larizza L" first="Lidia" last="Larizza">Lidia Larizza</name><affiliation><nlm:aff id="aff5"><institution>Laboratory of Cytogenetics and Molecular Genetics Istituto Auxologico Italiano IRCCS</institution>, Milano,<country>Italy</country></nlm:aff></affiliation></author><author><name sortKey="Prawitt, Dirk" sort="Prawitt, Dirk" uniqKey="Prawitt D" first="Dirk" last="Prawitt">Dirk Prawitt</name><affiliation><nlm:aff id="aff8"><institution>Center for Pediatrics and Adolescent Medicine, University Medical Center</institution>, Mainz,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name><affiliation><nlm:aff id="aff2"><institution>INSERM, UMR_S 938</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Sorbonne Universities, UPMC Univ Paris 06</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"><institution>Armand Trousseau Hospital, Pediatric Endocrinology</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name><affiliation><nlm:aff id="aff9"><institution>Department of Medical Genetics, Armand Trousseau Hospital, AP-HP</institution>, Paris,<country>France</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>Sorbonne Universitie, UPMC Univ Paris 06</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Gr Nskov, Karen" sort="Gr Nskov, Karen" uniqKey="Gr Nskov K" first="Karen" last="Gr Nskov">Karen Gr Nskov</name><affiliation><nlm:aff id="aff11"><institution>Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital</institution>, Glostrup,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Tumer, Zeynep" sort="Tumer, Zeynep" uniqKey="Tumer Z" first="Zeynep" last="Tümer">Zeynep Tümer</name><affiliation><nlm:aff id="aff11"><institution>Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital</institution>, Glostrup,<country>Denmark</country></nlm:aff></affiliation></author><author><name sortKey="Monk, David" sort="Monk, David" uniqKey="Monk D" first="David" last="Monk">David Monk</name><affiliation><nlm:aff id="aff12"><institution>Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL)</institution>, Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Mannens, Marcel" sort="Mannens, Marcel" uniqKey="Mannens M" first="Marcel" last="Mannens">Marcel Mannens</name><affiliation><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></nlm:aff></affiliation></author><author><name sortKey="Chrzanowska, Krystyna" sort="Chrzanowska, Krystyna" uniqKey="Chrzanowska K" first="Krystyna" last="Chrzanowska">Krystyna Chrzanowska</name><affiliation><nlm:aff id="aff13"><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>, Warsaw,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Walasek, Malgorzata K" sort="Walasek, Malgorzata K" uniqKey="Walasek M" first="Malgorzata K" last="Walasek">Malgorzata K. Walasek</name><affiliation><nlm:aff id="aff13"><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>, Warsaw,<country>Poland</country></nlm:aff></affiliation></author><author><name sortKey="Begemann, Matthias" sort="Begemann, Matthias" uniqKey="Begemann M" first="Matthias" last="Begemann">Matthias Begemann</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Soellner, Lukas" sort="Soellner, Lukas" uniqKey="Soellner L" first="Lukas" last="Soellner">Lukas Soellner</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Eggermann, Katja" sort="Eggermann, Katja" uniqKey="Eggermann K" first="Katja" last="Eggermann">Katja Eggermann</name><affiliation><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Tenorio, Jair" sort="Tenorio, Jair" uniqKey="Tenorio J" first="Jair" last="Tenorio">Jair Tenorio</name><affiliation><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Nevado, Julian" sort="Nevado, Julian" uniqKey="Nevado J" first="Julián" last="Nevado">Julián Nevado</name><affiliation><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Moore, Gudrun E" sort="Moore, Gudrun E" uniqKey="Moore G" first="Gudrun E" last="Moore">Gudrun E. Moore</name><affiliation><nlm:aff id="aff16"><institution>Fetal Growth and Developmental group, Genetics and Genomic Medicine Programme, UCL-ICH</institution>, London,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Mackay, Deborah Jg" sort="Mackay, Deborah Jg" uniqKey="Mackay D" first="Deborah Jg" last="Mackay">Deborah Jg Mackay</name><affiliation><nlm:aff id="aff17"><institution>Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampto; Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</country></nlm:aff></affiliation></author><author><name sortKey="Temple, Karen" sort="Temple, Karen" uniqKey="Temple K" first="Karen" last="Temple">Karen Temple</name><affiliation><nlm:aff id="aff17"><institution>Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampto; Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</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="aff18"><institution>Institut für Humangenetik, Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></nlm:aff></affiliation></author><author><name sortKey="Ogata, Tsutomu" sort="Ogata, Tsutomu" uniqKey="Ogata T" first="Tsutomu" last="Ogata">Tsutomu Ogata</name><affiliation><nlm:aff id="aff19"><institution>Department of Pediatrics, Hamamatsu University School of Medicine</institution>, Hamamastu,<country>Japan</country></nlm:aff></affiliation></author><author><name sortKey="Weksberg, Rosanna" sort="Weksberg, Rosanna" uniqKey="Weksberg R" first="Rosanna" last="Weksberg">Rosanna Weksberg</name><affiliation><nlm:aff id="aff20"><institution>Program in Genetics and Genome Biology, The Hospital for Sick Children</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Department of Molecular Genetics, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff23"><institution>Institute of Medical Science, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff24"><institution>Department of Pediatrics, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></nlm:aff></affiliation></author><author><name sortKey="Algar, Elizabeth" sort="Algar, Elizabeth" uniqKey="Algar E" first="Elizabeth" last="Algar">Elizabeth Algar</name><affiliation><nlm:aff id="aff25"><institution>Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute</institution>, Clayton, Victoria,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name><affiliation><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>, Madrid,<country>Spain</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>, Madrid,<country>Spain</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="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; <ext-link ext-link-type="uri" xlink:href="http://www.imprinting-disorders.eu">www.imprinting-disorders.eu</ext-link>), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.</p></div></front></TEI><pmc article-type="review-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">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">26508573</article-id><article-id pub-id-type="pmc">4867462</article-id><article-id pub-id-type="pii">ejhg2015224</article-id><article-id pub-id-type="doi">10.1038/ejhg.2015.224</article-id><article-categories><subj-group subj-group-type="heading"><subject>Review</subject></subj-group></article-categories><title-group><article-title>Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling</article-title><alt-title alt-title-type="running">Prenatal testing in Silver–Russell and Beckwith–Wiedemann syndrome</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Eggermann</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="author-notes" rid="note1"><sup>26</sup></xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><contrib contrib-type="author"><name><surname>Brioude</surname><given-names>Frédéric</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref><xref ref-type="author-notes" rid="note1"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Russo</surname><given-names>Silvia</given-names></name><xref ref-type="aff" rid="aff5">5</xref><xref ref-type="author-notes" rid="note1"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Lombardi</surname><given-names>Maria P</given-names></name><xref ref-type="aff" rid="aff6">6</xref><xref ref-type="author-notes" rid="note1"><sup>26</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bliek</surname><given-names>Jet</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Maher</surname><given-names>Eamonn R</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Larizza</surname><given-names>Lidia</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Prawitt</surname><given-names>Dirk</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Netchine</surname><given-names>Irène</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Gonzales</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="aff9">9</xref><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Grønskov</surname><given-names>Karen</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>Tümer</surname><given-names>Zeynep</given-names></name><xref ref-type="aff" rid="aff11">11</xref></contrib><contrib contrib-type="author"><name><surname>Monk</surname><given-names>David</given-names></name><xref ref-type="aff" rid="aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Mannens</surname><given-names>Marcel</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Chrzanowska</surname><given-names>Krystyna</given-names></name><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Walasek</surname><given-names>Malgorzata K</given-names></name><xref ref-type="aff" rid="aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Begemann</surname><given-names>Matthias</given-names></name><xref ref-type="aff" rid="aff1">1</xref><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-4659-8437</contrib-id></contrib><contrib contrib-type="author"><name><surname>Soellner</surname><given-names>Lukas</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Eggermann</surname><given-names>Katja</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Tenorio</surname><given-names>Jair</given-names></name><xref ref-type="aff" rid="aff14">14</xref><xref ref-type="aff" rid="aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Nevado</surname><given-names>Julián</given-names></name><xref ref-type="aff" rid="aff14">14</xref><xref ref-type="aff" rid="aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Gudrun E</given-names></name><xref ref-type="aff" rid="aff16">16</xref></contrib><contrib contrib-type="author"><name><surname>Mackay</surname><given-names>Deborah JG</given-names></name><xref ref-type="aff" rid="aff17">17</xref></contrib><contrib contrib-type="author"><name><surname>Temple</surname><given-names>Karen</given-names></name><xref ref-type="aff" rid="aff17">17</xref></contrib><contrib contrib-type="author"><name><surname>Gillessen-Kaesbach</surname><given-names>Gabriele</given-names></name><xref ref-type="aff" rid="aff18">18</xref></contrib><contrib contrib-type="author"><name><surname>Ogata</surname><given-names>Tsutomu</given-names></name><xref ref-type="aff" rid="aff19">19</xref></contrib><contrib contrib-type="author"><name><surname>Weksberg</surname><given-names>Rosanna</given-names></name><xref ref-type="aff" rid="aff20">20</xref><xref ref-type="aff" rid="aff21">21</xref><xref ref-type="aff" rid="aff22">22</xref><xref ref-type="aff" rid="aff23">23</xref><xref ref-type="aff" rid="aff24">24</xref></contrib><contrib contrib-type="author"><name><surname>Algar</surname><given-names>Elizabeth</given-names></name><xref ref-type="aff" rid="aff25">25</xref></contrib><contrib contrib-type="author"><name><surname>Lapunzina</surname><given-names>Pablo</given-names></name><xref ref-type="aff" rid="aff14">14</xref><xref ref-type="aff" rid="aff15">15</xref></contrib><aff id="aff1"><label>1</label><institution>Institut für Humangenetik, RWTH University Aachen</institution>, Aachen,<country>Germany</country></aff><aff id="aff2"><label>2</label><institution>INSERM, UMR_S 938</institution>, Paris,<country>France</country></aff><aff id="aff3"><label>3</label><institution>Sorbonne Universities, UPMC Univ Paris 06</institution>, Paris,<country>France</country></aff><aff id="aff4"><label>4</label><institution>Armand Trousseau Hospital, Pediatric Endocrinology</institution>, Paris,<country>France</country></aff><aff id="aff5"><label>5</label><institution>Laboratory of Cytogenetics and Molecular Genetics Istituto Auxologico Italiano IRCCS</institution>, Milano,<country>Italy</country></aff><aff id="aff6"><label>6</label><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>, Amsterdam,<country>The Netherlands</country></aff><aff id="aff7"><label>7</label><institution>Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre</institution>, Cambridge,<country>UK</country></aff><aff id="aff8"><label>8</label><institution>Center for Pediatrics and Adolescent Medicine, University Medical Center</institution>, Mainz,<country>Germany</country></aff><aff id="aff9"><label>9</label><institution>Department of Medical Genetics, Armand Trousseau Hospital, AP-HP</institution>, Paris,<country>France</country></aff><aff id="aff10"><label>10</label><institution>Sorbonne Universitie, UPMC Univ Paris 06</institution>, Paris,<country>France</country></aff><aff id="aff11"><label>11</label><institution>Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital</institution>, Glostrup,<country>Denmark</country></aff><aff id="aff12"><label>12</label><institution>Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL)</institution>, Barcelona,<country>Spain</country></aff><aff id="aff13"><label>13</label><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>, Warsaw,<country>Poland</country></aff><aff id="aff14"><label>14</label><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>, Madrid,<country>Spain</country></aff><aff id="aff15"><label>15</label><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>, Madrid,<country>Spain</country></aff><aff id="aff16"><label>16</label><institution>Fetal Growth and Developmental group, Genetics and Genomic Medicine Programme, UCL-ICH</institution>, London,<country>UK</country></aff><aff id="aff17"><label>17</label><institution>Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampto; Wessex Clinical Genetics Service, Princess Anne Hospital</institution>, Southampton,<country>UK</country></aff><aff id="aff18"><label>18</label><institution>Institut für Humangenetik, Universität zu Lübeck</institution>, Lübeck,<country>Germany</country></aff><aff id="aff19"><label>19</label><institution>Department of Pediatrics, Hamamatsu University School of Medicine</institution>, Hamamastu,<country>Japan</country></aff><aff id="aff20"><label>20</label><institution>Program in Genetics and Genome Biology, The Hospital for Sick Children</institution>, Toronto, Ontario,<country>Canada</country></aff><aff id="aff21"><label>21</label><institution>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children</institution>, Toronto, Ontario,<country>Canada</country></aff><aff id="aff22"><label>22</label><institution>Department of Molecular Genetics, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></aff><aff id="aff23"><label>23</label><institution>Institute of Medical Science, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></aff><aff id="aff24"><label>24</label><institution>Department of Pediatrics, University of Toronto</institution>, Toronto, Ontario,<country>Canada</country></aff><aff id="aff25"><label>25</label><institution>Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute</institution>, Clayton, Victoria,<country>Australia</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Institute of Human Genetics, University Hospital, RWTH Aachen</institution>, Pauwelsstr. 30, Aachen 52074, <country>Germany</country>. Tel: +49 241 8088008; Fax: +49 214 8082394; E-mail: <email>teggermann@ukaachen.de</email></corresp><fn fn-type="present-address" id="note1"><label>26</label><p>These authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>06</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>28</day><month>10</month><year>2015</year></pub-date><volume>24</volume><issue>6</issue><fpage>784</fpage><lpage>793</lpage><history><date date-type="received"><day>15</day><month>07</month><year>2015</year></date><date date-type="rev-recd"><day>03</day><month>09</month><year>2015</year></date><date date-type="accepted"><day>11</day><month>09</month><year>2015</year></date></history><permissions><copyright-statement>Copyright © 2016 Macmillan Publishers Limited</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; <ext-link ext-link-type="uri" xlink:href="http://www.imprinting-disorders.eu">www.imprinting-disorders.eu</ext-link>), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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