NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

Tommerup, Niels; Fonseca, Ana Carolina; Mehrjouy, Mana; Rasmussen, Malene B.; Bache, Iben; Halgren, Christina; Kroisel, Peter; Midyan, Susanna; Vermeesch, Joris; Vianna-Morgante, Angela M.; Abe, Kikue T.; Moretti-Ferreira, Danilo [UNESP]; Paskulin, Giorgio; Angelova, Lyudmila; Rajcan-Separovic, Evica; Sismani, Carolina; Sedlacek, Zdenek; Fagerberg, Christina; Brondum-Nielsen, Karen; Vogel, Ida; Bojesen, Anders; Ounap, Katrin; Roht, Laura; Varilo, Teppo; Luukkonen, Tiia; Lespinasse, James; Beneteau, Claire; Kalscheuer, Vera M.; Ehmke, Nadja; Daumer-Haas, Cornelia; Stefanou, Eunice G.; Marta Czako; Kosztolanyi, Gyorgy; Sheth, Frenny; Zuffardi, Orsetta; Bonaglia, Clara; Novelli, Antonio; Fannemel, Madeleine; Dias, Patricia; Kokalj-Vokac, Nadja; Ramos-Arroyo, Maria A.; Rodriguez Martinez, Laura; Guitart, Miriam; Schinzel, Albert; Engelen, John; Silan, Fatma; Akkari, Yassmine; Batanian, Jacqueline R.; Kim, Hyung-Goo; Aristidou, Constantia; De Almeida, Cynthia; Lewis, Suzanne; Moreno-Igoa, Maria; Hovhannisyan, Anna; Jacky, Peter; Bak, Mads; Int Breakpoint Mapping Consortium

NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

Detalhes bibliográficos
Autor(a) principal:	Tommerup, Niels
Data de Publicação:	2017
Outros Autores:	Fonseca, Ana Carolina, Mehrjouy, Mana, Rasmussen, Malene B., Bache, Iben, Halgren, Christina, Kroisel, Peter, Midyan, Susanna, Vermeesch, Joris, Vianna-Morgante, Angela M., Abe, Kikue T., Moretti-Ferreira, Danilo [UNESP], Paskulin, Giorgio, Angelova, Lyudmila, Rajcan-Separovic, Evica, Sismani, Carolina, Sedlacek, Zdenek, Fagerberg, Christina, Brondum-Nielsen, Karen, Vogel, Ida, Bojesen, Anders, Ounap, Katrin, Roht, Laura, Varilo, Teppo, Luukkonen, Tiia, Lespinasse, James, Beneteau, Claire, Kalscheuer, Vera M., Ehmke, Nadja, Daumer-Haas, Cornelia, Stefanou, Eunice G., Marta Czako, Kosztolanyi, Gyorgy, Sheth, Frenny, Zuffardi, Orsetta, Bonaglia, Clara, Novelli, Antonio, Fannemel, Madeleine, Dias, Patricia, Kokalj-Vokac, Nadja, Ramos-Arroyo, Maria A., Rodriguez Martinez, Laura, Guitart, Miriam, Schinzel, Albert, Engelen, John, Silan, Fatma, Akkari, Yassmine, Batanian, Jacqueline R., Kim, Hyung-Goo, Aristidou, Constantia, De Almeida, Cynthia, Lewis, Suzanne, Moreno-Igoa, Maria, Hovhannisyan, Anna, Jacky, Peter, Bak, Mads, Int Breakpoint Mapping Consortium
Tipo de documento:	Artigo de conferência
Idioma:	eng
Título da fonte:	Repositório Institucional da UNESP
Texto Completo:	http://hdl.handle.net/11449/163278
Resumo:	Univ Copenhagen, Dept Cellular & Mol Med, Copenhagen, Denmark

Metadados do item

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network_acronym_str	UNSP
network_name_str	Repositório Institucional da UNESP
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spelling	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriersUniv Copenhagen, Dept Cellular & Mol Med, Copenhagen, DenmarkUniv Sao Paulo, Dept Genet &Biol Evolut, Sao Paulo, BrazilMed Univ Graz, Inst Humangenet, Graz, AustriaCtr Med Genet, Center Med Genet & Primary Hlth Care, Yerevan, ArmeniaUniv Leuven, Dept Human Genet, Leuven, BelgiumRede Sarah Hosp Reabilitacao, Brasilia, DF, BrazilSao Paulo State Univ, Dept Genet, Botucatu, SP, BrazilUnive Fed Ciencias Saude Porto Alegre, Genet Clin, Porto Alegre, RS, BrazilMed Univ Varna, Dept Med Genet, Varna, BulgariaChildrens & Womens Hlth Ctr Bc, Dept Pathol Cytogenet, Vancouver, BC, CanadaCyprus Inst Neurol & Genet, Dept Cytogenet & Genom, Nicosia, CyprusMotol Univ Hosp, Dept Biol & Med Genet, Prague, Czech RepublicOdense Univ Hosp, Klin Genet Afdeling, Odense, DenmarkRigshosp, Glostrup, DenmarkAarhus Univ Hosp, Klin Genet Afdeling, Aarhus, DenmarkVejle Hosp, Klin Genet Afdeling, Vejle, DenmarkTartu Univ Hosp, Dept Clin Genet, United Labs, Tartu, EstoniaUniv Helsinki, Haartman Inst, Helsinki, FinlandCtr Hosp Chambery, Uf Genet Chromosom Chambery, Chambery, FranceCHU Nantes, Serv Genet Med, Nantes, FranceMax Planck Inst Mol Genet, Res Grp Dev & Dis, Berlin, GermanyCharite Univ Med Berlin, Berlin, GermanyInst Med & Human Genet, Berlin Inst Hlth bih, Berlin, GermanyPranatal Med Munchen, Munich, GermanyUniv Gen Hosp Patras, Dept Pediat, Rion, GreeceUniv Pecs, Dept Med Genet, Pecs, HungaryInst Human Genet, Fdn Res Genet & Endocrinol Frige Inst, Ahmadabad, Gujarat, IndiaUniv Pavia, Dept Mol Med, Pavia, ItalyIrccs Eugenio Medea, Lab Cytogenet, Bosisio Parini, ItalyIrccs Bambino Gesu Childrens Hosp, Med Genet Dept, Rome, ItalyOslo Univ Hosp, Dept Med Genet, Oslo, NorwayCtr Hosp Lisboa Norte, Dept Genet, Lisbon, PortugalUniv Med Ctr Maribor, Lab Med Genet, Maribor, SloveniaComplejo Hosp Navarra, Serv Genet, Pamplona, SpainHosp Univ Hm Sanchinarro, Abacid Genet, Genet & Diagnost, Madrid, SpainCorp Sanitaria Parc Tauli, Lab Genet, Sabadell, SpainUniv Zurich, Inst Med Genet, Schlieren, SwitzerlandMaastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, NetherlandsCanakkale Onsekiz Mart Univ, Dept Med Genet, Canakkale, TurkeyLegacy Hlth Syst Cytogenet & Mol Pathol, Portland, OR USASt Louis Univ, Sch Med, Mol Cytogenet Lab, St Louis, MO USAAugusta Univ, Dept Neurosci & Regenerat Med, Augusta, GA USAMil Hosp Dnsffaa, Dept Genet, Montevideo, UruguayNw Permanente Pc, Portland, OR USASao Paulo State Univ, Dept Genet, Botucatu, SP, BrazilBiomed Central LtdUniv CopenhagenUniversidade de São Paulo (USP)Med Univ GrazCtr Med GenetUniv LeuvenRede Sarah Hosp ReabilitacaoUniversidade Estadual Paulista (Unesp)Unive Fed Ciencias Saude Porto AlegreMed Univ VarnaChildrens & Womens Hlth Ctr BcCyprus Inst Neurol & GenetMotol Univ HospOdense Univ HospRigshospAarhus Univ HospVejle HospTartu Univ HospUniv HelsinkiCtr Hosp ChamberyCHU NantesMax Planck Inst Mol GenetCharite Univ Med BerlinInst Med & Human GenetPranatal Med MunchenUniv Gen Hosp PatrasUniv PecsInst Human GenetUniv PaviaIrccs Eugenio MedeaIrccs Bambino Gesu Childrens HospOslo Univ HospCtr Hosp Lisboa NorteUniv Med Ctr MariborComplejo Hosp NavarraHosp Univ Hm SanchinarroCorp Sanitaria Parc TauliUniv ZurichMaastricht UnivCanakkale Onsekiz Mart UnivLegacy Hlth Syst Cytogenet & Mol PatholSt Louis UnivAugusta UnivMil Hosp DnsffaaNw Permanente PcTommerup, NielsFonseca, Ana CarolinaMehrjouy, ManaRasmussen, Malene B.Bache, IbenHalgren, ChristinaKroisel, PeterMidyan, SusannaVermeesch, JorisVianna-Morgante, Angela M.Abe, Kikue T.Moretti-Ferreira, Danilo [UNESP]Paskulin, GiorgioAngelova, LyudmilaRajcan-Separovic, EvicaSismani, CarolinaSedlacek, ZdenekFagerberg, ChristinaBrondum-Nielsen, KarenVogel, IdaBojesen, AndersOunap, KatrinRoht, LauraVarilo, TeppoLuukkonen, TiiaLespinasse, JamesBeneteau, ClaireKalscheuer, Vera M.Ehmke, NadjaDaumer-Haas, CorneliaStefanou, Eunice G.Marta CzakoKosztolanyi, GyorgySheth, FrennyZuffardi, OrsettaBonaglia, ClaraNovelli, AntonioFannemel, MadeleineDias, PatriciaKokalj-Vokac, NadjaRamos-Arroyo, Maria A.Rodriguez Martinez, LauraGuitart, MiriamSchinzel, AlbertEngelen, JohnSilan, FatmaAkkari, YassmineBatanian, Jacqueline R.Kim, Hyung-GooAristidou, ConstantiaDe Almeida, CynthiaLewis, SuzanneMoreno-Igoa, MariaHovhannisyan, AnnaJacky, PeterBak, MadsInt Breakpoint Mapping Consortium2018-11-26T17:40:47Z2018-11-26T17:40:47Z2017-06-29info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/conferenceObject1Molecular Cytogenetics. London: Biomed Central Ltd, v. 10, 1 p., 2017.1755-8166http://hdl.handle.net/11449/163278WOS:000410864800217Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengMolecular Cytogenetics0,623info:eu-repo/semantics/openAccess2021-10-23T16:22:58Zoai:repositorio.unesp.br:11449/163278Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T18:08:06.376556Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
title	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
spellingShingle	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers Tommerup, Niels
title_short	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
title_full	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
title_fullStr	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
title_full_unstemmed	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
title_sort	NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
author	Tommerup, Niels
author_facet	Tommerup, Niels Fonseca, Ana Carolina Mehrjouy, Mana Rasmussen, Malene B. Bache, Iben Halgren, Christina Kroisel, Peter Midyan, Susanna Vermeesch, Joris Vianna-Morgante, Angela M. Abe, Kikue T. Moretti-Ferreira, Danilo [UNESP] Paskulin, Giorgio Angelova, Lyudmila Rajcan-Separovic, Evica Sismani, Carolina Sedlacek, Zdenek Fagerberg, Christina Brondum-Nielsen, Karen Vogel, Ida Bojesen, Anders Ounap, Katrin Roht, Laura Varilo, Teppo Luukkonen, Tiia Lespinasse, James Beneteau, Claire Kalscheuer, Vera M. Ehmke, Nadja Daumer-Haas, Cornelia Stefanou, Eunice G. Marta Czako Kosztolanyi, Gyorgy Sheth, Frenny Zuffardi, Orsetta Bonaglia, Clara Novelli, Antonio Fannemel, Madeleine Dias, Patricia Kokalj-Vokac, Nadja Ramos-Arroyo, Maria A. Rodriguez Martinez, Laura Guitart, Miriam Schinzel, Albert Engelen, John Silan, Fatma Akkari, Yassmine Batanian, Jacqueline R. Kim, Hyung-Goo Aristidou, Constantia De Almeida, Cynthia Lewis, Suzanne Moreno-Igoa, Maria Hovhannisyan, Anna Jacky, Peter Bak, Mads Int Breakpoint Mapping Consortium
author_role	author
author2	Fonseca, Ana Carolina Mehrjouy, Mana Rasmussen, Malene B. Bache, Iben Halgren, Christina Kroisel, Peter Midyan, Susanna Vermeesch, Joris Vianna-Morgante, Angela M. Abe, Kikue T. Moretti-Ferreira, Danilo [UNESP] Paskulin, Giorgio Angelova, Lyudmila Rajcan-Separovic, Evica Sismani, Carolina Sedlacek, Zdenek Fagerberg, Christina Brondum-Nielsen, Karen Vogel, Ida Bojesen, Anders Ounap, Katrin Roht, Laura Varilo, Teppo Luukkonen, Tiia Lespinasse, James Beneteau, Claire Kalscheuer, Vera M. Ehmke, Nadja Daumer-Haas, Cornelia Stefanou, Eunice G. Marta Czako Kosztolanyi, Gyorgy Sheth, Frenny Zuffardi, Orsetta Bonaglia, Clara Novelli, Antonio Fannemel, Madeleine Dias, Patricia Kokalj-Vokac, Nadja Ramos-Arroyo, Maria A. Rodriguez Martinez, Laura Guitart, Miriam Schinzel, Albert Engelen, John Silan, Fatma Akkari, Yassmine Batanian, Jacqueline R. Kim, Hyung-Goo Aristidou, Constantia De Almeida, Cynthia Lewis, Suzanne Moreno-Igoa, Maria Hovhannisyan, Anna Jacky, Peter Bak, Mads Int Breakpoint Mapping Consortium
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Univ Copenhagen Universidade de São Paulo (USP) Med Univ Graz Ctr Med Genet Univ Leuven Rede Sarah Hosp Reabilitacao Universidade Estadual Paulista (Unesp) Unive Fed Ciencias Saude Porto Alegre Med Univ Varna Childrens & Womens Hlth Ctr Bc Cyprus Inst Neurol & Genet Motol Univ Hosp Odense Univ Hosp Rigshosp Aarhus Univ Hosp Vejle Hosp Tartu Univ Hosp Univ Helsinki Ctr Hosp Chambery CHU Nantes Max Planck Inst Mol Genet Charite Univ Med Berlin Inst Med & Human Genet Pranatal Med Munchen Univ Gen Hosp Patras Univ Pecs Inst Human Genet Univ Pavia Irccs Eugenio Medea Irccs Bambino Gesu Childrens Hosp Oslo Univ Hosp Ctr Hosp Lisboa Norte Univ Med Ctr Maribor Complejo Hosp Navarra Hosp Univ Hm Sanchinarro Corp Sanitaria Parc Tauli Univ Zurich Maastricht Univ Canakkale Onsekiz Mart Univ Legacy Hlth Syst Cytogenet & Mol Pathol St Louis Univ Augusta Univ Mil Hosp Dnsffaa Nw Permanente Pc
dc.contributor.author.fl_str_mv	Tommerup, Niels Fonseca, Ana Carolina Mehrjouy, Mana Rasmussen, Malene B. Bache, Iben Halgren, Christina Kroisel, Peter Midyan, Susanna Vermeesch, Joris Vianna-Morgante, Angela M. Abe, Kikue T. Moretti-Ferreira, Danilo [UNESP] Paskulin, Giorgio Angelova, Lyudmila Rajcan-Separovic, Evica Sismani, Carolina Sedlacek, Zdenek Fagerberg, Christina Brondum-Nielsen, Karen Vogel, Ida Bojesen, Anders Ounap, Katrin Roht, Laura Varilo, Teppo Luukkonen, Tiia Lespinasse, James Beneteau, Claire Kalscheuer, Vera M. Ehmke, Nadja Daumer-Haas, Cornelia Stefanou, Eunice G. Marta Czako Kosztolanyi, Gyorgy Sheth, Frenny Zuffardi, Orsetta Bonaglia, Clara Novelli, Antonio Fannemel, Madeleine Dias, Patricia Kokalj-Vokac, Nadja Ramos-Arroyo, Maria A. Rodriguez Martinez, Laura Guitart, Miriam Schinzel, Albert Engelen, John Silan, Fatma Akkari, Yassmine Batanian, Jacqueline R. Kim, Hyung-Goo Aristidou, Constantia De Almeida, Cynthia Lewis, Suzanne Moreno-Igoa, Maria Hovhannisyan, Anna Jacky, Peter Bak, Mads Int Breakpoint Mapping Consortium
description	Univ Copenhagen, Dept Cellular & Mol Med, Copenhagen, Denmark
publishDate	2017
dc.date.none.fl_str_mv	2017-06-29 2018-11-26T17:40:47Z 2018-11-26T17:40:47Z
dc.type.status.fl_str_mv	info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv	info:eu-repo/semantics/conferenceObject
format	conferenceObject
status_str	publishedVersion
dc.identifier.uri.fl_str_mv	Molecular Cytogenetics. London: Biomed Central Ltd, v. 10, 1 p., 2017. 1755-8166 http://hdl.handle.net/11449/163278 WOS:000410864800217
identifier_str_mv	Molecular Cytogenetics. London: Biomed Central Ltd, v. 10, 1 p., 2017. 1755-8166 WOS:000410864800217
url	http://hdl.handle.net/11449/163278
dc.language.iso.fl_str_mv	eng
language	eng
dc.relation.none.fl_str_mv	Molecular Cytogenetics 0,623
dc.rights.driver.fl_str_mv	info:eu-repo/semantics/openAccess
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	1
dc.publisher.none.fl_str_mv	Biomed Central Ltd
publisher.none.fl_str_mv	Biomed Central Ltd
dc.source.none.fl_str_mv	Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP
instname_str	Universidade Estadual Paulista (UNESP)
instacron_str	UNESP
institution	UNESP
reponame_str	Repositório Institucional da UNESP
collection	Repositório Institucional da UNESP
repository.name.fl_str_mv	Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
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NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

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