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Position effects at the FGF8 locus are associated with femoral hypoplasia.
Socha, Magdalena; Sowinska-Seidler, Anna; Melo, Uirá Souto; Kragesteen, Bjørt K; Franke, Martin; Heinrich, Verena; Schöpflin, Robert; Nagel, Inga; Gruchy, Nicolas; Mundlos, Stefan; Sreenivasan, Varun K A; López, Cristina; Vingron, Martin; Bukowska-Olech, Ewelina; Spielmann, Malte; Jamsheer, Aleksander.
Afiliación
  • Socha M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-806, Poland.
  • Sowinska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-806, Poland.
  • Melo US; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.
  • Kragesteen BK; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Department of Immunology, Weizmann Institute of Science, Rehovot 76100, Israel.
  • Franke M; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas/Universidad Pablo de Olavide, Seville 41013, Spain.
  • Heinrich V; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
  • Schöpflin R; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin 1419
  • Nagel I; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel 24105, Germany.
  • Gruchy N; Department of Genetics, EA7450 BioTARGen, Normandie Université, UNICAEN, CHU de Caen Normandie, Caen 14000, France.
  • Mundlos S; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, Berlin 13353,
  • Sreenivasan VKA; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Lübeck and University of Lübeck, Lübeck 23562, Germany.
  • López C; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Ciber de Cáncer, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain.
  • Vingron M; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany.
  • Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-806, Poland.
  • Spielmann M; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel 24105, Germany; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Lübeck and University of Lübeck, Lübeck 23562, Germany; Human Molecular Genomics Grou
  • Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-806, Poland; Centers for Medical Genetics GENESIS, Poznan 60-529, Poland. Electronic address: jamsheer@wp.pl.
Am J Hum Genet ; 108(9): 1725-1734, 2021 09 02.
Article en En | MEDLINE | ID: mdl-34433009
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 10 / Deformidades Congénitas de las Extremidades Inferiores / Factor 8 de Crecimiento de Fibroblastos / Variaciones en el Número de Copia de ADN / Duplicación Cromosómica Tipo de estudio: Risk_factors_studies Límite: Adolescent / Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Polonia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 10 / Deformidades Congénitas de las Extremidades Inferiores / Factor 8 de Crecimiento de Fibroblastos / Variaciones en el Número de Copia de ADN / Duplicación Cromosómica Tipo de estudio: Risk_factors_studies Límite: Adolescent / Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Polonia