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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Dharmadhikari, Avinash V; Gambin, Tomasz; Szafranski, Przemyslaw; Cao, Wenjian; Probst, Frank J; Jin, Weihong; Fang, Ping; Gogolewski, Krzysztof; Gambin, Anna; George-Abraham, Jaya K; Golla, Sailaja; Boidein, Francoise; Duban-Bedu, Benedicte; Delobel, Bruno; Andrieux, Joris; Becker, Kerstin; Holinski-Feder, Elke; Cheung, Sau Wai; Stankiewicz, Pawel.
Afiliación
  • Dharmadhikari AV; Interdepartmental Program in Translational Biology & Molecular Medicine, Baylor College of Medicine, Houston, TX, USA. dharmadh@bcm.edu.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. dharmadh@bcm.edu.
  • Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. Tomasz.Gambin@bcm.edu.
  • Cao W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. pszafran@bcm.edu.
  • Probst FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. Wenjian.Cao@bcm.edu.
  • Jin W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. Frank.Probst@bcm.edu.
  • Fang P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. wjin@bcm.edu.
  • Gogolewski K; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. pfang@bcm.edu.
  • Gambin A; Institute of Informatics, University of Warsaw, Warsaw, Poland. k.gogolewski@mimuw.edu.pl.
  • George-Abraham JK; Institute of Informatics, University of Warsaw, Warsaw, Poland. aniag@mimuw.edu.pl.
  • Golla S; Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland. aniag@mimuw.edu.pl.
  • Boidein F; Specially for Children, Dell's Children's Medical Center, Austin, TX, USA. JKGeorge-Abraham@seton.org.
  • Duban-Bedu B; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA. Sailaja.Golla@UTSouthwestern.edu.
  • Delobel B; Neuropediatrics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France. Boidein.Francoise@ghicl.net.
  • Andrieux J; Cytogenetics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France. Duban-Bedu.Benedicte@ghicl.net.
  • Becker K; Cytogenetics Service, Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France. Delobel.Bruno@ghicl.net.
  • Holinski-Feder E; Laboratory of Medical Genetics, University Hospital, Lille, France. joris.andrieux@chru-lille.fr.
  • Cheung SW; Medical Genetics Center, Munich, Germany. kerstin.becker@mgz-muenchen.de.
  • Stankiewicz P; Medical Genetics Center, Munich, Germany. Elke.Holinski-Feder@mgz-muenchen.de.
BMC Med Genet ; 15: 128, 2014 Dec 04.
Article en En | MEDLINE | ID: mdl-25472632

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 16 / Duplicación de Gen / Factores de Transcripción Forkhead Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 16 / Duplicación de Gen / Factores de Transcripción Forkhead Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos