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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Szafranski, Przemyslaw; Kosmider, Ewelina; Liu, Qian; Karolak, Justyna A; Currie, Lauren; Parkash, Sandhya; Kahler, Stephen G; Roeder, Elizabeth; Littlejohn, Rebecca O; DeNapoli, Thomas S; Shardonofsky, Felix R; Henderson, Cody; Powers, George; Poisson, Virginie; Bérubé, Denis; Oligny, Luc; Michaud, Jacques L; Janssens, Sandra; De Coen, Kris; Van Dorpe, Jo; Dheedene, Annelies; Harting, Matthew T; Weaver, Matthew D; Khan, Amir M; Tatevian, Nina; Wambach, Jennifer; Gibbs, Kathleen A; Popek, Edwina; Gambin, Anna; Stankiewicz, Pawel.
Afiliación
  • Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Kosmider E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Liu Q; Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, Warsaw, Poland.
  • Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Currie L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Parkash S; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.
  • Kahler SG; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Canada.
  • Roeder E; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Canada.
  • Littlejohn RO; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • DeNapoli TS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Shardonofsky FR; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • Henderson C; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • Powers G; Department of Pathology, Children's Hospital of San Antonio, San Antonio, Texas.
  • Poisson V; Pediatric Pulmonary Center, Children's Hospital of San Antonio, San Antonio, Texas.
  • Bérubé D; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • Oligny L; Neonatal-Perinatal Medicine, Children's Hospital of San Antonio, San Antonio, Texas.
  • Michaud JL; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.
  • Janssens S; Neonatal-Perinatal Medicine, Children's Hospital of San Antonio, San Antonio, Texas.
  • De Coen K; CHU Sainte-Justine, Montreal, Canada.
  • Van Dorpe J; CHU Sainte-Justine, Montreal, Canada.
  • Dheedene A; CHU Sainte-Justine, Montreal, Canada.
  • Harting MT; CHU Sainte-Justine, Montreal, Canada.
  • Weaver MD; Center for Medical Genetics, Ghent University, Ghent, Belgium.
  • Khan AM; Department of Neonatal Intensive Care, Ghent University, Ghent, Belgium.
  • Tatevian N; Department of Pathology, Ghent University, Ghent, Belgium.
  • Wambach J; Center for Medical Genetics, Ghent University, Ghent, Belgium.
  • Gibbs KA; McGovern Medical School at UTHealth, Houston, Texas.
  • Popek E; McGovern Medical School at UTHealth, Houston, Texas.
  • Gambin A; McGovern Medical School at UTHealth, Houston, Texas.
  • Stankiewicz P; McGovern Medical School at UTHealth, Houston, Texas.
Hum Mutat ; 39(12): 1916-1925, 2018 12.
Article en En | MEDLINE | ID: mdl-30084155
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente / Cromosomas Humanos Par 16 / Inestabilidad Genómica / Variaciones en el Número de Copia de ADN Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente / Cromosomas Humanos Par 16 / Inestabilidad Genómica / Variaciones en el Número de Copia de ADN Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos