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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T; Monaghan, Kristin G; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C; Stegmann, Alexander P A; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O; Chapman, Gavin; Pachter, Nicholas S; Winlaw, David S; Mendelsohn, Bryce A; Dalton, Joline; Sarafoglou, Kyriakie; Karachunski, Peter I; Lewis, Jane M; Pedro, Helio; Dunwoodie, Sally L; Selleri, Licia; Shieh, Joseph.
Affiliation
  • Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
  • Risolino M; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Losa M; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Cho MT; Program in Craniofacial Biology, Departments of Orofacial Sciences and Anatomy, University of California San Francisco, San Francisco, CA, USA.
  • Monaghan KG; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Schneidman-Duhovny D; Program in Craniofacial Biology, Departments of Orofacial Sciences and Anatomy, University of California San Francisco, San Francisco, CA, USA.
  • Parisotto S; GeneDx, Gaithersburg, MD, USA.
  • Herkert JC; GeneDx, Gaithersburg, MD, USA.
  • Stegmann APA; School of Computer Science and Engineering, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Miller K; Department of Biochemistry, Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Shur N; Division of Genetics, Department of Pediatrics, Hackensack University Medical Center, Hackensack, NJ, USA.
  • Chui J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Muller E; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • DeBrosse S; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands.
  • Szot JO; Department of Pediatrics, Albany Medical Center, Albany, NY, USA.
  • Chapman G; Department of Pediatrics, Albany Medical Center, Albany, NY, USA.
  • Pachter NS; Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA, USA.
  • Winlaw DS; Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA, USA.
  • Mendelsohn BA; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
  • Dalton J; Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.
  • Sarafoglou K; University of New South Wales, Sydney, NSW, Australia.
  • Karachunski PI; Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.
  • Lewis JM; University of New South Wales, Sydney, NSW, Australia.
  • Pedro H; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.
  • Dunwoodie SL; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
  • Selleri L; University of Sydney, Medical School, Sydney, NSW, Australia.
  • Shieh J; Heart Centre for Children, Children's Hospital at Westmead, Sydney, NSW, Australia.
Hum Mol Genet ; 26(24): 4849-4860, 2017 12 15.
Article in En | MEDLINE | ID: mdl-29036646
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Full text: 1 Database: MEDLINE Main subject: Pre-B-Cell Leukemia Transcription Factor 1 / Intellectual Disability Type of study: Risk_factors_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Year: 2017 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Pre-B-Cell Leukemia Transcription Factor 1 / Intellectual Disability Type of study: Risk_factors_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Year: 2017 Type: Article