Your browser doesn't support javascript.
loading
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz, Pawel; Khan, Tahir N; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A; Brown, Chester W; Rosenfeld, Jill A; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L; Parsons, Donald W; Plon, Sharon E; Vieira, Marta W; Quaio, Caio R D C; Baratela, Wagner A R; Acosta Guio, Johanna C; Armstrong, Ruth; Mehta, Sarju G; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M; Shinde, Deepali N; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, André; Bacino, Carlos A; Xiao, Rui; Breman, Amy M; Smith, Janice L; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E; Yang, Yaping.
Affiliation
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: pawels@bcm.edu.
  • Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Slattery L; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA 94305, USA.
  • Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Vetrini F; Baylor Genetics, Houston, TX 77021, USA.
  • Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA 94305, USA.
  • Brown CW; University of Tennessee Health Science Center, Memphis, TN 38163, USA; Le Bonheur Children's Hospital, Memphis, TN 38105, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
  • Rednam S; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Scollon S; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Bergstrom KL; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
  • Parsons DW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 7703
  • Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 7703
  • Vieira MW; PUCSP, Faculdade de Ciências Médicas e da Saúde, São Paulo 01221-020, Brazil.
  • Quaio CRDC; Fleury Medicina e Saúde, São Paulo 04344-070, Brazil.
  • Baratela WAR; Fleury Medicina e Saúde, São Paulo 04344-070, Brazil.
  • Acosta Guio JC; Especialista en Genética Médica, Instituto de Ortopedia Infantil Roosevelt, 17-50 Bogotá, Cundinamarca, Colombia.
  • Armstrong R; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Mehta SG; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 AB Groningen, the Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Lewandowski R; Virginia Commonwealth University, Richmond, VA 23298, USA.
  • Fernandes EM; Virginia Commonwealth University, Richmond, VA 23298, USA.
  • Shinde DN; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Tang S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
  • Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
  • Breman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
  • Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: yapingy@bcm.edu.
Am J Hum Genet ; 101(4): 503-515, 2017 Oct 05.
Article in En | MEDLINE | ID: mdl-28942966
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Gene Expression Regulation, Developmental / Craniofacial Abnormalities / Antigens, Nuclear / Haploinsufficiency / Language Development Disorders / Microcephaly / Nerve Tissue Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Language: En Year: 2017 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Gene Expression Regulation, Developmental / Craniofacial Abnormalities / Antigens, Nuclear / Haploinsufficiency / Language Development Disorders / Microcephaly / Nerve Tissue Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Language: En Year: 2017 Type: Article