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Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Kline, Antonie D; Calof, Anne L; Lander, Arthur D; Gerton, Jennifer L; Krantz, Ian D; Dorsett, Dale; Deardorff, Matthew A; Blagowidow, Natalie; Yokomori, Kyoko; Shirahige, Katsuhiko; Santos, Rosaysela; Woodman, Julie; Megee, Paul C; O'Connor, Julia T; Egense, Alena; Noon, Sarah; Belote, Maurice; Goodban, Marjorie T; Hansen, Blake D; Timmons, Jenni Glad; Musio, Antonio; Ishman, Stacey L; Bryan, Yvon; Wu, Yaning; Bettini, Laura R; Mehta, Devanshi; Zakari, Musinu; Mills, Jason A; Srivastava, Siddharth; Haaland, Richard E.
Afiliação
  • Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
  • Calof AL; Department of Anatomy & Neurobiology, and the Center for Complex Biological Systems, University of California, Irvine, California.
  • Lander AD; Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.
  • Gerton JL; Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.
  • Krantz ID; Stowers Institute for Medical Research, University of Kansas School of Medicine, Kansas City, Missouri.
  • Dorsett D; Department of Biochemistry and Molecular Biology, University of Kansas School of Medicine, Kansas City, Missouri.
  • Deardorff MA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Blagowidow N; Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Yokomori K; Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, Saint Louis, Missouri.
  • Shirahige K; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Santos R; Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Woodman J; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
  • Megee PC; Department of Biologic Chemistry, University of California, Irvine, California.
  • O'Connor JT; Institute of Molecular and Cellular Biosciences, The University of Tokyo, and CREST, Japanese Science and Technology Agency, Tokyo, Japan.
  • Egense A; Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.
  • Noon S; Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Denver, Colorado.
  • Belote M; Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Denver, Colorado.
  • Goodban MT; Department of Psychiatry and Behavioral Sciences, Kennedy Krieger Institute, Baltimore, Maryland.
  • Hansen BD; Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Timmons JG; Division of Human Genetics, Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland.
  • Musio A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Ishman SL; California Deaf-Blind Services, San Francisco State University, San Francisco, California.
  • Bryan Y; Speech Language Pathology, Elmhurst College, Elmhurst, Illinois.
  • Wu Y; Department of Counseling Psychology and Special Education, Brigham Young University, Provo, Utah.
  • Bettini LR; University of Minnesota Doctor of Nursing Practice-Health Innovation and Leadership, Minneapolis, Minnesota.
  • Mehta D; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
  • Zakari M; Departments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio.
  • Mills JA; Department of Anesthesiology, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina.
  • Srivastava S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Haaland RE; Department of Pediatrics, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.
Am J Med Genet A ; 167(6): 1179-92, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25899772

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Regulação da Expressão Gênica no Desenvolvimento / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Mutação Limite: Adult / Animals / Child / Humans País/Região como assunto: America do norte Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Regulação da Expressão Gênica no Desenvolvimento / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Mutação Limite: Adult / Animals / Child / Humans País/Região como assunto: America do norte Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article