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Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Lu, Shenzhao; Hernan, Rebecca; Marcogliese, Paul C; Huang, Yan; Gertler, Tracy S; Akcaboy, Meltem; Liu, Shiyong; Chung, Hyung-Lok; Pan, Xueyang; Sun, Xiaoqin; Oguz, Melahat Melek; Oztoprak, Ulkühan; de Baaij, Jeroen H F; Ivanisevic, Jelena; McGinnis, Erin; Guillen Sacoto, Maria J; Chung, Wendy K; Bellen, Hugo J.
Afiliação
  • Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hernan R; Department of Pediatrics, Columbia University, New York, NY 10032, USA.
  • Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Huang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Gertler TS; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Akcaboy M; Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
  • Liu S; Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, PR China.
  • Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Sun X; Department of Neurosurgery, Xinqiao Hospital, Army Medical University, Chongqing, 400037, PR China.
  • Oguz MM; Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
  • Oztoprak U; Department of Pediatric Neurology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
  • de Baaij JHF; Department of Physiology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, 6500HB, the Netherlands.
  • Ivanisevic J; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
  • Guillen Sacoto MJ; GeneDx, Inc., Gaithersburg, MD 20877, USA.
  • Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: wkc15@cumc.columbia.edu.
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.
Am J Hum Genet ; 109(4): 571-586, 2022 04 07.
Article em En | MEDLINE | ID: mdl-35240055
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Animals / Child / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Animals / Child / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos