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Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
Guo, Dong-Chuan; Duan, Xue-Yan; Regalado, Ellen S; Mellor-Crummey, Lauren; Kwartler, Callie S; Kim, Dong; Lieberman, Kenneth; de Vries, Bert B A; Pfundt, Rolph; Schinzel, Albert; Kotzot, Dieter; Shen, Xuetong; Yang, Min-Lee; Bamshad, Michael J; Nickerson, Deborah A; Gornik, Heather L; Ganesh, Santhi K; Braverman, Alan C; Grange, Dorothy K; Milewicz, Dianna M.
Affiliation
  • Guo DC; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
  • Duan XY; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
  • Regalado ES; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
  • Mellor-Crummey L; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
  • Kwartler CS; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
  • Kim D; Department of Neurosurgery, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA.
  • Lieberman K; Pediatric Nephrology, Joseph M. Sanzari Children's Hospital, Hackensack, NJ 07601, USA.
  • de Vries BBA; Department of Human Genetics, Radboud University Nijmegen Medical Center, 6525 Nijmegen, the Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Nijmegen Medical Center, 6525 Nijmegen, the Netherlands.
  • Schinzel A; Institute of Medical Genetics, University of Zurich, 8006 Zurick, Switzerland.
  • Kotzot D; Department of Medical Genetics, Molecular and Clinical Pharmacology of the Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Shen X; Department of Epigenetics &Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
  • Yang ML; Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
  • Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Gornik HL; Department of Cardiovascular Medicine, Cleveland Clinic Heart and Vascular Institute, Cleveland, OH 44195, USA.
  • Ganesh SK; Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
  • Braverman AC; Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Grange DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Milewicz DM; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA. Electronic address: dianna.m.milewicz@uth.tmc.edu.
Am J Hum Genet ; 100(1): 21-30, 2017 Jan 05.
Article in En | MEDLINE | ID: mdl-27939641
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Nuclear Proteins / Fibromuscular Dysplasia / Muscle, Smooth, Vascular / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2017 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Nuclear Proteins / Fibromuscular Dysplasia / Muscle, Smooth, Vascular / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2017 Document type: Article Affiliation country: United States Country of publication: United States