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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita, Mari J; Chen, Chun-An; Chitayat, David; Macnamara, Ellen; Rosenfeld, Jill A; Hanchard, Neil; Lewis, Andrea M; Brown, Chester W; Marom, Ronit; Shao, Yunru; Novacic, Danica; Wolfe, Lynne; Wahl, Colleen; Tifft, Cynthia J; Toro, Camilo; Bernstein, Jonathan A; Hale, Caitlin L; Silver, Julia; Hudgins, Louanne; Ananth, Amitha; Hanson-Kahn, Andrea; Shuster, Shirley; Magoulas, Pilar L; Patel, Vipulkumar N; Zhu, Wenmiao; Chen, Stella M; Jiang, Yanjun; Liu, Pengfei; Eng, Christine M; Batkovskyte, Dominyka; di Ronza, Alberto; Sardiello, Marco; Lee, Brendan H; Schaaf, Christian P; Yang, Yaping; Wang, Xia.
Afiliación
  • Tokita MJ; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Chen CA; 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.
  • Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON M5G 1Z5, Canada.
  • Macnamara E; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA.
  • Rosenfeld JA; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hanchard N; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Lewis AM; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Brown CW; University of Tennessee Health Science Center, Memphis, TN 38163, USA; Le Bonheur Children's Hospital, Memphis, TN 38103, USA.
  • Marom R; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Shao Y; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Novacic D; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD 20892, USA.
  • Wolfe L; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD 20892, USA.
  • Wahl C; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA.
  • Tifft CJ; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA.
  • Toro C; NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA.
  • Bernstein JA; Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Hale CL; Lucile Packard Children's Hospital Stanford, Stanford, CA 94305, USA.
  • Silver J; Prenatal Diagnostic Center, University of California San Francisco, San Francisco, CA 94158, USA.
  • Hudgins L; Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Ananth A; University of Alabama, Birmingham, AL 35294, USA.
  • Hanson-Kahn A; Stanford University School of Medicine, Stanford, CA 94305, USA; Lucile Packard Children's Hospital Stanford, Stanford, CA 94305, USA.
  • Shuster S; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON M5G 1Z5, Canada.
  • Magoulas PL; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Patel VN; Baylor Genetics, Houston, TX 77021, USA.
  • Zhu W; Baylor Genetics, Houston, TX 77021, USA.
  • Chen SM; Baylor Genetics, Houston, TX 77021, USA.
  • Jiang Y; Baylor Genetics, Houston, TX 77021, USA.
  • Liu P; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
  • Eng CM; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
  • Batkovskyte D; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • di Ronza A; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sardiello M; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lee BH; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Schaaf CP; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Institute of Human Genetics, University Hospital Cologne, Cologne 50931, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne 50931, Germany; Center for Rare Diseases, University Hospital Colo
  • Yang Y; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: yapingy@bcm.edu.
  • Wang X; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: xiaw@bcm.edu.
Am J Hum Genet ; 103(1): 154-162, 2018 07 05.
Article en En | MEDLINE | ID: mdl-29961569
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense / Péptidos y Proteínas Asociados a Receptores de Factores de Necrosis Tumoral / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Mutación Missense / Péptidos y Proteínas Asociados a Receptores de Factores de Necrosis Tumoral / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos