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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David; Amaral, Michelle D; Worthey, Elizabeth A; Levy, Shawn; Wangler, Michael F; Bellen, Hugo J; Shashi, Vandana; Yamamoto, Shinya.
Afiliação
  • Liu N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Pena LDM; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Bhavana VH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Kukolich MK; Department of Genetics, Cook Children's Hospital, Fort Worth, TX, USA.
  • Stringer S; Department of Genetics, Cook Children's Hospital, Fort Worth, TX, USA.
  • Powis Z; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Radtke K; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Mroske C; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
  • Deak KL; Department of Pathology, Duke University, Durham, NC, USA.
  • McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Markert ML; Division of Allergy and Immunology, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Kranz PG; Division of Neuroradiology, Department of Radiology, Duke Health, Durham, NC, USA.
  • Stong N; Institute for Genomic Medicine, Columbia University, New York, NY, USA.
  • Need AC; Division of Brain Sciences, Department of Medicine, Imperial College London, London, UK.
  • Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Worthey EA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Levy S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bellen HJ; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.
  • Shashi V; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.
  • Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Hum Mol Genet ; 27(14): 2454-2465, 2018 07 15.
Article em En | MEDLINE | ID: mdl-29726930
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Predisposição Genética para Doença / Proteínas com Domínio T / Síndrome de DiGeorge Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Female / Humans / Pregnancy Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Predisposição Genética para Doença / Proteínas com Domínio T / Síndrome de DiGeorge Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Female / Humans / Pregnancy Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido