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The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T.
Afiliação
  • Pisan E; Laboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.
  • De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy.
  • Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy.
  • Sanchez Russo R; Human Functional Genomics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome 00163, Italy.
  • Li D; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.
  • Bhoj E; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
  • Wenger T; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.
  • Marwaha A; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.
  • Johnson N; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
  • Beneteau C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.
  • Brischoux-Boucher E; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.
  • Houge G; Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98105.
  • Paulsen J; Alberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Hammer TB; Alberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Ek J; Service de Génétique Médicale, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux F-33000, France.
  • Schweitzer D; Centre de Génétique Humaine, Centre Hospitalo-Universitaire de Besançon, Besançon 25000, France.
  • Russell BE; Department of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway.
  • Dutra-Clarke M; Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim 7006, Norway.
  • Nelson S; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.
  • Douine ED; Department of Genetics, Rigshospitalet, Copenhagen 2100, Denmark.
  • Corona RI; Department of Genetics, Rigshospitalet, Copenhagen 2100, Denmark.
  • Dudding T; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
  • Thomson H; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
  • Low K; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
  • Belnap N; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
  • Iascone M; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
  • Priolo M; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095.
  • Carli D; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Mussa A; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Bijlsma EK; Department of Clinical Genetics, St. Michaels Hospital, University Hospitals Bristol and Weston National Health Service Trust, Bristol BS2 8EJ, United Kingdom.
  • Kopp N; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012.
  • Jais JP; Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo 24127, Italy.
  • Amiel J; Unit of Medical Genetics, Azienda Ospedaliera di Rilievo Nazionale Cardarelli, Naples 80131, Italy.
  • Gordon CT; Department of Medical Sciences, University of Torino, Torino 10124, Italy.
Proc Natl Acad Sci U S A ; 121(12): e2317601121, 2024 Mar 19.
Article em En | MEDLINE | ID: mdl-38466850
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cardiopatias Congênitas / Deficiência Intelectual Limite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2024 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cardiopatias Congênitas / Deficiência Intelectual Limite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2024 Tipo de documento: Article País de afiliação: França