Your browser doesn't support javascript.
loading
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Ritter, Alyssa L; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amélie; Ohl, Jeanine; Kukolich, Mary K; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R; Sullivan, Jennifer A; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C; Izumi, Kosuke.
  • Ritter AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Gold J; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Hayashi H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Ackermann AM; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Hanke S; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Skraban C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Cuddapah S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Kuroda Y; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Wen J; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Takeda R; Division of Genetics, Nagano Children's Hospital, Nagano, Japan.
  • Bibb A; Department of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, GA.
  • El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique Médicale, UMR_S1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France.
  • Piton A; Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, IGBMC - CNRS UMR 7104 - Inserm U 1258, Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Ohl J; Service d'assistance Médicale à la Procréation, Centre médico-chirurgical et obstétrical (CMCO), Schiltigheim, France.
  • Kukolich MK; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX.
  • Nagasaki K; Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan.
  • Kato K; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
  • Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
  • Bhatti T; Division of Anatomic Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Russo P; Division of Anatomic Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Krock B; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Murrell JR; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC.
  • Stong N; Institute for Genomic Medicine, Columbia University, New York, NY.
  • Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Sawano K; Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan.
  • Torti E; GeneDx, Gaithersburg, MD.
  • Willaert R; GeneDx, Gaithersburg, MD.
  • Si Y; GeneDx, Gaithersburg, MD.
  • Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, GA.
  • Wirgenes KV; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Thomassen K; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Oslo, Norway.
  • Carlotti K; Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH.
  • Erwin A; Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH.
  • Lazier J; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Marquardt T; Department of Pediatrics, University Hospital of Muenster, Muenster, Germany.
  • He M; Metabolic and Advanced Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: izumik1@chop.edu.
Genet Med ; 24(6): 1227-1237, 2022 06.
Article en En | MEDLINE | ID: mdl-35300924
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Hepatoblastoma / Enanismo / Neoplasias Hepáticas / Discapacidad Intelectual / Micrognatismo Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Hepatoblastoma / Enanismo / Neoplasias Hepáticas / Discapacidad Intelectual / Micrognatismo Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article