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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo, Long; Bertola, Débora Romeo; Takanohashi, Asako; Saito, Asuka; Segawa, Yuko; Yokota, Takanori; Ishibashi, Satoru; Nishida, Yoichiro; Yamamoto, Guilherme Lopes; Franco, José Francisco da Silva; Honjo, Rachel Sayuri; Kim, Chong Ae; Musso, Camila Manso; Timmons, Margaret; Pizzino, Amy; Taft, Ryan J; Lajoie, Bryan; Knight, Melanie A; Fischbeck, Kenneth H; Singleton, Andrew B; Ferreira, Carlos R; Wang, Zheng; Yan, Li; Garbern, James Y; Simsek-Kiper, Pelin O; Ohashi, Hirofumi; Robey, Pamela G; Boyde, Alan; Matsumoto, Naomichi; Miyake, Noriko; Spranger, Jürgen; Schiffmann, Raphael; Vanderver, Adeline; Nishimura, Gen; Passos-Bueno, Maria Rita Dos Santos; Simons, Cas; Ishikawa, Kinya; Ikegawa, Shiro.
Affiliation
  • Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
  • Bertola DR; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil. Electronic address: debora.bertola@usp.br.
  • Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Saito A; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  • Segawa Y; Department of Orthopedic Surgery, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  • Yokota T; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  • Ishibashi S; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  • Nishida Y; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  • Yamamoto GL; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
  • Franco JFDS; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
  • Honjo RS; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
  • Kim CA; Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil.
  • Musso CM; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
  • Timmons M; Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Taft RJ; Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
  • Lajoie B; Illumina, Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
  • Knight MA; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Fischbeck KH; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Singleton AB; Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD 20892, USA.
  • Ferreira CR; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA, and Division of Genetics and Metabolism, Children's National Health System, Washington, DC 20010, USA.
  • Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, People's Republic of China.
  • Yan L; Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, People's Republic of China.
  • Garbern JY; Center of Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA.
  • Simsek-Kiper PO; Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey.
  • Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama 330-8777, Japan.
  • Robey PG; Skeletal Biology Section, National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD 20892, USA.
  • Boyde A; Biophysics, Oral Growth and Development, Dental Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Spranger J; Central German Competence Center for Rare Diseases (MKSE), Magdeburg 39120, Germany; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Schiffmann R; Baylor Scott & White Research Institute, Dallas, TX 75204, USA.
  • Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Nishimura G; Intractable Disease Center, Saitama University Hospital, Moro 350-0495, Japan.
  • Passos-Bueno MRDS; Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.
  • Simons C; Translational Bioinformatics Group, Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC 3052, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
  • Ishikawa K; Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan.
  • Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan. Electronic address: sikegawa@ims.u-tokyo.ac.jp.
Am J Hum Genet ; 104(5): 925-935, 2019 05 02.
Article in En | MEDLINE | ID: mdl-30982609
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Osteosclerosis / Brain / Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / Leukoencephalopathies / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Osteosclerosis / Brain / Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / Leukoencephalopathies / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: Japan