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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi, Futoshi; Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Teik, Keng Wee; Mizuno, Seiji; Suzumura, Hiroshi; Isidor, Bertrand; Ong, Winnie Peitee; Haniffa, Muzhirah; White, Susan M; Matsuo, Mari; Saito, Kayoko; Phadke, Shubha; Kosho, Tomoki; Yap, Patrick; Goyal, Manisha; Clarke, Lorne A; Sachdev, Rani; McGillivray, George; Leventer, Richard J; Patel, Chirag; Yamagata, Takanori; Osaka, Hitoshi; Hisaeda, Yoshiya; Ohashi, Hirofumi; Shimizu, Kenji; Nagasaki, Keisuke; Hamada, Junpei; Dateki, Sumito; Sato, Takashi; Chinen, Yasutsugu; Awaya, Tomonari; Kato, Takeo; Iwanaga, Kougoro; Kawai, Masahiko; Matsuoka, Takashi; Shimoji, Yoshikazu; Tan, Tiong Yang; Kapoor, Seema; Gregersen, Nerine; Rossi, Massimiliano; Marie-Laure, Mathieu; McGregor, Lesley; Oishi, Kimihiko; Mehta, Lakshmi; Gillies, Greta; Lockhart, Paul J; Pope, Kate; Shukla, Anju; Girisha, Katta Mohan.
Afiliação
  • Sekiguchi F; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
  • Tsurusaki Y; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
  • Okamoto N; Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Kanagawa, Japan.
  • Teik KW; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Mizuno S; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Suzumura H; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
  • Isidor B; Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
  • Ong WP; CHU Nantes, Service de Genetique Medicale, Nantes, France.
  • Haniffa M; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • White SM; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Matsuo M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Saito K; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Phadke S; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
  • Kosho T; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
  • Yap P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Goyal M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Clarke LA; Genetic Health Service New Zealand, Auckland, New Zealand.
  • Sachdev R; Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
  • McGillivray G; Rare Disease Clinic, J K Lone Hospital, SMS Medical College, Jaipur, Rajasthan, India.
  • Leventer RJ; British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Patel C; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Yamagata T; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Osaka H; Royal Children's Hospital Department of Neurology, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Parkville, 3052, Australia.
  • Hisaeda Y; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
  • Ohashi H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Shimizu K; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Nagasaki K; Department of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan.
  • Hamada J; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Dateki S; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Sato T; Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Chinen Y; Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
  • Awaya T; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Kato T; Asahikawa-Kosei General Hospital, Hokkaido, Japan.
  • Iwanaga K; Department of Child Health and Welfare, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
  • Kawai M; Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Matsuoka T; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Shimoji Y; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Tan TY; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Kapoor S; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Gregersen N; Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan.
  • Rossi M; Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan.
  • Marie-Laure M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • McGregor L; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Oishi K; Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
  • Mehta L; Genetic Health Service New Zealand, Auckland, New Zealand.
  • Gillies G; Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France.
  • Lockhart PJ; Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France.
  • Pope K; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.
  • Shukla A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Girisha KM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
J Hum Genet ; 64(12): 1173-1186, 2019 Dec.
Article em En | MEDLINE | ID: mdl-31530938
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Predisposição Genética para Doença / Face / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Anormalidades Múltiplas / Deformidades Congênitas da Mão / Predisposição Genética para Doença / Face / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão