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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö, A; Wang, Z; Vaz, R; Taylan, F; Sedghi, M; Girisha, K M; Chitayat, D; Neethukrishna, K; Shannon, P; Godoy, R; Gowrishankar, K; Lindstrand, A; Nasiri, J; Baktashian, M; Newton, P T; Guo, L; Hofmeister, W; Pettersson, M; Chagin, A S; Nishimura, G; Yan, L; Matsumoto, N; Nordgren, A; Miyake, N; Grigelioniene, G; Ikegawa, S.
Afiliação
  • Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Wang Z; Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Vaz R; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Taylan F; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Sedghi M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Girisha KM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Chitayat D; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
  • Neethukrishna K; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Shannon P; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Godoy R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Gowrishankar K; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
  • Lindstrand A; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Nasiri J; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Baktashian M; Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamilnadu, India.
  • Newton PT; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Guo L; Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Hofmeister W; Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical sciences, Isfahan, Iran.
  • Pettersson M; Student Research Committee, Department of Modern Sciences and Technologies, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Chagin AS; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
  • Nishimura G; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Yan L; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Matsumoto N; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Nordgren A; Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Miyake N; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
  • Grigelioniene G; Intractable Disease Center, Saitama University Hospital, Saitama, Japan.
  • Ikegawa S; Department of Neurology, China-Japan Friendship Hospital, Beijing, China.
Sci Rep ; 7(1): 15585, 2017 Nov 14.
Article em En | MEDLINE | ID: mdl-29138412
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Predisposição Genética para Doença / Ciliopatias / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Predisposição Genética para Doença / Ciliopatias / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article