Your browser doesn't support javascript.
loading
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö, Anna; Pettersson, Maria; Chitayat, David; Handa, Atsuhiko; Anderlid, Britt-Marie; Bartocci, Marco; Basel, Donald; Batkovskyte, Dominyka; Beleza-Meireles, Ana; Conner, Peter; Eisfeldt, Jesper; Girisha, Katta M; Chung, Brian Hon-Yin; Horemuzova, Eva; Hyodo, Hironobu; Kornejeva, Liene; Lagerstedt-Robinson, Kristina; Lin, Angela E; Magnusson, Måns; Moosa, Shahida; Nayak, Shalini S; Nilsson, Daniel; Ohashi, Hirofumi; Ohashi-Fukuda, Naoko; Stranneheim, Henrik; Taylan, Fulya; Traberg, Rasa; Voss, Ulrika; Wirta, Valtteri; Nordgren, Ann; Nishimura, Gen; Lindstrand, Anna; Grigelioniene, Giedre.
Afiliação
  • Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden. anna.hammarsjo@ki.se.
  • Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Mt. Sinai Hospital, Toronto, ON, Canada.
  • Handa A; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
  • Anderlid BM; Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Bartocci M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Basel D; Department of Women's and Children's Health, Neonatology, Karolinska Institutet, Stockholm, Sweden.
  • Batkovskyte D; Division of Medical Genetics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Beleza-Meireles A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Conner P; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Eisfeldt J; Department of Women's and Children's Health, Karolinska Institutet and Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden.
  • Girisha KM; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Chung BH; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Horemuzova E; Department of Pediatrics and Adolescent Medicine, The University of Hong Kong and Shenzhen Hospital, Futian District, Shenzhen, China.
  • Hyodo H; Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
  • Kornejeva L; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Lagerstedt-Robinson K; Department of Women's and Children's Health, Karolinska Institutet and Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden.
  • Lin AE; Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Kotobashi, Sumida-ku, Tokyo, Japan.
  • Magnusson M; Department of Prenatal Diagnostics, Riga Maternity Hospital, Riga, Latvia.
  • Moosa S; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Nayak SS; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
  • Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Centre for Inherited Metabolic Diseases, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Ohashi H; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institute of Technology, Stockholm, Sweden.
  • Ohashi-Fukuda N; Medical Genetics, Tygerberg Hospital and Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa.
  • Stranneheim H; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Taylan F; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Traberg R; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Voss U; Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Kotobashi, Sumida-ku, Tokyo, Japan.
  • Wirta V; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Centre for Inherited Metabolic Diseases, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Nordgren A; Department of Microbiology, Tumor and Cell biology, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.
  • Nishimura G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Lindstrand A; Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, Kaunas, Lithuania.
  • Grigelioniene G; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.
J Hum Genet ; 66(10): 995-1008, 2021 Oct.
Article em En | MEDLINE | ID: mdl-33875766
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Desenvolvimento Ósseo / Predisposição Genética para Doença / Isoformas de Proteínas / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suécia País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Desenvolvimento Ósseo / Predisposição Genética para Doença / Isoformas de Proteínas / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suécia País de publicação: Reino Unido