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Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon, Tamsin; Perveen, Rahat; Schlecht, Hélene; Ramsden, Simon; Anderson, Beverley; Kerr, Bronwyn; Day, Ruth; Banka, Siddharth; Suri, Mohnish; Berland, Siren; Gabbett, Michael; Ma, Alan; Lyonnet, Stan; Cormier-Daire, Valerie; Yilmaz, Rüstem; Borck, Guntram; Wieczorek, Dagmar; Anderlid, Britt-Marie; Smithson, Sarah; Vogt, Julie; Moore-Barton, Heather; Simsek-Kiper, Pelin Ozlem; Maystadt, Isabelle; Destrée, Anne; Bucher, Jessica; Angle, Brad; Mohammed, Shehla; Wakeling, Emma; Price, Sue; Singer, Amihood; Sznajer, Yves; Toutain, Annick; Haye, Damien; Newbury-Ecob, Ruth; Fradin, Melanie; McGaughran, Julie; Tuysuz, Beyhan; Tein, Mark; Bouman, Katelijne; Dabir, Tabib; Van den Ende, Jenneke; Luk, Ho Ming; Pilz, Daniela T; Eason, Jacqueline; Davies, Sally; Reardon, Willie; Garavelli, Livia; Zuffardi, Orsetta; Devriendt, Koen; Armstrong, Ruth.
Afiliação
  • Gannon T; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Perveen R; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Schlecht H; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Ramsden S; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Anderson B; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Kerr B; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Day R; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Banka S; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Suri M; Department of Clinical Genetics, City Hospital, Nottingham, UK.
  • Berland S; Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
  • Gabbett M; Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD, Australia.
  • Ma A; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia.
  • Lyonnet S; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse, Paris.
  • Cormier-Daire V; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse, Paris.
  • Yilmaz R; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Wieczorek D; Institut fur Humangenetik, Universitätsklinikum Essen, Essen, Germany.
  • Anderlid BM; Institute of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institut and Clinical Genetic Department, Karolinska University Hospital, Stockholm, Sweden.
  • Smithson S; Clinical Genetics, University Hospitals, Bristol, UK.
  • Vogt J; Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Moore-Barton H; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia.
  • Simsek-Kiper PO; Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
  • Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Destrée A; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Bucher J; Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago, IL, USA.
  • Angle B; Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago, IL, USA.
  • Mohammed S; Clinical Genetics, Guys Hospital, Great Maze Pond, London.
  • Wakeling E; North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK.
  • Price S; Clinical Genetics, Northampton General Hospital, Cliftonville, Northampton, England.
  • Singer A; Paediatrics and Medical Genetics, Barzilai Medical Centre, Ashkelon, Israel.
  • Sznajer Y; Center for Human Genetics, Clinique Universitaire St-Luc, Université Catholique de Louvain, Brussels, Belgium.
  • Toutain A; Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
  • Haye D; Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
  • Newbury-Ecob R; Clinical Genetics, University Hospitals, Bristol, UK.
  • Fradin M; Service de Génétique Medicale CHU Rennes, Université de Rennes, Rennes, France.
  • McGaughran J; Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD, Australia.
  • Tuysuz B; Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
  • Tein M; Clinical Genetics, Birmingham Women's Hospital, Birmingha, UK.
  • Bouman K; Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands.
  • Dabir T; Medical Genetics, Belfast City Hospital, Belfast, Northern Ireland.
  • Van den Ende J; Centre For Medical Genetics, Prins Boudewijnlaan 43, Edegem, Belgium.
  • Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China.
  • Pilz DT; Institute of Medical Genetics, University Hospital of Wales, Cardif, Wales.
  • Eason J; Department of Clinical Genetics, City Hospital, Nottingham, UK.
  • Davies S; Institute of Medical Genetics, University Hospital of Wales, Cardif, Wales.
  • Reardon W; National Centre For Medical Genetics, Our Lady's Hospital For Sick Children, Dublin, Ireland.
  • Garavelli L; Clinical Genetics Unit, Obstetric and Pediatric Department, Arcispedale S. Maria Nuova, Istitu di Ricovero e Cura a Carattere Scientifico, Reggio, Emilia, Italy.
  • Zuffardi O; Institute of Human Genetics, University of Pavia, Pavia, Italy.
  • Devriendt K; UZ Leuven, Campus Gasthuisberg, Leuven, Belgium.
  • Armstrong R; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, MA, USA.
Eur J Hum Genet ; 23(9): 1165-70, 2015 Sep.
Article em En | MEDLINE | ID: mdl-25424711
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Patela / Transtornos Psicomotores / Escroto / Anormalidades Urogenitais / Éxons / Blefarofimose / Anormalidades Craniofaciais / Hipotireoidismo Congênito / Histona Acetiltransferases / Cardiopatias Congênitas Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Patela / Transtornos Psicomotores / Escroto / Anormalidades Urogenitais / Éxons / Blefarofimose / Anormalidades Craniofaciais / Hipotireoidismo Congênito / Histona Acetiltransferases / Cardiopatias Congênitas Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido