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Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Schuurs-Hoeijmakers, Janneke H M; Landsverk, Megan L; Foulds, Nicola; Kukolich, Mary K; Gavrilova, Ralitza H; Greville-Heygate, Stephanie; Hanson-Kahn, Andrea; Bernstein, Jonathan A; Glass, Jennifer; Chitayat, David; Burrow, Thomas A; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der Aa, Nathalie; Kooy, Frank; Brown, Kate Tatton; Gadzicki, Dorothea; Kini, Usha; Alvarez, Sara; Fernández-Jaén, Alberto; McGehee, Frank; Selby, Katherine; Tarailo-Graovac, Maja; Van Allen, Margot; van Karnebeek, Clara D M; Stavropoulos, Dimitri J; Marshall, Christian R; Merico, Daniele; Gregor, Anne; Zweier, Christiane; Hopkin, Robert J; Chu, Yoyo Wing-Yiu; Chung, Brian Hon-Yin; de Vries, Bert B A; Devriendt, Koenraad; Hurles, Matthew E; Brunner, Han G.
Afiliação
  • Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Landsverk ML; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, and Sanford Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota.
  • Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
  • Kukolich MK; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Gavrilova RH; Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas.
  • Greville-Heygate S; Department of Neurology, Mayo Clinic, Rochester, Minnesota.
  • Hanson-Kahn A; Medical Genetics, Mayo Clinic, Rochester, Minnesota.
  • Bernstein JA; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
  • Glass J; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Chitayat D; Department of Genetics, Stanford University School of Medicine, Stanford, California.
  • Burrow TA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Husami A; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Collins K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Wusik K; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • van der Aa N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Kooy F; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Brown KT; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
  • Gadzicki D; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Kini U; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Alvarez S; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
  • Fernández-Jaén A; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
  • McGehee F; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
  • Selby K; Southwest Thames Regional Genetics Centre, St George's Healthcare NHS Trust, London, United Kingdom.
  • Tarailo-Graovac M; MVZ Endokrinologikum Hannover, Hannover, Germany.
  • Van Allen M; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • van Karnebeek CD; NIMgenetics, Madrid, Spain.
  • Stavropoulos DJ; School of Medicine, European University of Madrid, Spain.
  • Marshall CR; Neuropediatric Department, "Quiron" University Hospital, Spain.
  • Merico D; Consultant, Cook Children's Physician Network.
  • Gregor A; Child & family Research Institute, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Zweier C; Division of Pediatric Neurology, Department of Pediatrics, B.C. Children's & Women's Hospital, Vancouver, British Columbia, Canada.
  • Hopkin RJ; Centre for Molecular Medicine and Therapeutics (TIDE-BC), Department of Pediatrics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Chu YW; Child and family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Chung BH; Centre for Molecular Medicine and Therapeutics (TIDE-BC), Department of Pediatrics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • de Vries BB; Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada.
  • Devriendt K; Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hurles ME; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Brunner HG; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Am J Med Genet A ; 170(3): 670-5, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26842493
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Anormalidades Múltiplas / Mutação Puntual / Proteínas de Transporte Vesicular / Deficiência Intelectual Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Anormalidades Múltiplas / Mutação Puntual / Proteínas de Transporte Vesicular / Deficiência Intelectual Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article