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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Reijnders, Margot R F; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny M A; Veenstra-Knol, Hermine E; Anderlid, Britt-Marie M; Wood, Stephen A; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M; Vreeburg, Maaike; Hobson, Emma; Sutton, V Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske.
Afiliação
  • Reijnders MR; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Zachariadis V; Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, 171 76 Stockholm, Sweden.
  • Latour B; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Jolly L; Neurogenetics, School of Medicine and the Robinson Research Institute, the University of Adelaide, Adelaide, SA 5005, Australia.
  • Mancini GM; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, 3000 CA Rotterdam, the Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Wu KM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • van Ravenswaaij-Arts CM; Department of Genetics, University of Groningen, University Medical Center of Groningen, 9700 RB Groningen, the Netherlands.
  • Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center of Groningen, 9700 RB Groningen, the Netherlands.
  • Anderlid BM; Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, 171 76 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden.
  • Wood SA; The Eskitis Institute for Drug Discovery, Griffith University, Brisbane, QLD 4111, Australia.
  • Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Barnicoat A; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Probst F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Brooks AS; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, 3000 CA Rotterdam, the Netherlands.
  • Malmgren H; Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, 171 76 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden.
  • Harila-Saari A; Department of Women's and Children's Health, Karolinska University Hospital, 171 76 Stockholm, Sweden.
  • Marcelis CM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Hobson E; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Vogt J; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Cooper N; Clinical Genetics Unit, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2G, UK.
  • Lim JY; KK Women's and Children's Hospital, 229899 Singapore, Singapore.
  • Price S; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
  • Lai AH; KK Women's and Children's Hospital, 229899 Singapore, Singapore.
  • Domingo D; School of Biological Sciences, The University of Adelaide, Adelaide 5000, Australia.
  • Reversade B; Institute of Medical Biology, A(∗)STAR, 138648 Singapore, Singapore; Amsterdam Reproduction & Development, Academic Medical Centre & VU University Medical Center, Reproductive Biology Laboratory (Q3-119), Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Gecz J; Neurogenetics, School of Medicine and the Robinson Research Institute, the University of Adelaide, Adelaide, SA 5005, Australia.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
  • Roepman R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: ronald.roepman@radboudumc.nl.
  • Nordgren A; Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, 171 76 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: tjitske.kleefstra@radboudumc.nl.
Am J Hum Genet ; 98(2): 373-81, 2016 Feb 04.
Article em En | MEDLINE | ID: mdl-26833328
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Ubiquitina Tiolesterase / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Ubiquitina Tiolesterase / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda