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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Meester, Josephina A N; Southgate, Laura; Stittrich, Anna-Barbara; Venselaar, Hanka; Beekmans, Sander J A; den Hollander, Nicolette; Bijlsma, Emilia K; Helderman-van den Enden, Appolonia; Verheij, Joke B G M; Glusman, Gustavo; Roach, Jared C; Lehman, Anna; Patel, Millan S; de Vries, Bert B A; Ruivenkamp, Claudia; Itin, Peter; Prescott, Katrina; Clarke, Sheila; Trembath, Richard; Zenker, Martin; Sukalo, Maja; Van Laer, Lut; Loeys, Bart; Wuyts, Wim.
Afiliação
  • Meester JA; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, 2650, Belgium.
  • Southgate L; Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
  • Stittrich AB; Institute for Systems Biology, Seattle, Washington, SA 98109, USA.
  • Venselaar H; Centre of Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, 6525 GA, the Netherlands.
  • Beekmans SJ; Department of Plastic and Reconstructive Surgery, VU Medical Center Amsterdam, Amsterdam, 1081 HZ, the Netherlands.
  • den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, the Netherlands.
  • Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, the Netherlands.
  • Helderman-van den Enden A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, the Netherlands.
  • Verheij JB; Department of Medical Genetics, University Medical Centre Groningen and University of Groningen, Groningen, 9700 RB, the Netherlands.
  • Glusman G; Institute for Systems Biology, Seattle, Washington, SA 98109, USA.
  • Roach JC; Institute for Systems Biology, Seattle, Washington, SA 98109, USA.
  • Lehman A; Department of Medical Genetics, Child and Family Research Institute and University of British Columbia, Vancouver, BC, V6H 3N1, Canada.
  • Patel MS; Department of Medical Genetics, Child and Family Research Institute and University of British Columbia, Vancouver, BC, V6H 3N1, Canada.
  • de Vries BB; Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, 6500 HB, the Netherlands.
  • Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, the Netherlands.
  • Itin P; Department of Dermatology, University Hospital of Basel, Basel, 4031, Switzerland.
  • Prescott K; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, LS7 4SA, UK.
  • Clarke S; Department of Dermatology, Chapel Allerton Hospital, Leeds, LS7 4SA, UK.
  • Trembath R; Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
  • Zenker M; Institute of Human Genetics, Otto-von-Guericke-Universität Magdeburg and University Hospital Magdeburg, Magdeburg, 39120, Germany.
  • Sukalo M; Institute of Human Genetics, Otto-von-Guericke-Universität Magdeburg and University Hospital Magdeburg, Magdeburg, 39120, Germany.
  • Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, 2650, Belgium.
  • Loeys B; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, 2650, Belgium; Department of Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. Electronic address: bart.loeys@uantwerpen.be.
  • Wuyts W; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, 2650, Belgium. Electronic address: wim.wuyts@uantwerpen.be.
Am J Hum Genet ; 97(3): 475-82, 2015 Sep 03.
Article em En | MEDLINE | ID: mdl-26299364
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatoses do Couro Cabeludo / Displasia Ectodérmica / Transdução de Sinais / Deformidades Congênitas dos Membros / Peptídeos e Proteínas de Sinalização Intercelular / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatoses do Couro Cabeludo / Displasia Ectodérmica / Transdução de Sinais / Deformidades Congênitas dos Membros / Peptídeos e Proteínas de Sinalização Intercelular / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Bélgica