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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas, Saskia M; Shaw, Adam C; Bikker, Hennie; Lüdecke, Hermann-Josef; van der Tuin, Karin; Badura-Stronka, Magdalena; Belligni, Elga; Biamino, Elisa; Bonati, Maria Teresa; Carvalho, Daniel R; Cobben, JanMaarten; de Man, Stella A; Den Hollander, Nicolette S; Di Donato, Nataliya; Garavelli, Livia; Grønborg, Sabine; Herkert, Johanna C; Hoogeboom, A Jeannette M; Jamsheer, Aleksander; Latos-Bielenska, Anna; Maat-Kievit, Anneke; Magnani, Cinzia; Marcelis, Carlo; Mathijssen, Inge B; Nielsen, Maartje; Otten, Ellen; Ousager, Lilian B; Pilch, Jacek; Plomp, Astrid; Poke, Gemma; Poluha, Anna; Posmyk, Renata; Rieubland, Claudine; Silengo, Margharita; Simon, Marleen; Steichen, Elisabeth; Stumpel, Connie; Szakszon, Katalin; Polonkai, Edit; van den Ende, Jenneke; van der Steen, Antony; van Essen, Ton; van Haeringen, Arie; van Hagen, Johanna M; Verheij, Joke B G M; Mannens, Marcel M; Hennekam, Raoul C.
Affiliation
  • Maas SM; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Shaw AC; Department of Clinical Genetics, Guy's & St Thomas' Hospitals, London, United Kingdom.
  • Bikker H; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Lüdecke HJ; Institut fur Humangenetik, Universitätsklinikum, Essen, Germany.
  • van der Tuin K; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Genetics, and NZOZ Centre for Medical Genetics GENESIS, Poznan, Poland.
  • Belligni E; Università di Torino, Dipartimento di Scienze della Sanità Publica e Pediatriche, Torino, Italy.
  • Biamino E; Università di Torino, Dipartimento di Scienze della Sanità Publica e Pediatriche, Torino, Italy.
  • Bonati MT; Istituto Auxologico Italiano, IRCCS, Milano, Italy.
  • Carvalho DR; Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
  • Cobben J; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
  • de Man SA; Department of Paediatrics, Amphia Hospital, Breda, The Netherlands.
  • Den Hollander NS; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Di Donato N; Institut für Klinische Genetik, TU Dresden, Dresden, Germany.
  • Garavelli L; Clinical Genetics Unit, Obstetric and Paediatric Department, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
  • Grønborg S; Department of Clinical Genetics, Centre for Rare Diseases, Juliane Marie Centre, Copenhagen University Hospital Rigshospitalet, Denmark.
  • Herkert JC; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
  • Hoogeboom AJ; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.
  • Jamsheer A; Department of Medical Genetics, Poznan University of Medical Genetics, and NZOZ Centre for Medical Genetics GENESIS, Poznan, Poland.
  • Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Genetics, and NZOZ Centre for Medical Genetics GENESIS, Poznan, Poland.
  • Maat-Kievit A; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.
  • Magnani C; Neonatal Intensive Care Unit, Obstetric and Paediatric Department, University Hospital, Parma, Italy.
  • Marcelis C; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Mathijssen IB; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Otten E; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
  • Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Pilch J; Department of Paediatrics and Developmental Age Neurology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
  • Plomp A; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Poke G; Genetic Health Service NZ, Wellington, New Zealand.
  • Poluha A; Department of Medical Genetics, Lublin, Poland.
  • Posmyk R; Podlaskie Centre of Clinical Genetics, Bialystok and Department of Perinatology, Medical University in Bialystok, Bialystok, Poland.
  • Rieubland C; Division of Human Genetics, Department of Paediatrics, Inselspital, University of Bern, Bern, Switzerland.
  • Silengo M; Università di Torino, Dipartimento di Scienze della Sanità Publica e Pediatriche, Torino, Italy.
  • Simon M; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.
  • Steichen E; Department of Paediatrics, Medical University of Innsbruck, Innsbruck, Austria.
  • Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.
  • Szakszon K; Department of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Polonkai E; Department of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • van den Ende J; Centre of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
  • van der Steen A; Maritime Medical Genetics Service, Halifax, Nova Scotia, Canada.
  • van Essen T; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • van Hagen JM; Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
  • Verheij JB; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
  • Mannens MM; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Hennekam RC; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address: r.c.hennekam@amc.uva.nl.
Eur J Med Genet ; 58(5): 279-92, 2015 May.
Article in En | MEDLINE | ID: mdl-25792522
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Langer-Giedion Syndrome / DNA-Binding Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Langer-Giedion Syndrome / DNA-Binding Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Affiliation country: Country of publication: