Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Marques Lourenço, Charles; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A; De Vries, Bert B A; Schinzel, Albert; Fisher, Simon E; Hoischen, Alexander; van Bon, Bregje W

Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Marques Lourenço, Charles; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A; De Vries, Bert B A; Schinzel, Albert; Fisher, Simon E; Hoischen, Alexander; van Bon, Bregje W.

Afiliação

Acuna-Hidalgo R; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Steehouwer M; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Gilissen C; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Graham SA; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
van Dam S; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Hoover-Fong J; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Telegrafi AB; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America.
Destree A; GeneDx, Gaithersburg, Maryland, United States of America.
Smigiel R; Institute of Pathology and Genetics (IPG), Gosselies, Belgium.
Lambie LA; Department of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland.
Kayserili H; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Altunoglu U; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.
Lapi E; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Uzielli ML; Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy.
Aracena M; University of Florence, Genetic Science, Firenze, Italy.
Nur BG; División de Pediatría, Pontificia Universidad Católica de Chile and Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago Chile.
Mihci E; Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey.
Moreira LM; Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey.
Borges Ferreira V; Laboratory of Human Genetics, Biology Institute, Federal University of Bahia (UFBA), Bahia, Brazil.
Horovitz DD; Hospital Santa Izabel, Salvador-Bahia, Brazil.
da Rocha KM; CERES-Genetica Reference Center and Studies in Medical Genetics and Instituto Fernandes Figueira / Fiocruz, Rio de Janeiro, Brazil.
Jezela-Stanek A; Center for Human Genome Studies, Institute of Biosciences, USP, Sao Paulo, Brazil.
Brooks AS; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Reutter H; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Cohen JS; Institute of Human Genetics, University of Bonn, Bonn, Germany and Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.
Fatemi A; Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
Smitka M; Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America.
Grebe TA; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.
Di Donato N; Division of Genetics & Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, United States of America.
Deshpande C; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
Vandersteen A; Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
Marques Lourenço C; North West Thames Regional Genetics Unit, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow, Middlesex, United Kingdom.
Dufke A; Neurogenetics Unit, Department of Medical Genetics School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil.
Rossier E; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Andre G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Baumer A; Unité de foetopathologie, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France.
Spencer C; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
McGaughran J; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Franke L; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland and School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Veltman JA; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
De Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
Schinzel A; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.
Fisher SE; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Hoischen A; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
van Bon BW; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.

PLoS Genet ; 13(3): e1006683, 2017 03.

Article em En | MEDLINE | ID: mdl-28346496

Assuntos

Anormalidades Múltiplas/genética; Proteínas de Transporte/genética; Anormalidades Craniofaciais/genética; Predisposição Genética para Doença/genética; Deformidades Congênitas da Mão/genética; Neoplasias Hematológicas/genética; Deficiência Intelectual/genética; Mutação; Unhas Malformadas/genética; Proteínas Nucleares/genética; Anormalidades Múltiplas/metabolismo; Anormalidades Múltiplas/patologia; Western Blotting; Proteínas de Transporte/metabolismo; Linhagem Celular; Proliferação de Células/genética; Transformação Celular Neoplásica/genética; Criança; Pré-Escolar; Anormalidades Craniofaciais/metabolismo; Anormalidades Craniofaciais/patologia; Feminino; Perfilação da Expressão Gênica; Estudos de Associação Genética; Mutação em Linhagem Germinativa; Células HEK293; Deformidades Congênitas da Mão/metabolismo; Deformidades Congênitas da Mão/patologia; Neoplasias Hematológicas/metabolismo; Neoplasias Hematológicas/patologia; Humanos; Lactente; Recém-Nascido; Deficiência Intelectual/metabolismo; Deficiência Intelectual/patologia; Masculino; Unhas Malformadas/metabolismo; Unhas Malformadas/patologia; Proteínas Nucleares/metabolismo; Fenótipo

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Texto completo: 1 Coleções: 01-internacional Temas: Geral / Tipos_de_cancer / Outros_tipos Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Proteínas Nucleares / Proteínas de Transporte / Neoplasias Hematológicas / Anormalidades Craniofaciais / Predisposição Genética para Doença / Deficiência Intelectual / Mutação / Unhas Malformadas Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda

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