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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin, Ella M M A; Enriquez, Annabelle; Sparrow, Duncan B; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Duncan, Emma L; Iyer, Kavitha R; Greasby, Joelene A; Ip, Eddie; Giannoulatou, Eleni; Sheng, Delicia; Wohler, Elizabeth; Dimartino, Clémantine; Amiel, Jeanne; Capri, Yline; Lehalle, Daphné; Mory, Adi; Wilnai, Yael; Lebenthal, Yael; Gharavi, Ali G; Krzemien, Grazyna G; Miklaszewska, Monika; Steiner, Robert D; Raggio, Cathy; Blank, Robert; Baris Feldman, Hagit; Milo Rasouly, Hila; Sobreira, Nara L M; Jobling, Rebekah; Gordon, Christopher T; Giampietro, Philip F; Dunwoodie, Sally L; Chapman, Gavin.
Afiliação
  • Martin EMMA; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Enriquez A; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Sparrow DB; Faculty of Medicine, UNSW, Sydney 2052, Australia.
  • Humphreys DT; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • McInerney-Leo AM; Faculty of Science, UNSW, Sydney 2052, Australia.
  • Leo PJ; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK.
  • Duncan EL; Faculty of Medicine, UNSW, Sydney 2052, Australia.
  • Iyer KR; Molecular, Structural and Computational Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Greasby JA; Dermatology Research Centre, The University of Queensland Diamantina Institute, Translational Research Institute, Brisbane 4072, Australia.
  • Ip E; Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba 4102, Australia.
  • Giannoulatou E; Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba 4102, Australia.
  • Sheng D; Department of Twin Research & Genetic Epidemiology, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London SE1 7EH, UK.
  • Wohler E; Faculty of Medicine, University of Queensland, Herston 4006, Australia.
  • Dimartino C; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Amiel J; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Capri Y; Faculty of Medicine, UNSW, Sydney 2052, Australia.
  • Lehalle D; Computational Genomics Laboratory, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Mory A; Faculty of Medicine, UNSW, Sydney 2052, Australia.
  • Wilnai Y; Computational Genomics Laboratory, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Lebenthal Y; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.
  • Gharavi AG; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore 21287, USA.
  • Krzemien GG; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.
  • Miklaszewska M; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.
  • Steiner RD; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.
  • Raggio C; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.
  • Blank R; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris 75015, France.
  • Baris Feldman H; Département de Génétique, Hôpital Robert Debré, Assistance Publique Hôpitaux de Paris, Paris 75019, France.
  • Milo Rasouly H; Centre Hospitalier Intercommunal Créteil, Créteil 94000, France.
  • Sobreira NLM; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.
  • Jobling R; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.
  • Gordon CT; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Giampietro PF; Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Pediatric Endocrinology and Diabetes Unit, Tel Aviv 6423906, Israel.
  • Dunwoodie SL; Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA.
  • Chapman G; Department of Pediatrics and Nephrology, Warsaw Medical University, Warsaw 02-091, Poland.
Hum Mol Genet ; 29(22): 3662-3678, 2020 12 04.
Article em En | MEDLINE | ID: mdl-33276377
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Proteínas de Ligação a DNA / Haploinsuficiência / Fatores de Processamento de RNA / Rim Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Proteínas de Ligação a DNA / Haploinsuficiência / Fatores de Processamento de RNA / Rim Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article