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  • Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

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Epigenetics
Original Article
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
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Authors

  • Solveig Heide Département de Génétique, APHP, Hôpital Armand-Trousseau, UF de Génétique Chromosomique, Paris, France PubMed articlesGoogle scholar articles
  • Sandra Chantot-Bastaraud Département de Génétique, APHP, Hôpital Armand-Trousseau, UF de Génétique Chromosomique, Paris, France PubMed articlesGoogle scholar articles
  • Boris Keren Département de Génétique, APHP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Madeleine D Harbison Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, USA PubMed articlesGoogle scholar articles
  • Salah Azzi Nuclear Dynamics ISPG, Babraham Institute, Cambridge, UK PubMed articlesGoogle scholar articles
  • Sylvie Rossignol Service de Pédiatrie 1, Hôpitaux Universitaires de Strasbourg, Strasbourg, France Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France PubMed articlesGoogle scholar articles
  • Caroline Michot Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France PubMed articlesGoogle scholar articles
  • Marilyn Lackmy-Port Lys Unité de Génétique Clinique, Centre de Compétences Maladies Rares Anomalies du développement, Centre Hospitalier Universitaire Pointe-a-Pitre Abymes, Pointe-a-Pitre, France PubMed articlesGoogle scholar articles
  • Bénédicte Demeer Service de Génétique Clinique et Oncogénétique, CLAD Nord de France, CHU Amiens-Picardie, Amiens, France PubMed articlesGoogle scholar articles
  • Claudine Heinrichs Service d’Endocrinologie Pédiatrique, Queen Fabiola Children’s University Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium PubMed articlesGoogle scholar articles
  • Ron S Newfield Department of Pediatrics, Division of Pediatric Endocrinology, University of California San Diego, San Diego, CA, USA Rady Children’s Hospital San Diego, San Diego, CA, USA PubMed articlesGoogle scholar articles
  • Pierre Sarda Service de Génétique Médicale, CHU de Montpellier, Montpellier, France PubMed articlesGoogle scholar articles
  • Lionel Van Maldergem CHU, Centre de Génétique Humaine Besançon, Université de Franche-Comté, Besançon, France PubMed articlesGoogle scholar articles
  • Véronique Trifard Service de Pédiatrie, CH de La Roche sur Yon, La Roche sur Yon, France PubMed articlesGoogle scholar articles
  • Eloise Giabicani AP-HP, Hôpitaux Universitaires Paris Est, Hôpital des Enfants Armand Trousseau, Service d’Explorations Fonctionnelles Endocriniennes, Paris, France INSERM UMR_S938, Centre de Recherche Saint Antoine, Paris, France Sorbonne Universites, UPMC Univ Paris 06, Paris, France PubMed articlesGoogle scholar articles
  • Jean-Pierre Siffroi Département de Génétique, APHP, Hôpital Armand-Trousseau, UF de Génétique Chromosomique, Paris, France PubMed articlesGoogle scholar articles
  • Yves Le Bouc AP-HP, Hôpitaux Universitaires Paris Est, Hôpital des Enfants Armand Trousseau, Service d’Explorations Fonctionnelles Endocriniennes, Paris, France INSERM UMR_S938, Centre de Recherche Saint Antoine, Paris, France Sorbonne Universites, UPMC Univ Paris 06, Paris, France PubMed articlesGoogle scholar articles
  • Irène Netchine AP-HP, Hôpitaux Universitaires Paris Est, Hôpital des Enfants Armand Trousseau, Service d’Explorations Fonctionnelles Endocriniennes, Paris, France INSERM UMR_S938, Centre de Recherche Saint Antoine, Paris, France Sorbonne Universites, UPMC Univ Paris 06, Paris, France PubMed articlesGoogle scholar articles
  • Frédéric Brioude AP-HP, Hôpitaux Universitaires Paris Est, Hôpital des Enfants Armand Trousseau, Service d’Explorations Fonctionnelles Endocriniennes, Paris, France INSERM UMR_S938, Centre de Recherche Saint Antoine, Paris, France Sorbonne Universites, UPMC Univ Paris 06, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Frédéric Brioude, Explorations Fonctionnelles Endocriniennes, Hôpital Trousseau, Paris 75012, France; frederic.brioude{at}aphp.fr
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Citation

Heide S, Chantot-Bastaraud S, Keren B, et al
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Journal of Medical Genetics 2018;55:205-213.

Publication history

  • Received July 17, 2017
  • Revised October 11, 2017
  • Accepted November 4, 2017
  • First published December 9, 2017.
Online issue publication 
February 22, 2018

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