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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier, Agnès; Domingues, Christelle; De Cazanove, Clémence; Porquet-Bordes, Valérie; Monnot, Sophie; Kiffer-Moreira, Tina; Rothenbuhler, Agnès; Guggenbuhl, Pascal; Cormier, Catherine; Baujat, Geneviève; Debiais, Françoise; Capri, Yline; Cohen-Solal, Martine; Parent, Philippe; Chiesa, Jean; Dieux, Anne; Petit, Florence; Roume, Joelle; Isnard, Monica; Cormier-Daire, Valérie; Linglart, Agnès; Millán, José Luis; Salles, Jean-Pierre; Muti, Christine; Simon-Bouy, Brigitte; Mornet, Etienne.
Afiliação
  • Taillandier A; Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, 78150 Le Chesnay, France. Electronic address: ataillandier@ch-versailles.fr.
  • Domingues C; Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, 78150 Le Chesnay, France. Electronic address: christelle.adam1@voila.fr.
  • De Cazanove C; Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, 78150 Le Chesnay, France. Electronic address: c.de.casanove@outlook.fr.
  • Porquet-Bordes V; Endocrinologie, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, CHU de Toulouse, Toulouse Cedex 9, France. Electronic address: porquet-bordes.v@chu-toulouse.fr.
  • Monnot S; Université Paris-Descartes, Sorbonne Paris Cité, Institut Imagine and INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France. Electronic address: sophie.monnot@nck.aphp.fr.
  • Kiffer-Moreira T; Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA. Electronic address: kiffer-moreira@sanfordburnham.org.
  • Rothenbuhler A; APHP, Bicêtre Paris Sud, Department of Pediatric Endocrinology and Diabetology for Children, Le Kremlin Bicêtre 94270, France; APHP, Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme D'expertise Paris Sud, Le Kremlin Bicêtre 94270, France. Electronic address: anya.rothenbu
  • Guggenbuhl P; Service de Rhumatologie, Hôpital Sud, CHU de Rennes, 16, Boulevard de Bulgarie, BP90347, 35203 Rennes Cedex 2, France. Electronic address: pascal.guggenbuhl@chu-rennes.fr.
  • Cormier C; Rheumatology Department, Cochin University Hospital, 75015 Paris, France. Electronic address: Catherine.Cormier@cch.ap-hop-paris.fr.
  • Baujat G; Centres de Référence Maladies Osseuses Constitutionnelles (MOC), Hôpital Universitaire Necker-Enfants Malades et Institut Imagine (AP-HP), 75015 Paris, France. Electronic address: genevieve.baujat@nck.aphp.fr.
  • Debiais F; Service de rhumatologie, CHU de Poitiers, 86021 Poitiers Cedex, France. Electronic address: francoise.debiais@chu-poitiers.fr.
  • Capri Y; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France. Electronic address: yline.capri@aphp.fr.
  • Cohen-Solal M; Department of Rheumatology, INSERM UMR-1132, Lariboisière Hospital and University, Paris Diderot Sorbonne, Paris, France. Electronic address: martine.cohen-solal@inserm.fr.
  • Parent P; Service de Génétique Clinique, CHU Brest, Brest F-29200, France. Electronic address: philippe.parent@chu-brest.fr.
  • Chiesa J; Department of Genetics, University Hospital, Nîmes, France. Electronic address: jean.chiesa@chu-nimes.fr.
  • Dieux A; Service de Génétique Clinique, CHU, Lille, France. Electronic address: anne.dieux@chru-lille.fr.
  • Petit F; Service de Génétique Clinique, CHU, Lille, France. Electronic address: florence.petit@chru-lille.fr.
  • Roume J; Unité de Génétique Médicale, Centre Intercommunal Poissy-St-Germain en Laye, Poissy, France. Electronic address: drjroume@gmail.com.
  • Isnard M; Gynécologie Obstétrique, Centre Hospitalier de Mulhouse, 68051 Mulhouse Cedex, France.
  • Cormier-Daire V; Université Paris-Descartes, Sorbonne Paris Cité, Institut Imagine and INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France. Electronic address: valerie.cormier-daire@inserm.fr.
  • Linglart A; APHP, Bicêtre Paris Sud, Department of Pediatric Endocrinology and Diabetology for Children, Le Kremlin Bicêtre 94270, France; APHP, Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme D'expertise Paris Sud, Le Kremlin Bicêtre 94270, France. Electronic address: agnes.linglar
  • Millán JL; Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA. Electronic address: millan@sanfordburnham.org.
  • Salles JP; Endocrinologie, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, CHU de Toulouse, Toulouse Cedex 9, France. Electronic address: salles.jp@chu-toulouse.fr.
  • Muti C; Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, 78150 Le Chesnay, France. Electronic address: cmuti@ch-versailles.fr.
  • Simon-Bouy B; Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, 78150 Le Chesnay, France. Electronic address: bsimon-bouy@ch-versailles.fr.
  • Mornet E; Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, 78150 Le Chesnay, France. Electronic address: emornet@ch-versailles.fr.
Mol Genet Metab ; 116(3): 215-20, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26432670
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipofosfatasia Tipo de estudo: Diagnostic_studies Limite: Adult / Aged / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Metab Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipofosfatasia Tipo de estudo: Diagnostic_studies Limite: Adult / Aged / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Metab Ano de publicação: 2015 Tipo de documento: Article