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Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.
Dangouloff-Ros, Volodia; Hadj-Rabia, Smail; Oliveira Santos, Judite; Bal, Elodie; Desguerre, Isabelle; Kossorotoff, Manoelle; An, Isabelle; Smahi, Asma; Bodemer, Christine; Munnich, Arnold; Steffann, Julie; Boddaert, Nathalie.
Afiliação
  • Dangouloff-Ros V; Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France; INSERM U1000, 149 rue de Sèvres, 75015 Paris, France; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité,
  • Hadj-Rabia S; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France; Department of Pediatric Dermatology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France.
  • Oliveira Santos J; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; Genetic unit, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
  • Bal E; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; Genetic unit, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
  • Desguerre I; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France; Department of Pediatric Neurology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France.
  • Kossorotoff M; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France; Department of Pediatric Neurology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France.
  • An I; Department of Neurology, Hôpital de la Pitié-Salpêtrière, AP-HP, 47-83 boulevard de l'hôpital, 75013 Paris, France; University Pierre et Marie Curie, Sorbonne Universités, 4 place Jussieu, 75005 Paris, France.
  • Smahi A; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; Genetic unit, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
  • Bodemer C; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France; Department of Pediatric Dermatology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France.
  • Munnich A; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France; Genetic unit, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
  • Steffann J; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France; Genetic unit, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
  • Boddaert N; Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France; INSERM U1000, 149 rue de Sèvres, 75015 Paris, France; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité,
Mol Genet Metab ; 122(3): 140-144, 2017 11.
Article em En | MEDLINE | ID: mdl-28711407
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Incontinência Pigmentar / Encéfalo / Imageamento por Ressonância Magnética / Neuroimagem / Leucócitos Tipo de estudo: Clinical_trials / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Incontinência Pigmentar / Encéfalo / Imageamento por Ressonância Magnética / Neuroimagem / Leucócitos Tipo de estudo: Clinical_trials / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article