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Mutations in BOREALIN cause thyroid dysgenesis.
Carré, Aurore; Stoupa, Athanasia; Kariyawasam, Dulanjalee; Gueriouz, Manelle; Ramond, Cyrille; Monus, Taylor; Léger, Juliane; Gaujoux, Sébastien; Sebag, Frédéric; Glaser, Nicolas; Zenaty, Delphine; Nitschke, Patrick; Bole-Feysot, Christine; Hubert, Laurence; Lyonnet, Stanislas; Scharfmann, Raphaël; Munnich, Arnold; Besmond, Claude; Taylor, William; Polak, Michel.
Afiliação
  • Carré A; INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Stoupa A; IMAGINE Institute affiliate, Paris, France.
  • Kariyawasam D; IMAGINE Institute affiliate, Paris, France.
  • Gueriouz M; Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
  • Ramond C; INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Monus T; Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
  • Léger J; IMAGINE Institute affiliate, Paris, France.
  • Gaujoux S; INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Sebag F; Department of Biological Sciences, University of Toledo, Toledo, Ohio, USA.
  • Glaser N; Pediatric Endocrinology Unit, Hôpital Universitaire Robert Debré, AP-HP, Paris, France.
  • Zenaty D; RARE Disorder Center: Centre des Maladies Endocriniennes Rares de la Croissance.
  • Nitschke P; Department of Digestive and Endocrine Surgery, Cochin Hospital, AP-HP, Université Paris Descartes, Paris, France.
  • Bole-Feysot C; Department of General, Endocrine and Metabolic Surgery, Hopital de la Conception, Marseille, France.
  • Hubert L; INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Lyonnet S; Pediatric Endocrinology Unit, Hôpital Universitaire Robert Debré, AP-HP, Paris, France.
  • Scharfmann R; RARE Disorder Center: Centre des Maladies Endocriniennes Rares de la Croissance.
  • Munnich A; Bioinformatics Platform, Paris Descartes University, IMAGINE Institute, Paris, France.
  • Besmond C; Genomic Platform, INSERM UMR 1163, Paris Descartes Sorbonne Paris Cite University, Imagine Institute, Paris, France.
  • Taylor W; INSERM U1163, IMAGINE Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Polak M; INSERM U1163, IMAGINE Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Hum Mol Genet ; 26(3): 599-610, 2017 02 01.
Article em En | MEDLINE | ID: mdl-28025328
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Disgenesia da Tireoide Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Disgenesia da Tireoide Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França