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Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Abi Habib, Walid; Azzi, Salah; Brioude, Frédéric; Steunou, Virginie; Thibaud, Nathalie; Das Neves, Cristina; Le Jule, Marilyne; Chantot-Bastaraud, Sandra; Keren, Boris; Lyonnet, Stanislas; Michot, Caroline; Rossi, Massimiliano; Pasquier, Laurent; Gicquel, Christine; Rossignol, Sylvie; Le Bouc, Yves; Netchine, Irène.
Affiliation
  • Abi Habib W; INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Azzi S; INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Brioude F; INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Steunou V; INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France.
  • Thibaud N; Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Das Neves C; Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Le Jule M; Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Chantot-Bastaraud S; INSERM U933, Service de Génétique et D'Embryologie Médicales, Paris 75571, France, AP-HP, Hôpital Trousseau, Service de Génétique et D'Embryologie Médicales, Paris 75571, France.
  • Keren B; Département de Génétique, CRICM UPMC INSERM UMR_S975/CNRS UMR 7225, GH Pitié-Salpêtrière, APHP, Paris, France.
  • Lyonnet S; University Paris Descartes-Sorbonne, Paris Cité, Institut Imagine, INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France.
  • Michot C; University Paris Descartes-Sorbonne, Paris Cité, Institut Imagine, INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France.
  • Rossi M; Service de Génétique, Centre de Référence des Anomalies du Développement Centre-Est, Hospices Civils de Lyon, Bron, France, INSERM U1028 UMR CNRS 5292, UCBL, CRNL TIGER Team, Lyon, France.
  • Pasquier L; Service de Génétique Médicale-CLAD Ouest, Hôpital Sud, CHU Rennes, Rennes, France and.
  • Gicquel C; Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, VIC 3004, Australia.
  • Rossignol S; INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Le Bouc Y; INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France.
  • Netchine I; INSERM, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris F-75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France, irene.netchine@trs.aphp.fr.
Hum Mol Genet ; 23(21): 5763-73, 2014 Nov 01.
Article in En | MEDLINE | ID: mdl-24916376
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Beckwith-Wiedemann Syndrome / Insulin-Like Growth Factor II / Genomic Imprinting / DNA Methylation / Octamer Transcription Factor-3 / SOXB1 Transcription Factors / RNA, Long Noncoding Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2014 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Beckwith-Wiedemann Syndrome / Insulin-Like Growth Factor II / Genomic Imprinting / DNA Methylation / Octamer Transcription Factor-3 / SOXB1 Transcription Factors / RNA, Long Noncoding Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2014 Type: Article Affiliation country: France