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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Rouzier, Cécile; Chaussenot, Annabelle; Serre, Valérie; Fragaki, Konstantina; Bannwarth, Sylvie; Ait-El-Mkadem, Samira; Attarian, Shahram; Kaphan, Elsa; Cano, Aline; Delmont, Emilien; Sacconi, Sabrina; Mousson de Camaret, Bénédicte; Rio, Marlène; Lebre, Anne-Sophie; Jardel, Claude; Deschamps, Romain; Richelme, Christian; Pouget, Jean; Chabrol, Brigitte; Paquis-Flucklinger, Véronique.
Affiliation
  • Rouzier C; 1] Department of Medical Genetics, National Centre for Mitochondrial diseases, Nice Teaching Hospital, Nice, France [2] IRCAN, CNRS UMR 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France.
  • Chaussenot A; Department of Medical Genetics, National Centre for Mitochondrial diseases, Nice Teaching Hospital, Nice, France.
  • Serre V; Jacques Monod Institute, CNRS-University Paris Diderot, Sorbonne, Paris, France.
  • Fragaki K; 1] Department of Medical Genetics, National Centre for Mitochondrial diseases, Nice Teaching Hospital, Nice, France [2] IRCAN, CNRS UMR 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France.
  • Bannwarth S; 1] Department of Medical Genetics, National Centre for Mitochondrial diseases, Nice Teaching Hospital, Nice, France [2] IRCAN, CNRS UMR 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France.
  • Ait-El-Mkadem S; 1] Department of Medical Genetics, National Centre for Mitochondrial diseases, Nice Teaching Hospital, Nice, France [2] IRCAN, CNRS UMR 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France.
  • Attarian S; Department of Neurology, Timone Hospital, Marseille Teaching Hospital, Marseille, France.
  • Kaphan E; Department of Neurology, Timone Hospital, Marseille Teaching Hospital, Marseille, France.
  • Cano A; Department of Neuropediatrics, Timone Hospital, Marseille Teaching Hospital, Marseille, France.
  • Delmont E; Department of Neurology, Nice Teaching Hospital, Nice, France.
  • Sacconi S; Department of Neurology, Nice Teaching Hospital, Nice, France.
  • Mousson de Camaret B; Department of Metabolic Diseases, Biology and Pathology Centre Est, Lyon Teaching Hospital, Lyon, France.
  • Rio M; Department of Medical Genetics, Necker Hospital, Paris Teaching Hospital, Paris, France.
  • Lebre AS; Department of Medical Genetics, Necker Hospital, Paris Teaching Hospital, Paris, France.
  • Jardel C; Department of Molecular and Chromosomal Genetics, Pitié-Salpétrière Hospital, Paris Teaching Hospital, Paris, France.
  • Deschamps R; Department of Neuromuscular disorders, Fort-de-France Teaching Hospital, Martinique, France.
  • Richelme C; Department of Pediatrics, Lenval Hospital, Nice Teaching Hospital, Nice, France.
  • Pouget J; Department of Neurology, Timone Hospital, Marseille Teaching Hospital, Marseille, France.
  • Chabrol B; Department of Neuropediatrics, Timone Hospital, Marseille Teaching Hospital, Marseille, France.
  • Paquis-Flucklinger V; 1] Department of Medical Genetics, National Centre for Mitochondrial diseases, Nice Teaching Hospital, Nice, France [2] IRCAN, CNRS UMR 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France.
Eur J Hum Genet ; 22(4): 542-50, 2014 Apr.
Article in En | MEDLINE | ID: mdl-23921535
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Rearrangement / DNA-Directed DNA Polymerase Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: France Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Rearrangement / DNA-Directed DNA Polymerase Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: France Country of publication: United kingdom