A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

BackgroundOrodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a...

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Veröffentlicht in:	Journal of medical genetics 2016-02, Vol.53 (2), p.98-110
Hauptverfasser:	Prasad, Megana K, Geoffroy, Véronique, Vicaire, Serge, Jost, Bernard, Dumas, Michael, Le Gras, Stéphanie, Switala, Marzena, Gasse, Barbara, Laugel-Haushalter, Virginie, Paschaki, Marie, Leheup, Bruno, Droz, Dominique, Dalstein, Amelie, Loing, Adeline, Grollemund, Bruno, Muller-Bolla, Michèle, Lopez-Cazaux, Séréna, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Beal, Tiphaine, Kaiser, Anne-Sophie, Moog, Ute, Richard, Béatrice, Morrier, Jean-Jacques, Duprez, Jean-Pierre, Odent, Sylvie, Bailleul-Forestier, Isabelle, Rousset, Monique Marie, Merametdijan, Laure, Toutain, Annick, Joseph, Clara, Giuliano, Fabienne, Dahlet, Jean-Christophe, Courval, Aymeric, El Alloussi, Mustapha, Laouina, Samir, Soskin, Sylvie, Guffon, Nathalie, Dieux, Anne, Doray, Bérénice, Feierabend, Stephanie, Ginglinger, Emmanuelle, Fournier, Benjamin, de la Dure Molla, Muriel, Alembik, Yves, Tardieu, Corinne, Clauss, François, Berdal, Ariane, Stoetzel, Corinne, Manière, Marie Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès
Format:	Artikel
Sprache:	eng
Schlagworte:	Amelogenesis Imperfecta - genetics Autoantigens - genetics Chromosome Deletion Chromosome Disorders - genetics Chromosomes, Human, Pair 11 - genetics Cohort Studies Collagen Type XVII Coloboma - genetics Dentin Dysplasia - genetics Deoxyribonucleic acid Disease DNA France Genetic disorders Genomes Hearing Loss, Sensorineural - genetics High-Throughput Nucleotide Sequencing - methods Humans Laboratories Life Sciences Methods Mutation Non-Fibrillar Collagens - genetics Patients Reproducibility of Results Tooth Abnormalities - genetics
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