Touraine, Renaud

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Tuberous Sclerosis registry to increase disease Awareness (TOSCA): baseline data on 2093 patients

on behalf of TOSCA consortium and TOSCA investigators, Kingswood, J. C., d’Augères, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., et al. (2017) · Orphanet Journal of Rare Diseases

Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.

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Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

Bar, C., Ghobeira, R., Azzi, R., Ville, D., Riquet, A., Touraine, R., Chemaly, N., & Nabbout, R. (2019) · Epilepsy & Behavior

Adolescent and Pediatric HealthcareTuberous Sclerosis Complex Research

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Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation

Capri, Y., Friesema, E. C. H., Kersseboom, S., Touraine, R., Monnier, A., Eymard-Pierre, E., Des Portes, V., De Michele, G., Brady, A. F., Boespflug-Tanguy, O., et al. (2013) · Human Mutation

Genomics and Rare DiseasesThyroid Disorders and Treatments

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