Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance

por Kirk, J., Porter, K. M., Parker, V., Barroso, I., O’Rahilly, S., Hendriksz, C., Semple, R. K.
Publicado 2010

Analytical and clinical challenges in a patient with concurrent type 1 diabetes, subcutaneous insulin resistance and insulin autoimmune syndrome

por Jassam, N, Amin, N, Holland, P, Semple, R K, Halsall, D J, Wark, G, Barth, J H
Publicado 2014

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations

por Collins, S. C., Luan, J., Thompson, A. J., Daly, A., Semple, R. K., O’Rahilly, S., Wareham, N. J., Barroso, I.
Publicado 2007

Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2: C48R: A Novel Mutation in AGPAT2

por Ramanathan, N., Ahmed, M., Raffan, E., Stewart, C. L., O’Rahilly, S., Semple, R. K., Raef, H., Rochford, J. J.
Publicado 2012

Growth and hormone profiling in children with congenital melanocytic naevi

por Waelchli, R., Williams, J., Cole, T., Dattani, M., Hindmarsh, P., Kennedy, H., Martinez, A., Khan, S., Semple, R.K., White, A., Sebire, N., Healy, E., Moore, G., Kinsler, V.A.
Publicado 2015

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

por Raffan, E., Soos, M. A., Rocha, N., Tuthill, A., Thomsen, A. R., Hyden, C. S., Gregory, J. W., Hindmarsh, P., Dattani, M., Cochran, E., Al Kaabi, J., Gorden, P., Barroso, I., Morling, N., O’Rahilly, S., Semple, R. K.
Publicado 2011

Analysis of TBC1D4 in patients with severe insulin resistance

por Dash, S., Langenberg, C., Fawcett, K. A., Semple, R. K., Romeo, S., Sharp, S., Sano, H., Lienhard, G. E., Rochford, J. J., Howlett, T., Massoud, A. F., Hindmarsh, P., Howell, S. J., Wilkinson, R. J., Lyssenko, V., Groop, L., Baroni, M. G., Barroso, I., Wareham, N. J., O’ Rahilly, S., Savage, D. B.
Publicado 2010

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, s...

por Luu, M., Vabres, P., Devilliers, H., Loffroy, R., Phan, A., Martin, L., Morice-Picard, F., Petit, F., Willems, M., Bessis, D., Jacquemont, M. L., Maruani, A., Chiaverini, C., Mirault, T., Clayton-Smith, J., Carpentier, M., Fleck, C., Maurer, A., Yousfi, M., Parker, V. E. R., Semple, R. K., Bardou, M., Faivre, L.
Publicado 2021