Case Report: Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation

Por Carmody, D., Ladsaria, S. S., Buikema, R. K., Semple, R. K., Greeley, S. A. W.
Publicado no Diabet Med (2016)

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 em 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 em 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 em 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 em 2012

Erratum to: 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 no JIMD Rep (2012)

Treatment of Type B Insulin Resistance: A Novel Approach to Reduce Insulin Receptor Autoantibodies

Por Malek, R., Chong, A. Y., Lupsa, B. C., Lungu, A. O., Cochran, E. K., Soos, M. A., Semple, R. K., Balow, J. E., Gorden, P.
Publicado em 2010

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 no Br J Dermatol (2015)

IRS2 variants and syndromes of severe insulin resistance

Por Bottomley, W. E., Soos, M. A., Adams, C., Guran, T., Howlett, T. A., Mackie, A., Miell, J., Monson, J. P., Temple, R., Tenenbaum-Rakover, Y., Tymms, J., Savage, D. B., Semple, R.K., O'Rahilly, S., Barroso, I.
Publicado em 2009

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 em 2011

An Activating Mutation of AKT2 and Human Hypoglycemia

Por Hussain, K., Challis, B., Rocha, N., Payne, F., Minic, M., Thompson, A., Daly, A., Scott, C., Harris, J., Smillie, B.J.L., Savage, D.B., Ramaswami, U., De Lonlay, P., O’Rahilly, S., Barroso, I., Semple, R.K.
Publicado em 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 em 2010