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Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV. Rogers A, et al. Among authors: allgrove j. J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7. J Clin Endocrinol Metab. 2014. PMID: 24708097 Free PMC article.
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Among authors: allgrove j. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A. Biebermann H, et al. Among authors: allgrove j. J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250. J Clin Endocrinol Metab. 2019. PMID: 30312418 Free PMC article.
100 results