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A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
Roche EF, McGowan A, Koulouri O, Turgeon MO, Nicholas AK, Heffernan E, El-Khairi R, Abid N, Lyons G, Halsall D, Bonomi M, Persani L, Dattani MT, Gurnell M, Bernard DJ, Schoenmakers N. Roche EF, et al. Among authors: nicholas ak. Clin Endocrinol (Oxf). 2018 Dec;89(6):813-823. doi: 10.1111/cen.13827. Epub 2018 Oct 1. Clin Endocrinol (Oxf). 2018. PMID: 30086211 Free PMC article.
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N. Nicholas AK, et al. J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. doi: 10.1210/jc.2016-1879. Epub 2016 Aug 15. J Clin Endocrinol Metab. 2016. PMID: 27525530 Free PMC article.
Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.
Vasudevan P, Powell C, Nicholas AK, Scudamore I, Greening J, Park SM, Schoenmakers N. Vasudevan P, et al. Among authors: nicholas ak. Endocrinol Diabetes Metab Case Rep. 2017 Jun 7;2017:17-0040. doi: 10.1530/EDM-17-0040. eCollection 2017. Endocrinol Diabetes Metab Case Rep. 2017. PMID: 28620499 Free PMC article.
32 results