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Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT. Turton JP, et al. Among authors: barton j. J Clin Endocrinol Metab. 2005 Aug;90(8):4762-70. doi: 10.1210/jc.2005-0570. Epub 2005 May 31. J Clin Endocrinol Metab. 2005. PMID: 15928241
Hypothyroidism in preterm infants following normal screening.
Hallett A, Evans C, Moat S, Barton J, Warner J, Gregory JW. Hallett A, et al. Among authors: barton j. Ann Clin Biochem. 2011 Nov;48(Pt 6):572-4. doi: 10.1258/acb.2011.010251. Epub 2011 Sep 8. Ann Clin Biochem. 2011. PMID: 21903704
Infantile McCune-Albright syndrome.
Davies JH, Barton JS, Gregory JW, Mills C. Davies JH, et al. Among authors: barton js. Pediatr Dermatol. 2001 Nov-Dec;18(6):504-6. doi: 10.1046/j.1525-1470.2001.1862003.x. Pediatr Dermatol. 2001. PMID: 11841638
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark Å, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: barton j. Nat Genet. 2014 Aug;46(8):812-814. doi: 10.1038/ng.3040. Epub 2014 Jul 20. Nat Genet. 2014. PMID: 25038750 Free PMC article.
2,137 results