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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. 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
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium. Hernández-Ramírez LC, et al. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869. J Clin Endocrinol Metab. 2015. PMID: 26186299 Free PMC article.
Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes.
Shariq OA, Lines KE, English KA, Jafar-Mohammadi B, Prentice P, Casey R, Challis BG, Selberherr A, Boon H, Cranston T, Ryan FJ, Mihai R, Healy U, Kurzawinski T, Dattani MT, Bancos I, Dy BM, Lyden ML, Young WF Jr, McKenzie TJ, Richards D, Thakker RV. Shariq OA, et al. Among authors: ryan fj. Surgery. 2022 Jan;171(1):77-87. doi: 10.1016/j.surg.2021.04.041. Epub 2021 Jun 26. Surgery. 2022. PMID: 34183184
Corrigendum to 'Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes' [Surgery 171 (2021) 77-87].
Shariq OA, Lines KE, English KA, Jafar-Mohammadi B, Prentice P, Casey R, Challis BG, Selberherr A, Boon H, Cranston T, Ryan FJ, Mihai R, Healy U, Kurzawinski T, Dattani MT, Bancos I, Dy BM, Lyden ML, Young WF Jr, McKenzie TJ, Richards D, Thakker RV. Shariq OA, et al. Among authors: ryan fj. Surgery. 2022 Jun;171(6):1708-1711. doi: 10.1016/j.surg.2022.03.013. Epub 2022 Apr 12. Surgery. 2022. PMID: 35428475 No abstract available.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study.
Bacila I, Lawrence NR, Mahdi S, Alvi S, Cheetham TD, Crowne E, Das U, Dattani MT, Davies JH, Gevers E, Krone RE, Kyriakou A, Patel L, Randell T, Ryan FJ, Keevil B, Ahmed SF, Krone NP. Bacila I, et al. Among authors: ryan fj. Eur J Endocrinol. 2022 Sep 16;187(4):543-553. doi: 10.1530/EJE-21-1109. Print 2022 Oct 1. Eur J Endocrinol. 2022. PMID: 36001026 Free PMC article.
145 results