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Page 1
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K. Schoenmakers E, et al. J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15. J Clin Invest. 2010. PMID: 21084748 Free PMC article.
Giant intracranial hemangioma in a neonate.
Jalloh I, Dean AF, O'Donovan DG, Cross J, Garnett MR, Santarius T. Jalloh I, et al. Acta Neurochir (Wien). 2014 Jun;156(6):1151-4. doi: 10.1007/s00701-014-2007-y. Epub 2014 Feb 5. Acta Neurochir (Wien). 2014. PMID: 24497024
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Pizzamiglio C, Lahiri N, Nirmalananthan N, Sood B, Somalanka S, Ostrowski P, Phadke R, O'Donovan DG, Muntoni F, Quinlivan R. Pizzamiglio C, et al. Neuromuscul Disord. 2020 Jul;30(7):566-571. doi: 10.1016/j.nmd.2020.05.004. Epub 2020 May 21. Neuromuscul Disord. 2020. PMID: 32522502
Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.
Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW. Lax NZ, et al. J Neuropathol Exp Neurol. 2013 Feb;72(2):164-75. doi: 10.1097/NEN.0b013e31828129c5. J Neuropathol Exp Neurol. 2013. PMID: 23334599
Successful treatment of residual pituitary adenoma in persistent acromegaly following localisation by 11C-methionine PET co-registered with MRI.
Koulouri O, Kandasamy N, Hoole AC, Gillett D, Heard S, Powlson AS, O'Donovan DG, Annamalai AK, Simpson HL, Akker SA, Aylwin SJ, Brooke A, Buch H, Levy MJ, Martin N, Morris D, Parkinson C, Tysome JR, Santarius T, Donnelly N, Buscombe J, Boros I, Smith R, Aigbirhio F, Antoun NM, Burnet NG, Cheow H, Mannion RJ, Pickard JD, Gurnell M. Koulouri O, et al. Eur J Endocrinol. 2016 Nov;175(5):485-498. doi: 10.1530/EJE-16-0639. Epub 2016 Aug 25. Eur J Endocrinol. 2016. PMID: 27562400 Free article.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
11C-methionine PET aids localization of microprolactinomas in patients with intolerance or resistance to dopamine agonist therapy.
Bashari WA, van der Meulen M, MacFarlane J, Gillett D, Senanayake R, Serban L, Powlson AS, Brooke AM, Scoffings DJ, Jones J, O'Donovan DG, Tysome J, Santarius T, Donnelly N, Boros I, Aigbirhio F, Jefferies S, Cheow HK, Mendichovszky IA, Kolias AG, Mannion R, Koulouri O, Gurnell M. Bashari WA, et al. Pituitary. 2022 Aug;25(4):573-586. doi: 10.1007/s11102-022-01229-9. Epub 2022 May 24. Pituitary. 2022. PMID: 35608811 Free PMC article.
386 results