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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Adiposity in Children Born Small for Gestational Age Is Associated With β-Cell Function, Genetic Variants for Insulin Resistance, and Response to Growth Hormone Treatment.
Thankamony A, Jensen RB, O'Connell SM, Day F, Kirk J, Donaldson M, Ivarsson SA, Söder O, Roche E, Hoey H, Ong KK, Dunger DB, Juul A. Thankamony A, et al. J Clin Endocrinol Metab. 2016 Jan;101(1):131-42. doi: 10.1210/jc.2015-3019. Epub 2015 Nov 20. J Clin Endocrinol Metab. 2016. PMID: 26588449 Free PMC article.
A randomised controlled trial evaluating IGF1 titration in contrast to current GH dosing strategies in children born small for gestational age: the North European Small-for-Gestational-Age Study.
Jensen RB, Thankamony A, O'Connell SM, Kirk J, Donaldson M, Ivarsson SA, Söder O, Roche E, Hoey H, Dunger DB, Juul A. Jensen RB, et al. Eur J Endocrinol. 2014 Oct;171(4):509-18. doi: 10.1530/EJE-14-0419. Epub 2014 Jul 30. Eur J Endocrinol. 2014. PMID: 25080293 Clinical Trial.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
Lyme borreliosis.
O'Connell S, Wolfs TF. O'Connell S, et al. Pediatr Infect Dis J. 2014 Apr;33(4):407-9. doi: 10.1097/INF.0000000000000248. Pediatr Infect Dis J. 2014. PMID: 24476954 Review. No abstract available.
Lyme disease: a review.
O'Connell S. O'Connell S. Commun Dis Rep CDR Rev. 1993 Jul 16;3(8):R111-5. Commun Dis Rep CDR Rev. 1993. PMID: 7693167 Review.
158 results