Ausgewählte fachwissenschaftliche Publikationen

  • Dias RP, Bogdarina I, Cazier JB, Buchanan C, Donaldson MC, Johnston LB, Hokken-Koelega AC, Clark AJ. Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome. J Clin Endocrinol Metab. 2012 Aug 31.

  • Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL. Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance. J Endocrinol Invest. 2011 Apr;34(4):296-9.

  • Johnston LB, Ester W, Caliebe J, Molinas C, Wollmann H, Fryklund L, Clark AJ, Ranke MB, Tauber M, Hokken Koelega A, Savage MO. Network of European studies of genes in growth (NESTEGG). Horm Res. 2009 Apr;71 Suppl 2:48-54.

  • Srirangalingam U, Khoo B, Walker L, MacDonald F, Skelly RH, George E, Spooner D, Johnston LB, Monson JP, Grossman AB, Drake WM, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL. Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours. Endocr Relat Cancer. 2009 Jun;16(2):515-25.

  • Misra S, Johnston LB, Drake WM. Severe hypernatraemia associated with growth hormone replacement therapy in a patient with septo-optic dysplasia. 2010 Jun;13(2):186-8.

  • Johnston LB. Individualization of growth hormone therapy. Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):517-24.

  • Johnston LB, Savage MO. The small for gestational age child. Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):vii.

  • Johnston LB, Woods KA, Rose SJ, Clark AJ, Savage MO. The broad spectrum of inherited growth hormone insensitivity syndrome. Trends Endocrinol Metab. 1998 Aug;9(6):228-32.

  • Bossowski AT, Reddy V, Perry LA, Johnston LB, Banerjee K, Blair JC, Savage MO. Clinical and endocrine features and long-term outcome of Graves‘ disease in early childhood. J Endocrinol Invest. 2007 May;30(5):388-92.

  • Tauber M, Ester W, Auriol F, Molinas C, Fauvel J, Caliebe J, Nugent T, Fryklund L, Ranke MB, Savage MO, Clark AJ, Johnston LB, Hokken-Koelega AC; NESTEGG group. GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism. Clin Endocrinol (Oxf). 2007 Sep;67(3):457-61.

  • Peters CJ, Nugent T, Perry LA, Davies K, Morel Y, Drake WM, Savage MO, Johnston LB. Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family. Horm Res. 2007;67(4):189-93.

  • Priesemann M, Davies KM, Perry LA, Drake WM, Chew SL, Monson JP, Savage MO, Johnston LB. Benefits of screening in von Hippel-Lindau disease–comparison of morbidity associated with initial tumours in affected parents and children. Horm Res. 2006;66(1):1-5.

  • Johnston LB, Savage MO. Should recombinant human growth hormone therapy be used in short small for gestational age children? Arch Dis Child. 2004 Aug;89(8):740-4.

  • Johnston LB, Dahlgren J, Leger J, Gelander L, Savage MO, Czernichow P, Wikland KA, Clark AJ. Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations. J Clin Endocrinol Metab. 2003 Oct;88(10):4805-10.

  • Johnston LB, Arends N, Dahlgren J, Leger J, Czernichow P, Albertsson-Wikland K, van Duijn C, Hokken-Koelega A, Savage MO, Clark AJ. Gene association studies in small for gestational age infants. J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1459.

  • Johnston LB, Fryklund L, Clark AJ, Hokken-Koelega A, Ranke M, Savage MO, Tauber M. NESTEGG: aims and strategies. Northern European Study of Genes in Growth. J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1441-2.

  • Johnston LB, Clark AJ, Savage MO. Genetic factors contributing to birth weight. Arch Dis Child Fetal Neonatal Ed. 2002 Jan;86(1):F2-3.

  • Savage MO, Lebrethon MC, Blair JC, Ho JT, Johnston LB, Lienhardt A, Clark AJ, Chaussain JL. Growth abnormalities associated with adrenal disorders and their management. Horm Res. 2001;56 Suppl 1:19-23. Review.

  • Savage MO, Woods KA, Johnston LB, Postel-Vinay MC, Amselem S, Clark AJ. Growth hormone insensitivity. Acta Biomed Ateneo Parmense. 2000;71(3-4):111-7.

  • Johnston LB, Chew SL, Lowe D, Reznek R, Monson JP, Savage MO. Investigating familial endocrine neoplasia syndromes in children. Horm Res. 2001;55 Suppl 1:31-5. Review.

  • Savage MO, Lienhardt A, Lebrethon MC, Johnston LB, Huebner A, Grossman AB, Afshar F, Plowman PN, Besser GM. Cushing’s disease in childhood: presentation, investigation, treatment and long-term outcome. Horm Res. 2001;55 Suppl 1:24-30.

  • MacFarlane CE, Brown DC, Johnston LB, Patton MA, Dunger DB, Savage MO, McKenna WJ, Kelnar CJ. Growth hormone therapy and growth in children with Noonan’s syndrome: results of 3 years‘ follow-up. J Clin Endocrinol Metab. 2001 May;86(5):1953-6.

  • Johnston LB, Pashankar F, Camacho-Hübner C, Savage MO, Clark AJ. Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature. Clin Endocrinol (Oxf). 2000 Apr;52(4):463-9.

  • Johnston LB, Savage MO. Partial growth hormone insensitivity. J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:251-7. Review.

  • Johnston LB, Chew SL, Trainer PJ, Reznek R, Grossman AB, Besser GM, Monson JP, Savage MO. Screening children at risk of developing inherited endocrine neoplasia syndromes. Clin Endocrinol (Oxf). 2000 Feb;52(2):127-36. Review.

  • Johnston LB, Leger J, Savage MO, Clark AJ, Czernichow P. The insulin-like growth factor-I (IGF-I) gene in individuals born small for gestational age (SGA). Clin Endocrinol (Oxf). 1999 Oct;51(4):423-7.

  • Savage MO, Woods KA, Johnston LB, Postel-Vinay MC, Amselem S, Clark AJ. Defects of the growth hormone receptor and their clinical implications. Growth Horm IGF Res. 1999 Apr;9 Suppl A:57-61.

  • Johnston LB, Borzyskowski M. Bladder dysfunction and neurological disability at presentation in closed spina bifida. Arch Dis Child. 1998 Jul;79(1):33-8.

  • Johnston LB, Grossmann AB, Plowman PN, Besser GM, Savage MO. Normal final height and apparent cure after pituitary irradiation for Cushing’s disease in childhood: long-term follow-up of anterior pituitary function. Clin Endocrinol (Oxf). 1998 May;48(5):663-7.

  • Johnston LB, Carroll MJ, Britton KE, Lowe DG, Shand W, Besser GM, Grossman AB. The accuracy of parathyroid gland localization in primary hyperparathyroidism using sestamibi radionuclide imaging. J Clin Endocrinol Metab. 1996 Jan;81(1):346-52.


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