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The growth hormone-insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders.

Blum WF, Alherbish A, Alsagheir A, El Awwa A, Kaplan W, Koledova E, Savage MO.

Endocr Connect. 2018 Jun;7(6):R212-R222. doi: 10.1530/EC-18-0099. Epub 2018 May 3. Review.


Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.

Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA, Storr HL.

Eur J Endocrinol. 2018 May;178(5):481-489. doi: 10.1530/EJE-18-0042. Epub 2018 Mar 2.


Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.

Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS, Backeljauw PF, Rosenfeld RG, Aisenberg J, Dauber A, Hwa V.

J Endocr Soc. 2017 Apr 1;1(4):345-358. doi: 10.1210/js.2016-1119. Epub 2017 Mar 8.


Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.

Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL.

Eur J Endocrinol. 2017 Dec;177(6):485-501. doi: 10.1530/EJE-17-0453. Epub 2017 Sep 4.


Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.

Rydzewska M, Krawczuk-Rybak M, Zajkowska A, Jurczuk N, Polnik D, Szalecki M, MoszczyƄska E, Savage MO, Bossowski A.

J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):475-478. doi: 10.1515/jpem-2016-0339.


Long-term outcomes of children treated for Cushing's disease: a single center experience.

Yordanova G, Martin L, Afshar F, Sabin I, Alusi G, Plowman NP, Riddoch F, Evanson J, Matson M, Grossman AB, Akker SA, Monson JP, Drake WM, Savage MO, Storr HL.

Pituitary. 2016 Dec;19(6):612-624.


Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination.

Shapiro L, Elahi S, Riddoch F, Perry LA, Martin L, Akker SA, Monson JP, Drake WM, Grossman AB, Savage MO, Storr HL.

Horm Res Paediatr. 2016;86(1):21-6. doi: 10.1159/000446913. Epub 2016 Jun 10.


Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders.

Savage MO, Backeljauw PF, Calzada R, Cianfarani S, Dunkel L, Koledova E, Wit JM, Yoo HW.

Horm Res Paediatr. 2016;85(5):325-32. doi: 10.1159/000444525. Epub 2016 Apr 8. Review.


Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline.

Nieman LK, Biller BM, Findling JW, Murad MH, Newell-Price J, Savage MO, Tabarin A; Endocrine Society.

J Clin Endocrinol Metab. 2015 Aug;100(8):2807-31. doi: 10.1210/jc.2015-1818. Epub 2015 Jul 29.


MANAGEMENT OF ENDOCRINE DISEASE: Paediatric Cushing's disease.

Storr HL, Savage MO.

Eur J Endocrinol. 2015 Jul;173(1):R35-45. doi: 10.1530/EJE-15-0013. Review.


Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.

Storr HL, Dunkel L, Kowalczyk J, Savage MO, Metherell LA.

Eur J Endocrinol. 2015 Feb;172(2):151-61. doi: 10.1530/EJE-14-0541. Epub 2014 Nov 19.


Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing's syndrome.

Savage MO, Storr HL.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1029-31. doi: 10.1515/jpem-2014-0400. No abstract available.


Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO, Walker JM.

J Endocrinol Invest. 2015 Apr;38(4):407-12. doi: 10.1007/s40618-014-0195-1. Epub 2014 Oct 29.


Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJ, Storr HL, Metherell LA.

J Clin Endocrinol Metab. 2014 Aug;99(8):E1556-63. doi: 10.1210/jc.2013-3844. Epub 2014 Mar 6.


Paediatric pituitary adenomas: a decade of change.

Guaraldi F, Storr HL, Ghizzoni L, Ghigo E, Savage MO.

Horm Res Paediatr. 2014;81(3):145-55. doi: 10.1159/000357673. Epub 2014 Feb 11. Review.


Association analysis of ten candidate genes in a large multinational cohort of small for gestational age children and children with idiopathic short stature (NESTEGG study).

de Graaff LC, Clark AJ, Tauber M, Ranke MB, Johnston LB, Caliebe J, Molinas C, Amin N, van Duijn C, Wollmann H, Wallaschofski H, Savage MO, Hokken-Koelega AC.

Horm Res Paediatr. 2013;80(6):466-76. doi: 10.1159/000355409. Epub 2013 Nov 23.


Endonasal endoscopic transsphenoidal pituitary surgery: early experience and outcome in paediatric Cushing's disease.

Storr HL, Drake WM, Evanson J, Matson M, Berney DM, Grossman AB, Akker SA, Monson JP, Alusi G, Savage MO, Sabin I.

Clin Endocrinol (Oxf). 2014 Feb;80(2):270-6. doi: 10.1111/cen.12275. Epub 2013 Jul 19.


Mathematical modelling to restore circulating IGF-1 concentrations in children with Crohn's disease-induced growth failure: a pharmacokinetic study.

Rao A, Standing JF, Naik S, Savage MO, Sanderson IR.

BMJ Open. 2013 May 28;3(5). pii: e002737. doi: 10.1136/bmjopen-2013-002737.


The variability of responses to growth hormone therapy in children with short stature.

Savage MO, Bang P.

Indian J Endocrinol Metab. 2012 Dec;16(Suppl 2):S178-84. doi: 10.4103/2230-8210.104034.


Pediatric Cushing's disease: Management Issues.

Savage MO, Storr HL.

Indian J Endocrinol Metab. 2012 Dec;16(Suppl 2):S171-5. doi: 10.4103/2230-8210.104032.

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