Publications: Prof Helen Storr
Maharaj AV, Ishida M, Rybak A, Elfeky R, Andrews A, Joshi A, Elmslie F, Joensuu A et al.
(
2024
)
.
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
.
Nature Communications
vol.
15
,
(
1
)
V. MA, Ishida M, Rybak A, Elfeky R, Andrews A, McGuffin LJ, Hwa V, Storr HL
(
2024
)
.
A novel human disorder: QSOX2 deficiency-induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease
.
Endocrine Abstracts
Palau H, Kurup U, N. LDB, Ishida M, Maharaj AV, Davies JH, Storr HL
(
2024
)
.
Rare causes of silver-russell syndrome frequently present with atypical features highlighting important implications for genetic testing and clinical management
.
Endocrine Abstracts
Rahman T, Freer J, Cordani I, Papasavva M, Dunkel L, Walton R, Storr HL, Prendergast AJ et al.
(
2024
)
.
Parental and healthcare provider attitudes towards the Healthy Child Programme in England: a qualitative analysis
.
BMC Public Health
vol.
24
,
(
1
)
Palau H, Kurup U, Ishida M, Maharaj AV, Davies JH, Storr HL
(
2024
)
.
6890 The standard clinical diagnostic criteria for Silver-Russell Syndrome poorly identifies monogenic cases
.
Conference:
British Society of Paediatric Endocrinology and Diabetesa240.1
-
a2a240
.
Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL
(
2024
)
.
Approach to the Patient With Suspected Silver-Russell Syndrome
.
The Journal of Clinical Endocrinology & Metabolism
vol.
109
,
(
10
)
e1889
-
e1901
.
Kurup U, Palau H, Lim D, Ishida M, Vickram MA, Massoud A, Davies J, Storr H
(
2024
)
.
The expanding phenotypic spectrum of silver-russell syndrome may confound decisions to investigate for (epi)genetic causes
.
Endocrine Abstracts
Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant SG, van der Kaay D et al.
(
2024
)
.
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome
.
JCI Insight
vol.
9
,
(
6
)
Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce MR, Evanson J, Flanagan D et al.
(
2024
)
.
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations
.
Nature Reviews Endocrinology
vol.
20
,
(
5
)
278
-
289
.
Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce MR, Evanson J, Flanagan D et al.
(
2024
)
.
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases
.
Nature Reviews Endocrinology
vol.
20
,
(
5
)
290
-
309
.
Ruiz-Babot G, Eceiza A, Abollo-Jiménez F, Malyukov M, Carlone DL, Borges K, Da Costa AR, Qarin S et al.
(
2023
)
.
Generation of glucocorticoid-producing cells derived from human pluripotent stem cells
.
Cell Reports Methods
vol.
3
,
(
11
)
Maharaj A, Cottrell E, Massoud A, Hwa V, Storr H
(
2023
)
.
Dysregulated pathways reveal NOVEL mechanistic insights underlying HMGA2-related growth failure in Silver Russell Syndrome
.
Endocrine Abstracts
Ishida M, Vestito L, Maharaj A, Cipriani V, Smedley D, Storr H
(
2023
)
.
Novel insights into genetic causes of childhood growth failure from patients recruited to the 100 000 Genomes Project
.
Endocrine Abstracts
Palau H, Kurup U, Ishida M, Maharaj AV, Davies JH, Storr HL
(
2023
)
.
Standard clinical diagnostic criteria for Silver-Russell Syndrome frequently overlooks monogenic causes
.
Endocrine Abstracts
Orr J, Thaventhiran T, Freer J, Walton R, Morris JK, Dunkel L, Prendergast AJ, Storr HL
(
2023
)
.
Testing a screening algorithm for the identification of growth-disorders for use in UK children
.
Endocrine Abstracts
Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E et al.
(
2023
)
.
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective
.
Orphanet Journal of Rare Diseases
vol.
18
,
(
1
)
Thaventhiran T, Orr J, Morris JK, Hsu A, Martin L, Davies KM, Harding V, Chapple P et al.
(
2023
)
.
A Digital Health Solution for Child Growth Monitoring at Home: Testing the Accuracy of a Novel “GrowthMonitor” Smartphone Application to Detect Abnormal Height and Body Mass Indices
.
Mayo Clinic Proceedings Digital Health
vol.
1
,
(
4
)
498
-
509
.
Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L et al.
(
2023
)
.
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism
.
Frontiers in Endocrinology
vol.
14
,
Freer J, Orr J, Walton R, Storr HL, Dunkel L, Prendergast AJ
(
2023
)
.
Does stunting still matter in high-income countries?
.
Annals of Human Biology
vol.
50
,
(
1
)
267
-
273
.
Storr HL
(
2023
)
.
Author response
.
British Journal of General Practice
vol.
73
,
(
731
)
255
-
255
.
Savage MO, Donaldson MDC, Davies JH, Storr HL
(
2023
)
.
Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress
.
Hormone Research in Paediatrics
vol.
97
,
(
1
)
22
-
27
.
Storr HL, Freer J, Child J, Davies JH
(
2023
)
.
Assessment of childhood short stature: a GP guide
.
British Journal of General Practice
vol.
73
,
(
729
)
184
-
186
.
Davies JH, Child J, Freer J, Storr HL
(
2023
)
.
Inequalities in the assessment of childhood short stature
.
British Journal of General Practice
vol.
73
,
(
729
)
150
-
151
.
Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P et al.
(
2023
)
.
Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease
.
Disease Models & Mechanisms
vol.
16
,
(
3
)
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB et al.
(
2023
)
.
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature
.
European Journal of Endocrinology
vol.
188
,
(
4
)
353
-
365
.
Freer J, Orr J, Morris JK, Walton R, Dunkel L, Storr HL, Prendergast AJ
(
2022
)
.
Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study
.
BMC Medicine
vol.
20
,
(
1
)
Chatterjee S, Maharaj A, Storr H, Giri D
(
2022
)
.
A rare case of short stature with high total insulin like growth factor 1 (IGF-1) and a novel pregnancy-associated plasma protein A2 (PAPPA2) gene mutation
.
Endocrine Abstracts
Cottrell E, Andrews A, Williams J, Chatterjee S, Edate S, Metherell LA, Hwa V, Storr HL
.
A rare heterozygous IGFI variant impairing IGF-I cleavage and causing postnatal growth failure: a novel disease mechanism offering insights into IGF-I physiology
.
Endocrine Abstracts
.
Cottrell E, Maharaj A, Triggs-Raine B, Thanasupawat T, Williams J, Fujimoto M, A. VDH, De BC et al.
.
Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene
.
Endocrine Abstracts
.
Maharaj A, Andrews A, Chatterjee S, Hwa V, Storr H
.
Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction
.
Endocrine Abstracts
.
Thaventhiran T, Orr J, Morris J, Hsu A, Martin L, Davies K, Harding V, Dunkel L et al.
(
2022
)
.
Development and testing of a novel 'Growth monitor' Smartphone App for growth monitoring and the detection of growth disorders
.
Endocrine Abstracts
Maharaj A, Cottrell E, van DH, de BC, Joustra S, Kant S, van DKD, Inmaculada CDCLM et al.
(
2022
)
.
Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2
.
Endocrine Abstracts
A A, A M, E C, S C, P S, L D, K D, A B et al.
(
2022
)
.
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes
.
T S, HR P, K B, G B, MT D, M M, HL S, RH W et al.
(
2022
)
.
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty
.
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M et al.
(
2022
)
.
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
.
Endocrine Connections
vol.
11
,
(
8
)
White G, Cosier S, Andrews A, Martin L, Willemsen R, Savage MO, Storr HL
(
2022
)
.
Evaluating the sensitivity and specificity of the UK and Dutch growth referral criteria in predicting the diagnosis of pathological short stature
.
BMJ Paediatrics Open
vol.
6
,
(
1
)
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, A ML, J MP, Storr HL
(
2022
)
.
Genetic analysis of patients with undiagnosed short stature identified novel dominant negative GH receptor variants which provide important insights into GHR physiology
.
Endocrine Abstracts
Oleari R, Lettieri A, Manzini S, Paganoni AJJ, Grazioli P, Busnelli M, Storr HL, Massa V et al.
(
2022
)
.
A combined omic analysis revealed autism-linked <i>NLGN3</i> as a new candidate gene associated to GnRH neuron development and disease
.
EUROPEAN JOURNAL OF HUMAN GENETICS
.
vol.
30
,
34
-
34
.
Martin BS, Howard SR, Hughes CR, Storr HL, Willemsen RH
(
2022
)
.
Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
95
,
379
-
379
.
Savage MO, Storr HL
(
2021
)
.
Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches
.
Annals of Pediatric Endocrinology & Metabolism
vol.
26
,
(
4
)
218
-
226
.
Savage MO, Storr HL
(
2021
)
.
GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy
.
Frontiers in Endocrinology
vol.
12
,
White G, Cosier S, Andrews A, Willemsen RH, Savage MO, Storr HL
(
2021
)
.
Evaluating UK Referral Criteria for Children with Short Stature in a Tertiary Paediatric Endocrinology Centre
.
Endocrine Abstracts
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Metherell LA, McCormick PJ, Storr HL
.
Novel dominant negative GH receptor variants provide important insights into GH receptor physiology
.
Endocrine Abstracts
.
Orr J, Freer J, Morris JK, Hancock C, Walton R, Dunkel L, Storr HL, Prendergast AJ
(
2021
)
.
1099 An analysis of stunting in England using national data from the national child measurement programme
.
Archives of Disease in Childhood
.
Conference:
Abstracts
vol.
106
,
a227
-
a227
.
Thaventhiran T, Harding V, Hsu A, Dunkel L, Chapple P, Storr H
(
2021
)
.
Development and testing of a novel 'GrowthMonitor' Smartphone App for growth monitoring and the detection of growth disorders
.
Endocrine Abstracts
Orr J, Freer J, Morris JK, Hancock C, Walton R, Dunkel L, Storr HL, Prendergast AJ
(
2021
)
.
Regional differences in short stature in England between 2006 and 2019: A cross-sectional analysis from the National Child Measurement Programme
.
PLOS Medicine
vol.
18
,
(
9
)
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al.
(
2021
)
.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
.
Nature Genetics
Argentesi G, Azizan E, Zhou J, Cabrera C, O’Toole S, Wu X, Goodchild E, Cottrell E et al.
(
2021
)
.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
.
Nature Genetics
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S et al.
(
2021
)
.
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity
.
J Clin Endocrinol Metab
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S et al.
(
2021
)
.
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi)
.
J Clin Endocrinol Metab
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A et al.
(
2021
)
.
Genetic Characterization of Short Stature Patients with Overlapping Features of Growth Hormone Insensitivity Syndromes
.
Journal of Clinical Endocrinology and Metabolism
vol.
106
,
(
11
)
E4716
-
E4733
.
Cottrell E, Chatterjee S, Hwa V, Storr HL
(
2021
)
.
A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology
.
Endocrine Abstracts
Zhou J, Boulkroun S, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Argentesi G, Wu X et al.
(
2021
)
.
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
.
Journal of the Endocrine Society
vol.
5
,
(
Suppl 1
)
a65
-
a66
.
Azizan EAB, Zhou J, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al.
(
2021
)
.
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
.
Journal of the Endocrine Society
vol.
5
,
(
Supplement_1
)
a72
-
a72
.
Ueland GÅ, Kellmann R, Davidsen MJ, Viste K, Husebye ES, Almås B, Storr HL, Sagen JV et al.
(
2021
)
.
Bedtime Salivary Cortisol as a Screening Test for Cushing Syndrome in Children
.
Journal of the Endocrine Society
vol.
5
,
(
5
)
Ferrigno R, Hasenmajer V, Caiulo S, Minnetti M, Mazzotta P, Storr HL, Isidori AM, Grossman AB et al.
(
2021
)
.
Paediatric Cushing's disease: Epidemiology, pathogenesis, clinical management and outcome
.
Rev Endocr Metab Disord
Argentesi G, Zhou J, Azizan E, Cabrera CP, Cottrell E, Wu X, Goodchild E, Foo R et al.
(
2021
)
.
Aldosterone-producing adenomas with dual mutations of GNA11/Q and CTNNB1 lead to hypertension in puberty, pregnancy or menopause, and complete cure by adrenalectomy
.
JOURNAL OF HUMAN HYPERTENSION
.
vol.
35
,
5
-
5
.
Polak M, Bang P, Perrot V, Sert C, Storr HL, Woelfle J
(
2021
)
.
Assessment of genetic defects, baseline characteristics and adverse events reported in the Increlex® registry
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
94
,
320
-
321
.
Chatterjee S, Bertola DR, Agwu C, Maharaj A, Williams J, Cottrell E, Shapiro L, Andrews A et al.
(
2021
)
.
Novel <i>LZTR1</i> mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH <i>in</i> <i>vitro</i>
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
94
,
322
-
323
.
Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L et al.
(
2020
)
.
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity
.
European Journal of Endocrinology
vol.
183
,
(
6
)
581
-
595
.
Savage MO, Storr HL, Backeljauw PF
(
2020
)
.
The continuum between GH deficiency and GH insensitivity in children
.
Reviews in Endocrine and Metabolic Disorders
Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT, Storr HL
(
2020
)
.
The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome
.
Journal of Endocrinological Investigation
vol.
44
,
(
6
)
1331
-
1334
.
Zhou J, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Amar L, Argentesi G, Wu X et al.
(
2020
)
.
SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause
.
Journal of the Endocrine Society
vol.
4
,
(
Suppl 1
)
A624
-
A624
.
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA et al.
(
2020
)
.
GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients
.
Endocrine Connections
vol.
-1
,
(
aop
)
211
-
222
.
Marques P, Caimari F, Hernández-Ramírez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT et al.
(
2020
)
.
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
.
The Journal of Clinical Endocrinology & Metabolism
vol.
105
,
(
6
)
Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Bossowski A, Storr HL
(
2019
)
.
A rare but very important cause of growth failure
.
Endocrine Abstracts
Cottrell E, Ishida M, Moore G, Storr HL
(
2019
)
.
Novel genetic defects in a cohort of Silver-Russell Syndrome (SRS) and SRS-like patients
.
Endocrine Abstracts
Chatterjee S, Bertola D, Agwu C, Karantza M, Cottrell E, Shapiro L, Maharaj AV, Williams J et al.
(
2019
)
.
Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway
.
Endocrine Abstracts
Cottrell E, Maharaj A, Ladha T, Chatterjee S, Grandone A, Cirillo G, del GEM, Kostalova L et al.
(
2019
)
.
Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity
.
Endocrine Abstracts
Zhou J, Storr H, Cottrell E, Cabrera C, Argentesi G, Wu X, Goodchild E, Azizan E et al.
(
2019
)
.
Double somatic mutations of CTNNB1 and GNA11 in aldosterone producing adenomas (APAs) presenting in puberty, pregnancy or menopause
.
Endocrine Abstracts
Rubinstein G, Osswald A, Hoster E, Losa M, Elenkova A, Zacharieva S, Machado MC, Hanzu FA et al.
(
2019
)
.
Time to diagnosis in Cushing's syndrome: A meta-analysis based on 5367 patients
.
Journal of Clinical Endocrinology and Metabolism
Storr HL, Shah N, Wojna J, Han K, Roughton M, Pierre CF, Pultar P, Savage MO
(
2019
)
.
A phase 2 study assessing osilodrostat in children and adolescent patients with Cushing's disease - Rationale and methods
.
Endocrine Abstracts
Savage M, Shah N, Wojna J, Han K, Roughton M, Combes FP, Pultar P, Storr H
(
2019
)
.
SUN-454 Rationale and Methods for a Phase II Trial Evaluating Osilodrostat in Pediatric Patients with Cushing's Disease
.
Journal of the Endocrine Society
vol.
3
,
(
Supplement_1
)
sun
-
454
.
Tufton N, Shapiro L, Sahdev A, Kumar AV, Martin L, Drake WM, Akker SA, Storr HL
(
2019
)
.
An analysis of surveillance screening for SDHB-related disease in childhood and adolescence
.
Endocrine Connections
vol.
-1
,
(
aop
)
162
-
172
.
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al.
(
2019
)
.
<i>GHR</i> transcript heterogeneity may explain the phenotypic variability in patients with homozygous <i>GHR</i> pseudoexon (6Ψ) mutation
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
91
,
111
-
111
.
Borysewicz-Sanczyk H, Sawicka B, Cottrell E, Ladha T, Storr H, Bossowski A
(
2019
)
.
Bloom Syndrome in 7-year-old girl diagnosed with short stature
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
91
,
574
-
574
.
Wilkinson ICE, Savage MO, Storr HL
(
2019
)
.
Pediatric Cushing's Disease
.
Encyclopedia of Endocrine Diseases
,
Elsevier
Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia DGE, Metherell LA, Storr HL
(
2018
)
.
A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure
.
Endocrine Abstracts
Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W et al.
(
2018
)
.
Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?
.
Endocrine Abstracts
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al.
(
2018
)
.
Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation
.
Endocrine Abstracts
Wilkinson IC, Riddoch F, Perry LA, Martin L, Grossman AB, Monson JP, Akker S, Savage MO et al.
.
New insights into the low dose dexamethasone suppression test in paediatric Cushing's syndrome (CS)
.
Endocrine Abstracts
.
Cottrell E, Chatterjee S, Moore G, Ishida M, Greening J, Wright N, Bossowski A, Deeb A et al.
(
2018
)
.
Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype
.
Endocrine Abstracts
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO et al.
(
2018
)
.
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action
.
Endocrine Reviews
vol.
40
,
(
2
)
476
-
505
.
Da Costa AR, Qarin S, Bradshaw TY, Watson D, Prasad R, Barnes MR, Metherell LA, Chapple JP et al.
(
2018
)
.
A Novel Stem Cell Model for the Triple a Syndrome
.
HORMONE RESEARCH IN PAEDIATRICS
.
Conference:
57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE)
(
Athens, Greece
)
from:
27/09/2018
to:
29/09/2018
,
vol.
90
,
29
-
29
.
Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia del Giudice E, Metherell LA, Storr HL
(
2018
)
.
A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure
.
HORMONE RESEARCH IN PAEDIATRICS
.
Conference:
European Society for Paediatric Endocrinology
vol.
90
,
637
-
638
.
Cottrell E, Chatterjee S, Moore G, Ishida M, Greening J, Wright N, Bossowski A, Deeb A et al.
(
2018
)
.
Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype
.
HORMONE RESEARCH IN PAEDIATRICS
.
Conference:
European Society for Paediatric Endocrinology
vol.
90
,
105
-
105
.
G R-B, M B, I H, SJ A, DR T, L G, NF T, U S et al.
(
2018
)
.
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells
.
Prete FP, Abdel-Aziz T, Morkane C, Brain C, Kurzawinski TR, Hindmarsh P, Dattani M, Spoudeas H et al.
(
2018
)
.
Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2
.
British Journal of Surgery
vol.
105
,
(
10
)
1319
-
1327
.
Marques P, Barry S, Ronaldson A, Ogilvie A, Storr HL, Goadsby PJ, Powell M, Dang MN et al.
(
2018
)
.
Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family
.
Int J Endocrinol
vol.
2018
,
8581626
-
8581626
.
Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U et al.
(
2018
)
.
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation
.
European Journal of Endocrinology
vol.
178
,
(
5
)
481
-
489
.
Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U et al.
(
2018
)
.
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells
.
Cell Reports
vol.
22
,
(
5
)
1236
-
1249
.
Savage MO, Chatterjee S, Hwa V, Storr HL
(
2018
)
.
Growth Hormone Insensitivity☆
.
Encyclopedia of Endocrine Diseases
,
Elsevier
Wilkinson ICE, Evanson J, Matson M, Miszkiel K, Grieve J, Sabin I, Afshar F, Martin L et al.
(
2017
)
.
New insights into the preoperative localisation of corticotroph adenomas in paediatric Cushing's disease (CD)
.
Endocrine Abstracts
Da CAR, Meimaridou E, Prasad R, Metherell LA, Chapple JP, Storr HL
(
2017
)
.
Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology
.
Endocrine Abstracts
Chatterjee S, Rose S, Mushtaq T, Clayton P, Ten S, Bhangoo A, Kumbattae U, Dias R et al.
(
2017
)
.
Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon (6Ψ)GH receptor mutations
.
Endocrine Abstracts
Wilkinson ICEW, Meso M, Rowse V, Joel E, Morris E, Price L, Storr HL, Drake WM
(
2017
)
.
Radioactive Iodine therapy for the management of hyperthyroidism in children and adolescents
.
Endocrine Abstracts
Yordanova G, Martin L, Afshar F, Sabin I, Alusi G, Plowman NP, Riddoch F, Evanson J et al.
(
2017
)
.
Long-term outcomes of children treated for Cushing's disease: a single center experience
.
Pituitary
vol.
19
,
(
6
)
612
-
624
.
Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL
(
2017
)
.
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity
.
European Journal of Endocrinology
vol.
177
,
(
6
)
485
-
501
.
Katugampola H, King PJ, Chatterjee S, Meso M, Duncan AJ, Achermann JC, Guasti L, Ghataore L et al.
(
2017
)
.
Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit
.
The Journal of Clinical Endocrinology & Metabolism
Marques P, Dang M, Ogilvie A, Storr H, Powell M, Grieve J, Evason J, Kumar A et al.
(
2017
)
.
Long-term follow-up of a family with a large AIP gene deletion: variable phenotypes and challenges in the management
.
Endocrine Abstracts
Wacharasindhu S, Panamonta O, Shapiro L, Metherell LA, Savage MO, Storr HL
(
2017
)
.
Young Thai sisters with growth hormone insensitivity or Laron syndrome
.
Asian Biomedicine
vol.
11
,
(
2
)
167
-
170
.
METHERELL LA, Prasad R, Storr HL, Guasti L, Maharaj A, Meimaridou E, Hadjidemetriou I
(
2017
)
.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
.
Journal of Clinical Investigation
Alkandari HMA, Al Tararwa A, Al Shallal FM, Al Otaibi SA, Storr H
(
2017
)
.
ACTH SECRETING PITUITARY ADENOMA IN A CHILD WITH ROHHAD SYNDROME
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
88
,
512
-
512
.
Chatterjee S, Shapiro L, Rose S, Mushtaq T, Clayton P, Ten S, Bhangoo APS, Kumbattae U et al.
(
2017
)
.
PHENOTYPIC SPECTRUM AND RESPONSES TO RECOMBINANT HUMAN IGF-I (RHIGF-I) THERAPY IN PATIENTS WITH HOMOZYGOUS GH RECEPTOR PSEUDOEXON DEFECTS
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
88
,
290
-
290
.
Monti E, Man E, Torpiano J, Rumsby G, Carmichael P, Storr H, Brain C, Buchanan C et al.
(
2016
)
.
5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition
.
Endocrine Abstracts
Storr H
(
2016
)
.
GH deficiency vs GH insensitivity
.
Endocrine Abstracts
METHERELL LA
(
2016
)
.
Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)
.
Conference:
44th Meeting of the British Society for Paediatric Endocrinology and Diabetes
Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L et al.
(
2016
)
.
Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers
.
Clinical Endocrinology
vol.
86
,
(
2
)
286
-
296
.
METHERELL LA
(
2016
)
.
Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome
.
Conference:
Society for Endocrinology BES 2016
(
Brighton
)
Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar VKA, Chew SL, Drake WM et al.
(
2016
)
.
Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers
.
Endocrine Abstracts
Shapiro L, Elahi S, Riddoch F, Perry LA, Martin L, Akker SA, Monson JP, Drake WM et al.
(
2016
)
.
Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination
.
Horm Res Paediatr
vol.
86
,
(
1
)
21
-
26
.
Cavlan D, Evagora C, Berney D, Storr H, Drake W, King P
(
2016
)
.
Adrenal pigmentation in PPNAD is a result of melanin deposition and associated with upregulation of the melanocortin 1 receptor
.
Endocrine Abstracts
HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al.
(
2016
)
.
IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty
.
EMBO Molecular Medicine
vol.
8
,
(
6
)
626
-
42
.
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al.
(
2016
)
.
Role of IGSF10 mutations in self-limited delayed puberty
.
The Lancet
.
vol.
387
,
Yordanova G, Iotova V, Zheleva E, Bachvarov C, Bocheva Y, Galcheva S, Enchev Y, Ivanov K et al.
(
2016
)
.
Paediatric Cushing Disease: One Patient's Path to Cure
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
86
,
430
-
430
.
Shapiro L, Savage M, Davies K, Metherell L, Storr H
(
2016
)
.
Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI)
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
86
,
47
-
47
.
Shapiro L, Savage M, Metherell L, Storr H
(
2015
)
.
Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing
.
Endocrine Abstracts
Arya VB, Irvine V, Rowlands H, Sykes K, Nicolin G, Drake W, Storr H, Davies JH
(
2015
)
.
Intravenous Etomidate in the management of hypercortisolaemia due to ectopic ACTH producing thymic neuroendocrine tumor
.
Endocrine Abstracts
Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K et al.
(
2015
)
.
Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH)
.
Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Cabrera C et al.
(
2015
)
.
Mutations in IGSF10 cause self-limited delayed puberty
.
Endocrine Abstracts
Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K et al.
(
2015
)
.
Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism
.
Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al.
(
2015
)
.
Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration
.
Endocrine Abstracts
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferraù F, Evanson J et al.
(
2015
)
.
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
.
The Journal of Clinical Endocrinology & Metabolism
vol.
100
,
(
9
)
e1242
-
e1254
.
Storr HL, Savage MO
(
2015
)
.
MANAGEMENT OF ENDOCRINE DISEASE: Paediatric Cushing's disease
.
European Journal of Endocrinology
vol.
173
,
(
1
)
r35
-
r45
.
Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F et al.
(
2015
)
.
STAG3 truncating variant as the cause of primary ovarian insufficiency
.
European Journal of Human Genetics
vol.
24
,
(
1
)
135
-
138
.
Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO, Walker JM
(
2015
)
.
Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency
.
J Endocrinol Invest
vol.
38
,
(
4
)
407
-
412
.
Bang P, Polak M, Woelfle J, Houchard A
(
2015
)
.
Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience
.
Hormone Research in Paediatrics
vol.
83
,
(
5
)
345
-
357
.
Perchard R, Say J, Pitts J, Storr HL, Amin R
(
2014
)
.
Use of Continuous Glucose Monitoring to Identify Glucose Dysregulation in Growth Hormone Insensitivity Syndrome
.
Hormone Research in Paediatrics
vol.
82
,
(
6
)
394
-
398
.
Storr HL, Dunkel L, Kowalczyk J, Savage MO, Metherell LA
(
2014
)
.
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation
.
European Journal of Endocrinology
vol.
172
,
(
2
)
151
-
161
.
Savage MO, Storr HL
(
2014
)
.
Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome
.
Journal of Pediatric Endocrinology and Metabolism
vol.
27
,
(
11-12
)
1029
-
1031
.
Pease-Gevers E, Kowalczyk J, Storr H, Metherell L, Dattani M
(
2014
)
.
A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect
.
Endocrine Abstracts
Katugampola H, Halder W, Ganatra R, Dunkel L, Storr H, Guasti L, King P
(
2014
)
.
Expression of Sonic hedgehog signalling components in the developing human adrenal cortex
.
Endocrine Abstracts
Shapiro L, Elahi S, Bailey J, Martin L, Drake WM, Savage MO, Storr HL
(
2014
)
.
The accuracy of 24-h urinary free cortisol as a screening test in the diagnosis of Cushing's syndrome in children
.
Endocrine Abstracts
Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al.
(
2014
)
.
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD)
.
J Clin Endocrinol Metab
vol.
99
,
(
8
)
E1556
-
E1563
.
Prasad R, Kowalczyk JC, Meimaridou E, Storr HL, Metherell LA
(
2014
)
.
Oxidative stress and adrenocortical insufficiency
.
J Endocrinol
vol.
221
,
(
3
)
R63
-
R73
.
Meimaridou E, Prasad R, Kowalczyk J, Clark A, Storr H, Metherell L
(
2014
)
.
Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex
.
Endocrine Abstracts
Korbonits M, Storr H, Kumar AV, Cozzi R
(
2014
)
.
Gli adenomi ipofisari familiari: chi dovrebbe essere testato per le mutazioni AIP?
.
L'Endocrinologo
vol.
14
,
(
1
)
43
-
43
.
Alexandraki KI, Kaltsas GA, Isidori AM, Storr HL, Afshar F, Sabin I, Akker SA, Chew SL et al.
(
2014
)
.
Remissione a lungo termine e recidiva nella malattia di Cushing: fattori predittivi valutati in un singolo centro
.
L'Endocrinologo
vol.
14
,
(
4
)
181
-
181
.
Howard S, Guasti L, Storr H, Metherell L, Cariboni A, Barnes M, Cabrera C, Wehkalampi K et al.
(
2014
)
.
A novel gene affecting the timing of puberty
.
Endocrine Abstracts
Storr HL, Drake WM, Evanson J, Matson M, Berney DM, Grossman AB, Akker SA, Monson JP et al.
(
2014
)
.
Endonasal endoscopic transsphenoidal pituitary surgery: Early experience and outcome in paediatric Cushing's disease
.
Clinical Endocrinology
vol.
80
,
(
2
)
270
-
276
.
Storr HL, Drake WM, Evanson J, Matson M, Berney DM, Grossman AB, Akker SA, Monson JP et al.
(
2014
)
.
Endonasal endoscopic transsphenoidal pituitary surgery: early experience and outcome in paediatric Cushing's disease
.
Clin Endocrinol (Oxf)
vol.
80
,
(
2
)
270
-
276
.
Prasad R, Metherell LA, Clark AJ, Storr HL
(
2013
)
.
Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis
.
Endocrinology
vol.
154
,
(
9
)
3209
-
3218
.
Meimaridou E, Prasad R, Kowalczyk JC, Clark AJL, Storr HL, Metherell LA
(
2013
)
.
PP43 Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands
.
Free Radical Biology and Medicine
vol.
65
,
Clayton P, Bonnemaire M, Dutailly P, Maisonobe P, Naudin L, Pham E, Zhang Z, Grupe A et al.
(
2013
)
.
Characterizing Short Stature by Insulin-like Growth Factor Axis Status and Genetic Associations: Results From the Prospective, Cross-sectional, Epidemiogenetic EPIGROW Study
.
The Journal of Clinical Endocrinology & Metabolism
vol.
98
,
(
6
)
e1122
-
e1130
.
Alexandraki KI, Kaltsas GA, Isidori AM, Storr HL, Afshar F, Sabin I, Akker SA, Chew SL et al.
(
2013
)
.
Long-term remission and recurrence rates in Cushing's disease: predictive factors in a single-centre study
.
Eur J Endocrinol
vol.
168
,
(
4
)
639
-
648
.
Prasad R, Hughes C, Chan L, Peters C, Nathwani N, Clark A, Storr H, Metherell L
(
2013
)
.
A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans
.
Endocrine Abstracts1
-
1
.
Howard S, Barnes M, Storr H, Wehkalampi K, Metherell L, Dunkel L
(
2013
)
.
Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population
.
Endocrine Abstracts1
-
1
.
Cowell C, Storr H, Savage M
(
2013
)
.
Adrenal disorders
.
Growth Disorders 2E
,
Taylor & Francis
Williams F, Hunter S, Bradley L, Chahal HS, STORR HL, Akker SA, Kumar AV, Orme SM et al.
(
2013
)
.
Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation
.
Journal of Clinical Endocrinology and Metabolism
vol.
99
,
(
4
)
1122
-
1131
.
Guaraldi F, STORR HL, Ghizzoni L, Ghigo E, Savage MO
(
2013
)
.
Paediatric pituitary adenomas: a decade of change
.
Hormone Research in Paediatrics: from developmental endocrinology to clinical research
vol.
81
,
(
3
)
145
-
155
.
Savage MO, Storr HL
(
2012
)
.
Pediatric Cushing's disease: Management Issues
.
Indian J Endocrinol Metab
vol.
16
,
(
Suppl 2
)
S171
-
S175
.
Prasad⁎ R, Clark AJ, Storr HL
(
2012
)
.
Deficiency of ALADIN, the AAAS gene product, renders human adrenal and neuronal cells susceptible to oxidative stress
.
Free Radical Biology and Medicine
vol.
53
,
Korbonits M, Storr H, Kumar AV
(
2012
)
.
Familial pituitary adenomas - who should be tested for AIP mutations?
.
Clin Endocrinol (Oxf)
vol.
77
,
(
3
)
351
-
356
.
Clark AJL, Storr HL, Meimaridou E, Metherell AL
(
2012
)
.
Oxidative Stress as a Disease Mechanism in Inherited Adrenal Failure
.
JOURNAL OF PATHOLOGY
.
vol.
226
,
Clark AJL, STORR HL, Meimaridou E, Metherell LA
(
2012
)
.
Oxidative Stress as a Disease Mechanism in Inherited Adrenal Failure
.
Journal of Pathology
vol.
226
,
Hughes CR, STORR HL, Grossman AB, Savage MO
(
2011
)
.
Diagnosis and treatment of paediatric Cushing’s disease
.
Cushing's Disease
,
Editors:
Swearingen, B, Biller, BMK
,
Springer
Metherell LA, STORR HL, Savage MO
(
2011
)
.
Genetic defects of the human somatotrophic axis
.
Oxford Textbook of Endocrinology and Diabetes
,
Editors:
Wass, JAH, Stewart, PM
,
Oxford University Press
Storr HL, Alexandraki KI, Martin L, Isidori AM, Kaltsas GA, Monson JP, Besser GM, Matson M et al.
(
2011
)
.
Comparisons in the epidemiology, diagnostic features and cure rate by transsphenoidal surgery between paediatric and adult-onset Cushing's disease
.
Eur J Endocrinol
vol.
164
,
(
5
)
667
-
674
.
Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL
(
2011
)
.
Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance
.
J Endocrinol Invest
vol.
34
,
(
4
)
296
-
299
.
Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL
(
2011
)
.
Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance
.
J Endocrinol Invest
vol.
34
,
(
4
)
296
-
299
.
Savage MO, Afshar F, Plowman PN, Dias RP, Grossman AB, STORR HL
(
2011
)
.
Special aspects of Cushing's syndrome: Childhood
.
Cushing's Syndrome: Pathophysiology, Diagnosis and Treatment
,
Editors:
Bronstein, MD, Bronstein, M
,
Humana Press
(
London
),
Chan LF, Vaidya M, Westphal B, Allgrove J, Martin L, Afshar F, Hindmarsh PC, Savage MO et al.
(
2011
)
.
Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease
.
Horm Res Paediatr
vol.
75
,
(
6
)
441
-
446
.
Chan LF, Hughes CR, Allgrove JA, Martin L, Afshar F, Hindmarsh PC, Savage MO, Grossman AB et al.
(
2010
)
.
Use of Intravenous Etomidate in a Child To Control Acute Psychosis Induced by the Hypercortisolemia Secondary to Severe Cushing's Disease
.
ENDOCRINE REVIEWS
.
vol.
31
,
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP et al.
(
2010
)
.
Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease
.
Eur J Endocrinol
vol.
162
,
(
3
)
603
-
609
.
Savage MO, Dias RP, Chan LF, Afshar F, Plowman PN, Matson M, Grossman AB, STORR HL
(
2010
)
.
Diagnosis and Treatment of Cushing’s Disease in Children
.
Pediatric Neuroendocrinology
,
Editors:
Loche, S, Cappa, M, Ghizzoni, L, Maghnie, M et al.
,
Karger Publishers
Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB, Storr HL
(
2010
)
.
Diagnosis and treatment of Cushing's disease in children
.
Endocr Dev
vol.
17
,
134
-
145
.
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM
(
2010
)
.
Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation
.
HORM RES PAEDIAT
vol.
73
,
(
2
)
115
-
119
.
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM
(
2010
)
.
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation
.
Horm Res Paediatr
vol.
73
,
(
2
)
115
-
119
.
Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJL
(
2009
)
.
Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism
.
Mol Endocrinol
vol.
23
,
(
12
)
2086
-
2094
.
Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJL
(
2009
)
.
Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism
.
The Journal of Clinical Endocrinology & Metabolism
vol.
94
,
(
11
)
4626
-
4626
.
Savage MO, Storr HL
(
2009
)
.
Growth and body composition at diagnosis and postcure in children with Cushing's syndrome
.
Pediatric Health
vol.
3
,
(
1
)
13
-
18
.
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP et al.
(
2009
)
.
Prepubertal Cushing's disease: diagnosis, management and therapeutic outcome
.
HORM RES
vol.
72
,
72
-
72
.
Savage MO, Chan LF, Grossman AB, Storr HL
(
2008
)
.
Work-up and management of paediatric Cushing's syndrome
.
Curr Opin Endocrinol Diabetes Obes
vol.
15
,
(
4
)
346
-
351
.
Cooray SN, Chan L, Metherell L, STORR HL, Clark AJ
(
2008
)
.
Adrenocorticotropin resistance syndromes
.
Endocrine developmentD
vol.
13
,
99
-
116
.
Savage MO, Chan LF, Afshar F, Plowman PN, Grossman AB, Storr HL
(
2008
)
.
Advances in the management of paediatric Cushing's disease
.
HORM RES
vol.
69
,
(
6
)
327
-
333
.
Storr H, Alexandraki K, Chan L, Martin L, Monson J, Besser M, Grossman A, Savage M
(
2008
)
.
Comparisons in the epidemiology and diagnostic features between paediatric and adult Cushing's disease
.
HORM RES
vol.
70
,
24
-
25
.
Dias R, Chaplin T, Jones J, Hall C, Ston H, Patton M, Savage M, Clark A
(
2008
)
.
Homozygosity mapping of possible genetic locus in small for gestational age siblings with a previously undescribed severe short stature syndrome
.
HORM RES
vol.
70
,
110
-
110
.
Doufexis M, Storr HL, King PJ, Clark AJL
(
2007
)
.
Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G-protein-coupled receptor and the nucleus
.
FASEB J
vol.
21
,
(
14
)
4095
-
4100
.
Chan LF, Storr HL, Grossman AB, Savage MO
(
2007
)
.
Pediatric Cushing's syndrome: Clinical features, diagnosis, and treatment
.
ARQ BRAS ENDOCRINOL
vol.
51
,
(
8
)
1261
-
1271
.
Storr HL, Savage MO
(
2007
)
.
Adrenal disorders
.
Growth Disorders 2E
,
Taylor & Francis
Savage MO, STORR HL
(
2007
)
.
Linear Growth in Adrenal Disease
.
Growth Disorders 2E
,
Editors:
Kelnar, C, Savage, M, Saenger, P, Cowell, C et al.
,
CRC Press
Dupuis CC, Storr HL, Perry LA, Ho JTF, Ahmed L, Ong KK, Dunger DB, Monson JP et al.
(
2007
)
.
Abnormal puberty in paediatric Cushing's disease: relationship with adrenal androgen, sex hormone binding globulin and gonadotrophin concentrations
.
CLIN ENDOCRINOL
vol.
66
,
(
6
)
838
-
843
.
Storr HL, Chan LF, Grossman AB, Savage MO
(
2007
)
.
Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances
.
TRENDS ENDOCRIN MET
vol.
18
,
(
4
)
167
-
174
.
Chan LF, Storr HL, Plowman PN, Perry LA, Besser GM, Grossman AB, Savage MO
(
2007
)
.
Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy
.
EUR J ENDOCRINOL
vol.
156
,
(
4
)
477
-
482
.
Savage MO, Storr HL, Chan LF, Grossman AB
(
2007
)
.
Diagnosis and treatment of pediatric Cushing's disease
.
Pituitary
vol.
10
,
(
4
)
365
-
371
.
Peters CJ, Ahmed ML, Storr HL, Davies KM, Martin LJ, Allgrove J, Grossman AB, Savage MO
(
2007
)
.
Factors influencing skeletal maturation at diagnosis of paediatric Cushing's disease
.
HORM RES
vol.
68
,
(
5
)
231
-
235
.
Greening JE, Storr HL, McKenzie SA, Davies KM, Martin L, Grossman AB, Savage MO
(
2006
)
.
Linear growth and body mass index in pediatric patients with Cushing's disease or simple obesity
.
J ENDOCRINOL INVEST
vol.
29
,
(
10
)
885
-
887
.
Peters CJ, Storr HL, Grossman AB, Savage MO
(
2006
)
.
The role of corticotrophin-releasing hormone in the diagnosis of Cushing's syndrome
.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
vol.
155
,
S93
-
S98
.
Camacho-Hübner C, Rose S, Preece MA, Sleevi M, Storr HL, Miraki-Moud F, Minuto F, Frystyk J et al.
(
2006
)
.
Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome
.
J Clin Endocrinol Metab
vol.
91
,
(
4
)
1246
-
1253
.
Storr H, Koehler K, Huebner A, Chapple JP, Clark AJL
(
2006
)
.
A candidate interacting protein for the nuclear pore protein ALADIN: a potential pathogenic mechanism for the triple A syndrome
.
HORM RES
vol.
65
,
16
-
16
.
Chan L, Storr H, Plowman PN, Perry L, Monson J, Besser GM, Grossman A, Savage M
(
2006
)
.
Anterior pituitary function in the long-term follow-up of five paediatric Cushing's disease patients treated with pituitary radiotherapy
.
HORM RES
vol.
65
,
186
-
186
.
Peters CJ, Ahmed ML, Storr HL, Davies K, Martin L, Grossman AB, Allgrove J, Savage MO
(
2006
)
.
Factors influencing skeletal maturation at diagnosis of paediatric Cushing's disease
.
HORM RES
vol.
65
,
117
-
118
.
Grossman AB, SAVAGE MO, Storr HL, Dias R, Isidori AM, Perry LA
(
2006
)
.
The Discriminatory Value of the Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome
.
Hormone Research
vol.
65
,
159
-
162
.
Dias R, Storr HL, Perry LA, Isidori AM, Grossman AB, Savage MO
(
2006
)
.
The discriminatory value of the low-dose dexamethasone suppression test in the investigation of paediatric Cushing's syndrome
.
HORM RES
vol.
65
,
(
3
)
159
-
162
.
CLARK AJL, Storr HL, Priestley JV, Michael GJ
(
2005
)
.
Identification of the sites of expression of triple a syndrome mRNA in the rat using hybridisation
.
Neuroscience
vol.
131
,
(
1
)
113
-
123
.
Joshi SM, Hewitt RJD, Storr HL, Rezajooi K, Ellamushi H, Grossman AB, Savage MO, Afshar F
(
2005
)
.
Cushing's disease in children and adolescents: 20 years of experience in a single neurosurgical center
.
NEUROSURGERY
vol.
57
,
(
2
)
281
-
285
.
Storr HL, Afshar F, Matson M, Sabin I, Davies KM, Evanson J, Plowman PN, Besser GM et al.
(
2005
)
.
Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease
.
EUR J ENDOCRINOL
vol.
152
,
(
6
)
825
-
833
.
Davies JH, Storr HL, Davies K, Monson JP, Besser GM, Afshar F, Plowman PN, Grossman AB et al.
(
2005
)
.
Final adult height and body mass index after cure of paediatric Cushing's disease
.
CLIN ENDOCRINOL
vol.
62
,
(
4
)
466
-
472
.
Scommegna S, Greening JP, Storr HL, Davies KM, Shaw NJ, Monson JP, Grossman AB, Savage MO
(
2005
)
.
Bone mineral density at diagnosis and following successful treatment of pediatric Cushing's disease
.
J ENDOCRINOL INVEST
vol.
28
,
(
3
)
231
-
235
.
Storr HL, Clark AJL, Priestley JV, Michael GJ
(
2005
)
.
Identification of the sites of expression of triple a syndrome mRNA in the rat using in situ hybridisation
.
NEUROSCIENCE
vol.
131
,
(
1
)
113
-
123
.
Storr HL, Mitchell H, Swords FM, Main KM, Hindmarsh PC, Betts PR, Shaw NJ, Johnston DI et al.
(
2004
)
.
Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia
.
CLIN ENDOCRINOL
vol.
61
,
(
5
)
553
-
559
.
Storr HL, Isidori AM, Monson JP, Besser GM, Grossman AB, Savage MO
(
2004
)
.
Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis
.
J CLIN ENDOCR METAB
vol.
89
,
(
8
)
3818
-
3820
.
Chan LF, Storr HL, Scheimberg I, Perry LA, Banerjee K, Miraki-Moud F, Camacho-Hubner C, Savage MO
(
2004
)
.
Pseudo-precocious puberty caused by a juvenile granulosa cell tumor secreting androstenedione, inhibin and insulin-like growth factor-I
.
J PEDIATR ENDOCR MET
vol.
17
,
(
4
)
679
-
684
.
Storr HL, Plowman PN, Carroll PV, François I, Krassas GE, Afshar F, Besser GM, Grossman AB et al.
(
2003
)
.
Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment
.
J Clin Endocrinol Metab
vol.
88
,
(
1
)
34
-
37
.
Savage MO, Storr HL, Grossman AB, Krassas GE
(
2003
)
.
Growth and growth hormone secretion in paediatric Cushing's disease
.
Hormones (Athens)
vol.
2
,
(
2
)
93
-
97
.
Storr HL, Barwick TD, Snodgrass GAI, Booy R, Morel Y, Reznek RH, Savage MO
(
2003
)
.
Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11 beta-hydroxylase deficiency
.
HORM RES
vol.
60
,
(
2
)
99
-
102
.
Storr HL, Savage MO, Clark AJL
(
2002
)
.
Advances in the understanding of the genetic basis of adrenal insufficiency
.
J Pediatr Endocrinol Metab
vol.
15 Suppl 5
,
1323
-
1328
.
Holness MJ, STORR HL
(
1993
)
.
Altered interactions between lipogenesis and glycogenesis in liver during fructose feeding
.
Biochemical Society Transactions
vol.
21
,
Article
2
,