H. Storr

发表

Paediatric Cushing’s disease: Epidemiology, pathogenesis, clinical management and outcome

R. Ferrigno, V. Hasenmajer, S. Caiulo, 2021, Reviews in Endocrine and Metabolic Disorders.

Paediatric Pituitary Adenomas: A Decade of Change

F. Guaraldi, L. Ghizzoni, E. Ghigo, 2014, Hormone Research in Paediatrics.

Supporting disabled student nurses from registration to qualification: a review of the United Kingdom (UK) literature.

H. Storr, P. Draper, J. Wray, 2011, Nurse education today.

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family

M. Korbonits, P. Goadsby, H. Storr, 2018, International journal of endocrinology.

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.

M. Korbonits, S. Akker, H. Storr, 2014, The Journal of clinical endocrinology and metabolism.

Bone mineral density at diagnosis and following successful treatment of pediatric Cushing’s disease

H. Storr, A. Grossman, A. Grossman, 2005, Journal of endocrinological investigation.

Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances

H. Storr, A. Grossman, M. Savage, 2007, Trends in Endocrinology & Metabolism.

Time to diagnosis in Cushing's syndrome: A meta-analysis based on 5367 patients.

E. Hoster, C. Raftopoulos, I. Kreitschmann-Andermahr, 2020, The Journal of clinical endocrinology and metabolism.

Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches

H. Storr, M. Savage, 2021, Annals of pediatric endocrinology & metabolism.

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause

Morris J. Brown, D. Berney, W. Drake, 2021, Nature Genetics.

Special Aspects of Cushing’s Syndrome: Childhood

H. Storr, A. Grossman, M. Savage, 2010 .

Work-up and management of paediatric Cushing's syndrome

H. Storr, A. Grossman, M. Savage, 2008, Current opinion in endocrinology, diabetes, and obesity.

Pediatric Cushing's syndrome: clinical features, diagnosis, and treatment.

H. Storr, A. Grossman, M. Savage, 2007, Arquivos brasileiros de endocrinologia e metabologia.

Oxidative stress and adrenocortical insufficiency

L. Metherell, H. Storr, E. Meimaridou, 2014, The Journal of endocrinology.

Diagnosis and treatment of pediatric Cushing’s disease

H. Storr, A. Grossman, M. Savage, 2007, Pituitary.

Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit

L. Dunkel, L. Guasti, H. Storr, 2017, The Journal of clinical endocrinology and metabolism.

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

L. Metherell, H. Storr, M. Savage, 2017, European journal of endocrinology.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

L. Metherell, H. Storr, M. Savage, 2021, The Journal of clinical endocrinology and metabolism.

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

P. Clayton, L. Metherell, H. Storr, 2018, European journal of endocrinology.

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

L. Dunkel, L. Metherell, H. Storr, 2014, European journal of endocrinology.

Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy.

H. Storr, A. Grossman, L. Perry, 2007, European journal of endocrinology.

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

D. Berney, U. Srirangalingam, S. Chew, 2016, Clinical endocrinology.

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

W. Drake, S. Akker, H. Storr, 2016, Hormone Research in Paediatrics.

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

D. Berney, W. Drake, S. Akker, 2014, Clinical endocrinology.

Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease.

H. Storr, A. Grossman, M. Savage, 2005, European journal of endocrinology.

Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis.

H. Storr, A. Isidori, A. Grossman, 2004, The Journal of clinical endocrinology and metabolism.

Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment.

P. Carroll, H. Storr, A. Grossman, 2003, The Journal of clinical endocrinology and metabolism.

Pediatric Cushing Disease

H. Storr, M. Savage, I. Wilkinson, 2019, Encyclopedia of Endocrine Diseases.

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.

M. Preece, A. Rogol, H. Storr, 2006, The Journal of clinical endocrinology and metabolism.

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

U. Srirangalingam, S. Bornstein, W. Drake, 2018, Cell reports.

Use of Intravenous Etomidate to Control Acute Psychosis Induced by the Hypercortisolaemia in Severe Paediatric Cushing’s Disease

P. Hindmarsh, H. Storr, A. Grossman, 2011, Hormone Research in Paediatrics.

Deficiency of ALADIN Impairs Redox Homeostasis in Human Adrenal Cells and Inhibits Steroidogenesis

L. Metherell, H. Storr, A. Clark, 2013, Endocrinology.

The continuum between GH deficiency and GH insensitivity in children

H. Storr, M. Savage, P. Backeljauw, 2020, Reviews in Endocrine and Metabolic Disorders.

Pseudo-precocious Puberty Caused by a Juvenile Granulosa Cell Tumour Secreting Androstenedione, Inhibin and Insulin-like Growth Factor-I

H. Storr, M. Savage, L. Perry, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

Use of Continuous Glucose Monitoring to Identify Glucose Dysregulation in Growth Hormone Insensitivity Syndrome

H. Storr, R. Amin, R. Perchard, 2014, Hormone Research in Paediatrics.

Combined omic analyses reveal novel loss-of-function NLGN3 variants in GnRH deficiency and autism.

Vezzoli, P. Scheiffele, C. Philippe, 2022, medRxiv.

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

I. Temple, L. Metherell, H. Storr, 2015, Journal of Endocrinological Investigation.

Factors Influencing Skeletal Maturation at Diagnosis of Paediatric Cushing’s Disease

H. Storr, A. Grossman, M. Savage, 2007, Hormone Research in Paediatrics.

Linear growth and body mass index in pediatric patients with Cushing’s disease or simple obesity

H. Storr, A. Grossman, M. Savage, 2006, Journal of endocrinological investigation.

An analysis of surveillance screening for SDHB-related disease in childhood and adolescence

W. Drake, S. Akker, H. Storr, 2019, Endocrine connections.

Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study

L. Dunkel, H. Storr, A. Prendergast, 2022, BMC Medicine.

Regional differences in short stature in England between 2006 and 2019: A cross-sectional analysis from the National Child Measurement Programme

R. Walton, L. Dunkel, H. Storr, 2021, PLoS medicine.

Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G‐protein‐coupled receptor and the nucleus

H. Storr, A. Clark, M. Doufexis, 2007, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Familial pituitary adenomas – who should be tested for AIP mutations?

M. Korbonits, H. Storr, Ajith Kumar, 2012, Clinical endocrinology.

Evaluating the sensitivity and specificity of the UK and Dutch growth referral criteria in predicting the diagnosis of pathological short stature

H. Storr, M. Savage, Lee Martin, 2022, BMJ Paediatrics Open.

Hyperplasia of Adrenal Rest Tissue Causing a Retroperitoneal Mass in a Child with 11β-Hydroxylase Deficiency

R. Reznek, H. Storr, M. Savage, 2003, Hormone Research in Paediatrics.

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

L. Metherell, H. Storr, M. Savage, 2014, The Journal of clinical endocrinology and metabolism.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

L. Metherell, L. Guasti, H. Storr, 2017, The Journal of clinical investigation.

Adrenocorticotropin resistance syndromes.

L. Metherell, H. Storr, A. Clark, 2008, Endocrine development.

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.

H. Storr, K. Koehler, A. Huebner, 2009, Molecular endocrinology.

IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

M. Sternberg, M. Barnes, R. Quinton, 2016, EMBO molecular medicine.

GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

L. Metherell, H. Storr, M. Savage, 2020, Endocrine connections.

Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation

K. Main, L. Metherell, H. Storr, 2010, Hormone Research in Paediatrics.

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

L. Dunkel, V. Hwa, L. Metherell, 2020, European journal of endocrinology.

STAG3 truncating variant as the cause of primary ovarian insufficiency

M. Bitner-Glindzicz, H. Williams, F. Lescai, 2015, European Journal of Human Genetics.

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

V. Hwa, A. Dauber, L. Metherell, 2018, Endocrine reviews.

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

L. Metherell, H. Storr, S. Çetinkaya, 2022, Endocrine connections.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity

C. Pignata, V. Hwa, L. Metherell, 2021, The Journal of clinical endocrinology and metabolism.

Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism

H. Storr, K. Koehler, A. Huebner, 2009 .

Identification of the sites of expression of triple a syndrome mRNA in the rat using in situ hybridisation

G. Michael, J. Priestley, H. Storr, 2005, Neuroscience.

Long-term remission and recurrence rates in Cushing's disease: predictive factors in a single-centre study.

S. Chew, W. Drake, S. Akker, 2013, European journal of endocrinology.

Cushing's Disease in Children and Adolescents: 20 Years of Experience in a Single Neurosurgical Center

H. Storr, A. Grossman, M. Savage, 2005, Neurosurgery.

Advances in the Management of Paediatric Cushing’s Disease

H. Storr, A. Grossman, M. Savage, 2008, Hormone Research in Paediatrics.

The Discriminatory Value of the Low-Dose Dexamethasone Suppression Test in the Investigation of Paediatric Cushing’s Syndrome

H. Storr, A. Isidori, A. Grossman, 2006, Hormone Research in Paediatrics.

MANAGEMENT OF ENDOCRINE DISEASE: Paediatric Cushing's disease.

H. Storr, M. Savage, 2015, European journal of endocrinology.

Comparisons in the epidemiology, diagnostic features and cure rate by transsphenoidal surgery between paediatric and adult-onset Cushing's disease.

H. Storr, A. Isidori, G. Kaltsas, 2011, European journal of endocrinology.

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

W. Drake, S. Akker, H. Storr, 2016, Pituitary.

Diagnosis and treatment of Cushing's disease in children.

H. Storr, A. Grossman, M. Savage, 2010, Endocrine development.

Mini Review Advances in the Management of Paediatric Cushing's Disease Diagnostic Aspects of Paediatric Cushing's Disease

H. Storr, A. Grossman, M. Savage, 2022 .

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

H. Storr, M. Savage, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. (3),

L. Metherell, L. Guasti, H. Storr, 2017 .

SGPL 1 mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome 1

L. Metherell, L. Guasti, H. Storr, 2016 .

Growth and body composition at diagnosis and postcure in children with Cushing's syndrome

H. Storr, M. Savage, 2009 .

Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease.

H. Storr, A. Grossman, G. Besser, 2010, European journal of endocrinology.

Pediatric endocrine screening for von Hippel-Lindau disease: Benefits and the challenge of compliance

H. Storr, M. Savage, Lee Martin, 2011 .

Young Thai sisters with growth hormone insensitivity or Laron syndrome

L. Metherell, H. Storr, M. Savage, 2017 .

GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy

H. Storr, M. Savage, 2021, Frontiers in Endocrinology.

ESPE Position Statement for Paediatric Endocrinology Subspecialty

L. Federici, J. Charrow, T. Battelino, 2016, Hormone Research in Paediatrics.

Pediatric Cushing's disease: Management Issues

H. Storr, M. Savage, 2012, Indian journal of endocrinology and metabolism.

The role of corticotrophin-releasing hormone in the diagnosis of Cushing’s syndrome

H. Storr, A. Grossman, M. Savage, 2006 .

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

M. Dattani, L. Dunkel, H. Storr, 2021, European journal of endocrinology.

Bedtime Salivary Cortisol as a Screening Test for Cushing Syndrome in Children

G. Mellgren, H. Storr, P. Juliusson, 2021, Journal of the Endocrine Society.

Does stunting still matter in high-income countries?

L. Dunkel, H. Storr, A. Prendergast, 2023, Annals of human biology.

Pharmacokinetic Studies Of Rhigf-I/Rhigfbp-3 Complex Administered To Patients With Growth Hormone Insensitivity Syndrome

M. Preece, A. Rogol, H. Storr, 2006 .

Inequalities in the assessment of childhood short stature

H. Storr, J. Child, J. Davies, 2023, The British journal of general practice : the journal of the Royal College of General Practitioners.

Final adult height and body mass index after cure of paediatric Cushing's disease

H. Storr, A. Grossman, P. Plowman, 2005, Clinical endocrinology.

Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance.

H. Storr, M. Savage, L. Perry, 2011, Journal of endocrinological investigation.

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

L. Metherell, H. Storr, M. Savage, 2017, European journal of endocrinology.

The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome

H. Storr, M. Savage, A. Bossowski, 2020, Journal of Endocrinological Investigation.

Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia

R. Reznek, P. Hindmarsh, H. Storr, 2004, Clinical endocrinology.

Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.

H. Storr, M. Druce, Anna Bogusławska, 2024, Nature reviews. Endocrinology.

Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.

H. Storr, M. Druce, Anna Bogusławska, 2024, Nature reviews. Endocrinology.

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

W. Drake, S. Akker, H. Storr, 2016, Hormone Research in Paediatrics.