Lista de obras - Helen L Storr - Dominio Público Uruguay

Abnormal puberty in paediatric Cushing's disease: relationship with adrenal androgen, sex hormone binding globulin and gonadotrophin concentrations

artículo científico publicado en 2007

Adrenocorticotropin resistance syndromes

artículo científico publicado en 2008

Advances in the management of paediatric Cushing's disease

scientific article published on 17 March 2008

Advances in the understanding of the genetic basis of adrenal insufficiency.

artículo científico publicado en 2002

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

artículo científico publicado en 2019

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

scientific article published on 10 February 2011

Cushing's disease in children and adolescents: 20 years of experience in a single neurosurgical center

artículo científico publicado en 2005

Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Diagnosis and treatment of Cushing's disease in children.

artículo científico publicado en 2009

Diagnosis and treatment of pediatric Cushing's disease.

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Factors influencing skeletal maturation at diagnosis of paediatric Cushing's disease

artículo científico publicado en 2007

Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

scientific article published on 01 February 2020

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

artículo científico publicado en 2014

Growth and growth hormone secretion in paediatric Cushing's disease

artículo científico publicado en 2003

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

artículo científico publicado en 2014

Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11 beta-hydroxylase deficiency

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

scientific article published on 01 November 2006

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

MANAGEMENT OF ENDOCRINE DISEASE: Paediatric Cushing's disease

artículo científico

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

artículo científico publicado en 2018

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

scientific article published on 01 April 2019

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

artículo científico publicado en 2016

Oxidative stress and adrenocortical insufficiency

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Paediatric pituitary adenomas: a decade of change

artículo científico publicado en 2014

Pediatric Cushing's disease: Management Issues

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

scientific article published on 28 June 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2018

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

artículo científico publicado en 2004

Pseudo-precocious puberty caused by a juvenile granulosa cell tumour secreting androstenedione, inhibin and insulin-like growth factor-I.

artículo científico publicado en 2004

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

artículo científico publicado en 2020

STAG3 truncating variant as the cause of primary ovarian insufficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2017

The continuum between GH deficiency and GH insensitivity in children

artículo científico publicado en 2020

The discriminatory value of the low-dose dexamethasone suppression test in the investigation of paediatric Cushing's syndrome

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

Time to Diagnosis in Cushing's Syndrome: A Meta-Analysis Based on 5367 Patients

artículo científico publicado en 2020

Use of continuous glucose monitoring to identify glucose dysregulation in growth hormone insensitivity syndrome

artículo científico publicado en 2014

Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Work-up and management of paediatric Cushing's syndrome.

scientific article published on August 2008

Lista de obras de Helen L Storr

Abnormal puberty in paediatric Cushing's disease: relationship with adrenal androgen, sex hormone binding globulin and gonadotrophin concentrations

Adrenocorticotropin resistance syndromes

Advances in the management of paediatric Cushing's disease

Advances in the understanding of the genetic basis of adrenal insufficiency.

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

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

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

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.

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

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

Cushing's disease in children and adolescents: 20 years of experience in a single neurosurgical center

Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.

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

Diagnosis and treatment of Cushing's disease in children.

Diagnosis and treatment of pediatric Cushing's disease.

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

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

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

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

Factors influencing skeletal maturation at diagnosis of paediatric Cushing's disease

Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.

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

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

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

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

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

Growth and growth hormone secretion in paediatric Cushing's disease

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

Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11 beta-hydroxylase deficiency

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

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

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

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

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

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

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

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

MANAGEMENT OF ENDOCRINE DISEASE: Paediatric Cushing's disease

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

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

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

Oxidative stress and adrenocortical insufficiency

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

Paediatric pituitary adenomas: a decade of change

Pediatric Cushing's disease: Management Issues

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

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

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

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

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

Pseudo-precocious puberty caused by a juvenile granulosa cell tumour secreting androstenedione, inhibin and insulin-like growth factor-I.

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

STAG3 truncating variant as the cause of primary ovarian insufficiency

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

The continuum between GH deficiency and GH insensitivity in children

The discriminatory value of the low-dose dexamethasone suppression test in the investigation of paediatric Cushing's syndrome

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

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

Time to Diagnosis in Cushing's Syndrome: A Meta-Analysis Based on 5367 Patients

Use of continuous glucose monitoring to identify glucose dysregulation in growth hormone insensitivity syndrome

Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease.

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

Work-up and management of paediatric Cushing's syndrome.