P. Thornton

发表

Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.

R. Spielman, C. Stanley, A. Sumner, 1991, The Journal of pediatrics.

Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene

J. Rice, M. Permutt, R. Spielman, 1994, Nature Genetics.

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

M. Permutt, C. Stanley, B. Glaser, 1996, Human molecular genetics.

A syndrome of congenital hyperinsulinism and hyperammonemia.

M. Tuchman, C. Stanley, S. Weinzimer, 1997, The Journal of pediatrics.

Hyperinsulinism: molecular aetiology of focal disease

M. Permutt, D. Barton, B. Glaser, 1998, Archives of disease in childhood.

Histopathology of Congenital Hyperinsulinism: Retrospective Study with Genotype Correlations

C. Stanley, A. Ganguly, C. Macmullen, 2003, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism.

C. Alter, C. Stanley, L. Katz, 1993, The Journal of pediatrics.

Clinical and molecular heterogeneity of familial hyperinsulinism.

C. Stanley, B. Glaser, P. Thornton, 1998, The Journal of pediatrics.

Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome.

C. Stanley, R. Ferry, A. Kelly, 2001, The Journal of clinical endocrinology and metabolism.

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.

M. Permutt, C. Stanley, K. Polonsky, 2001, Diabetes.

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

C. Stanley, L. Aguilar-Bryan, A. Ganguly, 2003, Diabetes.

Chapter 43 – Ketone Body Production and Metabolism in the Fetus and Neonate

D. Williamson, P. Thornton, 2004 .

Pediatric endocrine society survey of diabetes practices in the United States: What is the current state?

M. A. Wood, I. Guttmann-Bauman, K. Rubin, 2018, Pediatric diabetes.

Weekly Lonapegsomatropin in Treatment–Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial

D. Karpf, V. Breinholt, P. Hofman, 2021, The Journal of clinical endocrinology and metabolism.

Management of hyperinsulinism in infants.

C. Stanley, P. Thornton, L. Baker, 1991, The Journal of pediatrics.

PRACTICE VARIATION IN THE MANAGEMENT OF GIRLS AND BOYS WITH DELAYED PUBERTY.

Y. Chan, H. Feldman, P. Fechner, 2019, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.

C. Stanley, D. Barton, B. Glaser, 1999, Diabetes.

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

S. Weinzimer, D. Kendall, I. Banerjee, 2022, Orphanet Journal of Rare Diseases.

Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy.

B. Glaser, I. Ariel, S. Kassem, 2000, Diabetes.

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

C. Stanley, A. Ganguly, C. Macmullen, 2005, The Journal of clinical endocrinology and metabolism.

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

M. Permutt, C. Stanley, B. Glaser, 1999, Human mutation.

Re-evaluating "transitional neonatal hypoglycemia": mechanism and implications for management.

C. Stanley, M. Murad, N. White, 2015, The Journal of pediatrics.

Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

H. Christesen, D. A. Weinstein, P. Thornton, 2021, Orphanet Journal of Rare Diseases.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with

C. Stanley, C. Macmullen, S. Shyng, 2008 .

CLINICAL CASE SEMINAR The Diagnosis of Ectopic Focal Hyperinsulinism of Infancy with ( 18 F)-Dopa Positron Emission Tomography

C. Stanley, H. Minn, K. Näntö-Salonen, 2006 .

The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography.

C. Stanley, H. Minn, K. Näntö-Salonen, 2006, The Journal of clinical endocrinology and metabolism.

CHAPTER 3 – Hypoglycemia

P. Thornton, Paul S. Thornton, 2005 .

A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy.

C. Stanley, E. Ruchelli, R. Kaye, 2004, Journal of pediatric surgery.

Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.

C. Stanley, A. Ganguly, C. Macmullen, 2004, The Journal of clinical endocrinology and metabolism.

Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism

P. Thornton, Ana Paola De Cosio, 2019, Pediatric Drugs.

Genetics of neonatal hyperinsulinism

C. Junien, B. Glaser, T. Otonkoski, 2000, Archives of disease in childhood. Fetal and neonatal edition.

A 4-year, Open-label, Multicenter, Randomized Trial of Genotropin Growth Hormone in Patients with Idiopathic Short Stature: Analysis of 4-year Data Comparing Efficacy, Efficiency, and Safety between an Individualized, Target-driven Regimen and Standard Dosing Key Words Cost Effectiveness · Clinical

M. Geffner, L. Levitsky, D. Counts, 2022 .

Arm span as measurement of response to growth hormone (GH) treatment in a group of children with meningomyelocele and GH deficiency.

T. Moshang, M. Satin-Smith, P. Thornton, 1996, The Journal of clinical endocrinology and metabolism.

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

G. Seemann, E. Mayatepek, K. Timothy, 2022, International journal of molecular sciences.

Research initiatives in neonatal hypoglycemia.

C. Stanley, J. Wolfsdorf, Diva D. De León, 2010, The Journal of pediatrics.

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism

C. Stanley, A. Ganguly, C. Macmullen, 2006, Modern Pathology.

Management of Diabetes and Pancreatic Insufficiency After Pancreatectomy

A. Maqbool, P. Thornton, Jefferson N Brownell, 2019, Congenital Hyperinsulinism.

Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia

C. Stanley, P. Thornton, 2019, Congenital Hyperinsulinism.

Familial hyperinsulinism caused by an activating glucokinase mutation.

F M Matschinsky, M. Permutt, C. Stanley, 1998, The New England journal of medicine.

Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism.

C. Stanley, T. Lipman, M. Gerdes, 2005, Journal of pediatric nursing.

Congenital Hyperinsulinism: Intraoperative Biopsy Interpretation Can Direct the Extent of Pancreatectomy

C. Stanley, A. Ganguly, C. Macmullen, 2004, The American journal of surgical pathology.

Insights into Neonatal Hyperinsulinism

C. Alter, A. Kelly, P. Thornton, 2001 .

Practical management of hyperinsulinism in infancy

F. Brunelle, K. Hussain, J. Saudubray, 2000, Archives of disease in childhood. Fetal and neonatal edition.

HYPERINSULINISM Practical management of hyperinsulinism in infancy

F. Brunelle, K. Hussain, J. Saudubray, 2000 .

Recent updates in the management of infants and children with hyperinsulinism

P. Thornton, 2021, Current opinion in pediatrics.

Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism.

C. Stanley, P. Cohen, P. Collett-Solberg, 1997, The Journal of pediatrics.

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

C. Stanley, B. Y. Hsu, C. Greenberg, 2001, The Journal of pediatrics.

A Four-Year, Open-Label, Multi-Center, Randomized, Two-Arm Study of Genotropin® in Patients with Idiopathic Short Stature: Comparison of an Individualized, Target-Driven Treatment Regimen to Standard Dosing of Genotropin® - Analysis of Two-Year Data

M. Geffner, D. Counts, N. Rajicic, 2013, Hormone Research in Paediatrics.

In Vitro and In Vivo Effects of Granulocyte Colony-Stimulating Factor on Neutrophils in Glycogen Storage Disease Type IB: Granulocyte Colony-Stimulating Factor Therapy Corrects the Neutropenia and the Defects in Respiratory Burst Activity and Ca2+ Mobilization

C. Stanley, L. Mccawley, S. Douglas, 1994, Pediatric Research.

in-like growth factor binding protein-1 levels diagnosis of hypoglycemia caused by 'insulinism

C. Stanley, P. Collett-Solberg, P. Thornton, 1997 .

A 14-Year Old Girl with Reversible Hypoglycemic Episodes: The Role of ASVS

C. Galliani, J. Dykes, P. Thornton, 2015, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Severe Transient Neonatal Hyperinsulinism Associated with Hyperlactataemia in Non-asphyxiated Infants

K. Hussain, A. Aynsley-Green, T. Otonkoski, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.

C. Stanley, B. Glaser, H. Landau, 1995, Human molecular genetics.

Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

K. Choate, L. Tosi, E. McCarthy, 2016, Osteoporosis International.

Reconciling Diabetes Management and the Ketogenic Diet in a Child with Pyruvate Dehydrogenase Deficiency

A. Grimberg, P. Thornton, M. Henwood, 2006, Journal of child neurology.

Congenital Hyperinsulinism: An Historical Perspective

C. Stanley, Diva D. De León, P. Thornton, 2022, Hormone Research in Paediatrics.

Genetics of neonatal hyperinsulinism

C. Junien, B. Glaser, T. Otonkoski, 2000, Archives of disease in childhood. Fetal and neonatal edition.

Genetic heterogeneity in familial hyperinsulinism.

M. Permutt, C. Stanley, B. Glaser, 1998, Human molecular genetics.

Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

M. Permutt, C. Stanley, B. Glaser, 1998, The Journal of pediatrics.

Hypoglycemia in the Newborn and Infant

C. Stanley, M. Sperling, P. Thornton, 2021 .

A Nonsense Mutation in the Inward Rectifier Potassium Channel Gene, Kir6.2, Is Associated With Familial Hyperinsulinism

M. Permutt, C. Stanley, B. Glaser, 1997, Diabetes.

Management and appropriate use of diazoxide in infants and children with hyperinsulinism.

T. Stanley, M. Kamboj, Diva D. De León, 2020, The Journal of clinical endocrinology and metabolism.

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

B. Glaser, K. Hussain, A. Aynsley-Green, 2001, Diabetes.

Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children.

C. Stanley, M. Murad, N. White, 2015, The Journal of pediatrics.

Bilateral massive retinal hemorrhages in a 6-month-old infant: a diagnostic dilemma.

M. O'Keefe, P. Thornton, S. Kennedy, 1999, Archives of ophthalmology.

The Incidence and Etiology of Previously Undiagnosed Hypoglycemic Disorders in the Emergency Department.

Nasir Mushtaq, P. Thornton, Lisa Truong, 2018, Pediatric emergency care.

Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case Report

C. Stanley, A. Ganguly, W. Peranteau, 2006, Fetal Diagnosis and Therapy.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Arupa Ganguly, C. Stanley, A. Ganguly, 2008, The Journal of clinical investigation.

Factor V Leiden (Arg506Gln), a Confounding Genetic Risk Factor but not Mandatory for the Occurrence of Venous Thromboembolism in Homozygotes and Obligate Heterozygotes for Cystathionine β-synthase Deficiency

C. O'Neill, E. Naughten, P. Mayne, 1999, Thrombosis and Haemostasis.

Growth in Children after Bone Marrow Transplantation for Acute Myelogenous Leukemia as Compared to Acute Lymphocytic Leukemia

C. Alter, N. Bunin, S. Willi, 1996, Journal of pediatric endocrinology & metabolism : JPEM.

The New Highly Sensitive Adrenocorticotropin Assay Improves Detection of Patients With Partial Adrenocorticotropin Deficiency in A Short Term Metyrapone Test

C. Alter, P. Thornton, T. Moshang Jr.,, 1994, The Journal of pediatric endocrinology.

Ocular findings in glutaric aciduria type 1.

M. O'Keefe, E. Naughten, P. Thornton, 2000, Journal of pediatric ophthalmology and strabismus.

Erratum: Genetic heterogeneity in familial hyperinsulinism (Human Molecular Genetics (1998) 7 (1119-1128))

M. Permutt, C. Stanley, B. Glaser, 1998 .

Switching to Weekly Lonapegsomatropin from Daily Somatropin in Children with Growth Hormone Deficiency: The fliGHt Trial

P. Saenger, L. Fox, S. Chessler, 2022, Hormone Research in Paediatrics.

Random unstimulated pediatric luteinizing hormone levels are not reliable in the assessment of pubertal suppression during histrelin implant therapy

M. Geffner, E. Neely, T. Danoff, 2013, International Journal of Pediatric Endocrinology.

Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism

P. Garg, S. Garg, S. Lokitz, 2020, PloS one.

Rate of Serious Adverse Events Associated with Diazoxide Treatment of Patients with Hyperinsulinism

P. Thornton, T. Hamby, Lisa Truong, 2019, Hormone Research in Paediatrics.

Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism.

C. Stanley, R. Simmons, P. Thornton, 2006, The Journal of pediatrics.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Complete androgen insensitivity syndrome due to X chromosome inversion: A clinical report

N. Spinner, Weizhen Xu, C. Robert, 2003, American journal of medical genetics. Part A.

Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.

C. O'Neill, E. Naughten, P. Mayne, 1999, Thrombosis and haemostasis.

Octreotide use and safety in infants with hyperinsulinism

Diva D. De León, A. McMahon, P. Thornton, 2017, Pharmacoepidemiology and drug safety.

Reply to: Discordance for hyperinsulinemic hypoglycemia in monozygotic twins

C. Stanley, P. Thornton, L. Baker, 1995 .

Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome

Adam S. Barnett, S. Marx, K. Timothy, 2023, bioRxiv.

Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay

E. Naughten, P. Thornton, S. Yap, 1998, Journal of Inherited Metabolic Disease.

Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism

M. Guardia, P. Garg, S. Garg, 2017, PloS one.

What’s in a name? That which we call perinatal stress hyperinsulinism by any other name would smell so bitter

Diva D. De León, P. Thornton, 2021, Journal of Perinatology.

New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia

C. Stanley, Diva D. De León, P. Thornton, 2023, Frontiers in Pediatrics.

Review of outcomes after cessation of gonadotropin-releasing hormone agonist treatment of girls with precocious puberty.

M. Geffner, E. Neely, T. Danoff, 2014, Pediatric endocrinology reviews : PER.

Fatal new onset metabolic encephalopathy in a 14 year old boy

B. Marsh, P. Thornton, D. Phelan, 2000 .

USE OF A SENSITIVE ASSAY TO DOCUMENT ELEVATED INSULIN LEVELS IN CONGENITAL HYPERINSULINISM. † 575

C. Stanley, S. Weinzimer, P. Collett-Solberg, 1996, Pediatric Research.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Safety and Efficacy of Lonapegsomatropin in Children With Growth Hormone Deficiency: enliGHten Trial 2-Year Results

P. Saenger, M. Cappa, P. Hofman, 2022, The Journal of clinical endocrinology and metabolism.

OR17-4 Transcon Growth Hormone In The Treatment Of Pediatric Growth Hormone Deficiency: Results Of The Phase 3 Height Trial

D. Karpf, J. Leff, P. Hofman, 2019, Journal of the Endocrine Society.

Neonates at risk for hypoglycemia: associated neurological outcomes.

P. Thornton, 2016, The Journal of pediatrics.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

C. Stanley, A. Ganguly, S. Shyng, 2008, The Journal of clinical investigation.

A 4-Year, Open-Label, Multicenter, Randomized Trial of Genotropin® Growth Hormone in Patients with Idiopathic Short Stature: Analysis of 4-Year Data Comparing Efficacy, Efficiency, and Safety between an Individualized, Target-Driven Regimen and Standard Dosing

M. Geffner, L. Levitsky, D. Counts, 2015, Hormone Research in Paediatrics.

Irish Paediatric Association

T. G. Parks, J. Murphy, R. Mcloughlin, 1989 .

A Multicenter, Observational Study of Girls with Central Precocious Puberty Treated With Histrelin Subcutaneous Implant

P. Thornton, 2012 .

International Guidelines for the Diagnosis and Management of Hyperinsulinism

C. Stanley, A. Vella, S. Flanagan, 2023, Hormone Research in Paediatrics.