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

Diabetes (New York, N.Y.), 2000-08, Vol.49 (8), p.1325-1333

2000

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Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations

Diabetes (New York, N.Y.), 2001-02, Vol.50 (2), p.322-328

2001

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Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation

The New England journal of medicine, 1998-01, Vol.338 (4), p.226-230

1998

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

Osteoporosis international, 2016-12, Vol.27 (12), p.3615-3626

2016

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Genetic Heterogeneity in Familial Hyperinsulinism

Human molecular genetics, 1998-07, Vol.7 (7), p.1119-1128

1998

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

Diabetes (New York, N.Y.), 2001-12, Vol.50 (12), p.2763-2769

2001

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

Diabetes (New York, N.Y.), 1999-08, Vol.48 (8), p.1652-1657

1999

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A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism

Diabetes (New York, N.Y.), 1997-11, Vol.46 (11), p.1743-1748

1997

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

The Journal of pediatrics, 1998, Vol.132 (1), p.9-14

1998

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A syndrome of congenital hyperinsulinism and hyperammonemia

The Journal of pediatrics, 1997-04, Vol.130 (4), p.661-664

1997

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Hyperinsulinism: molecular aetiology of focal disease

Archives of disease in childhood, 1998-11, Vol.79 (5), p.445-447

1998

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

The Journal of pediatrics, 1997-08, Vol.131 (2), p.193-199

1997

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A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism

Diabetes (New York, N.Y.), 1997-11, Vol.46 (11), p.1743-1748

1997

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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

Hormone research in paediatrics, 2013-01, Vol.80 (4), p.242-251

2013

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Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants

Journal of Pediatric Endocrinology and Metabolism, 2004-02, Vol.17 (2), p.203

2004

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Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation

The journal of clinical endocrinology and metabolism, 2004-01, Vol.89 (1), p.288-296

2004

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

Nature genetics, 1994-06, Vol.7 (2), p.185-188

1994

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p57KIP2 Expression in Normal Islet Cells and in Hyperinsulinism of Infancy

Diabetes (New York, N.Y.), 2001-12, Vol.50 (12), p.2763-2769

2001

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

The Journal of pediatrics, 2001-03, Vol.138 (3), p.383-389

2001

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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

Human molecular genetics, 1995-05, Vol.4 (5), p.879-886

1995

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Mutations in the Sulfonylurea Receptor Gene Are Associated with Familial Hyperinsulinism in Ashkenazi Jews

Human molecular genetics, 1996-11, Vol.5 (11), p.1813-1822

1996

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

The Journal of pediatrics, 1991-11, Vol.119 (5), p.721-724

1991

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

The journal of clinical endocrinology and metabolism, 2001-08, Vol.86 (8), p.3724-3728

2001

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Astigmatic keratotomy: A review of basic concepts with case reports

Journal of cataract and refractive surgery, 1990-07, Vol.16 (4), p.430-435

Thornton, Spencer P.

1990

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Clinical and molecular heterogeneity of familial hyperinsulinism

The Journal of pediatrics, 1998-12, Vol.133 (6), p.801-803

1998

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

Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations

Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation

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

Genetic Heterogeneity in Familial Hyperinsulinism

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

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

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism

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

A syndrome of congenital hyperinsulinism and hyperammonemia

Hyperinsulinism: molecular aetiology of focal disease

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

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism

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

Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants

Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation

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

p57KIP2 Expression in Normal Islet Cells and in Hyperinsulinism of Infancy

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

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

Mutations in the Sulfonylurea Receptor Gene Are Associated with Familial Hyperinsulinism in Ashkenazi Jews

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

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

Astigmatic keratotomy: A review of basic concepts with case reports

Clinical and molecular heterogeneity of familial hyperinsulinism

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