Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

A second-generation linkage map of the human genome

1992 • 1,721 citations

Reconstitution of I _KATP : An Inward Rectifier Subunit Plus the Sulfonylurea Receptor

1995 • 1,703 citations

Cloning of the β Cell High-Affinity Sulfonylurea Receptor: a Regulator of Insulin Secretion

1995 • 1,310 citations

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene.

1995 • 956 citations

Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy

1995 • 812 citations

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

1998 • 663 citations

Tumour-suppressor activity of H19 RNA

1993 • 638 citations

Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation

1998 • 556 citations

Genetic Analysis of Italian Patients with Congenital Hyperinsulinism of Infancy

2013 • 540 citations

Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour

1994 • 466 citations

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

1996 • 442 citations

Parental genomic imprinting of the human IGF2 gene

1993 • 422 citations

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1995 • 410 citations

Monoallelic expression of the human H19 gene

1992 • 409 citations

Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.

1996 • 302 citations

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

1997 • 301 citations

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.

1997 • 251 citations

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

1996 • 250 citations

Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

1997 • 237 citations

Loss of functional KATP channels in pancreatic β–cells causes persistent hyperinsulinemic hypoglycemia of infancy

1996 • 225 citations

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

1997 • 222 citations

HYPERINSULINISM IN INFANTS AND CHILDREN

1997 • 207 citations

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

1998 • 161 citations

Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy.

1980 • 144 citations

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors

1996 • 139 citations

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

1995 • 131 citations

Persistent Neonatal Hyperinsulinism

1988 • 125 citations

Genetic Heterogeneity in Familial Hyperinsulinism

1998 • 122 citations

Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus

1990 • 121 citations

Hyperinsulinism in children: Diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases

1995 • 114 citations

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

1994 • 113 citations

Partial or near‐total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role

1998 • 110 citations

Beckwith-wiedemann syndrome, tumourigenesis and imprinting

1992 • 105 citations

Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?

1997 • 104 citations

Neonatal and Infantile Hypoglycemia Due to Insulin Excess

1977 • 89 citations

Imprinted genes and regulation of gene expression by epigenetic inheritance

1996 • 88 citations

Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

1995 • 81 citations

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

1997 • 80 citations

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

1996 • 76 citations

Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases.

1998 • 60 citations

Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas

1996 • 49 citations

Beckwith-Wiedemann Syndrome, Tumorigenesis and Imprinting

1992 • 34 citations

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

1995 • 34 citations

Current Status of Pancreatectomy for Persistent Idiopathic Neonatal Hypoglycemia Due to Islet Cell Dysplasia

1991 • 25 citations

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

1995 • 3 citations

Deleted Work

1955 • 0 citations