CLINICAL REVIEW 109: Contrasting Paradigms for Hereditary Hyperfunction of Endocrine Cells

Mutation and Cancer: Statistical Study of Retinoblastoma

1971 • 7,335 citations

Lessons from Hereditary Colorectal Cancer

1996 • 4,900 citations

The Complex of Myxomas, Spotty Pigmentation, and Endocrine Overactivity

1985 • 1,071 citations

Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1993 • 1,038 citations

TRANSCRIPTIONAL REGULATION BY CYCLIC AMP

1997 • 967 citations

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

1995 • 812 citations

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

1993 • 747 citations

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

1998 • 663 citations

Molecular Biology of Adenosine Triphosphate-Sensitive Potassium Channels*

1999 • 650 citations

Human Cancer Syndromes: Clues to the Origin and Nature of Cancer

1997 • 612 citations

Menin Interacts with the AP1 Transcription Factor JunD and Represses JunD-Activated Transcription

1999 • 611 citations

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1995 • 596 citations

Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation

1998 • 556 citations

Hereditary cancer: Two hits revisited

1996 • 497 citations

Reduced immunostaining for the extracellular Ca2+-sensing receptor in primary and uremic secondary hyperparathyroidism.

1996 • 487 citations

Clinical studies of multiple endocrine neoplasia type 1 (MEN1)

1996 • 460 citations

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

1996 • 451 citations

Four-Parameter Model of the Sigmoidal Relationship between Parathyroid Hormone Release and Extracellular Calcium Concentration in Normal and Abnormal Parathyroid Tissue*

1983 • 449 citations

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

1996 • 442 citations

Menin, the product of the MEN1 gene, is a nuclear protein

1998 • 426 citations

Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia.

1995 • 411 citations

The Hypocalciuric or Benign Variant of Familial Hypercalcemia: Clinical and Biochemical Features in Fifteen Kindreds

1981 • 390 citations

Multiple Endocrine Neoplasia Type 1: Clinical and Genetic Topics

1998 • 369 citations

Multiple endocrine neoplasia type 1.

1999 • 357 citations

Clonality of Parathyroid Tumors in Familial Multiple Endocrine Neoplasia Type 1

1989 • 326 citations

Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities.

1998 • 324 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

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

1998 • 289 citations

The Rise and Fall of Primary Hyperparathyroidism: A Population-Based Study in Rochester, Minnesota, 1965-1992

1997 • 288 citations

Clinical Features of 52 Neonates with Hyperinsulinism

1999 • 286 citations

Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas

1998 • 285 citations

The pancreatic beta-cell as a fuel sensor: an electrophysiologist's viewpoint

1997 • 273 citations

Multiple Endocrine Neoplasia

1994 • 265 citations

Multiple Neuroendocrine Tumors of the Pancreas in von Hippel-Lindau Disease Patients

1998 • 255 citations

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.

1995 • 247 citations

Identification of a Novel Genetic Locus for Familial Cardiac Myxomas and Carney Complex

1998 • 219 citations

The Extracellular Calcium-Sensing Receptor: Its Role in Health and Disease

1998 • 218 citations

Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells.

1998 • 216 citations

Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders

1998 • 210 citations

Somatic Mutation in Individual Liver Cysts Supports a Two-Hit Model of Cystogenesis in Autosomal Dominant Polycystic Kidney Disease

1998 • 204 citations

Thyroid Gland Abnormalities in Patients with the Syndrome of Spotty Skin Pigmentation, Myxomas, Endocrine Overactivity, and Schwannomas (Carney Complex)

1997 • 201 citations

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

1996 • 185 citations

Field cancerization, clonality, and epithelial stem cells: the spread of mutated clones in epithelial sheets

1999 • 168 citations

Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism.

1993 • 166 citations

Pancreatic lesions and hormonal profile of pancreatic tumors in multiple endocrine neoplasia type I. An immunocytochemical study of nine patients

1986 • 165 citations

Risk and Penetrance of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A Families with Mutations at Codon 634 of the RET Proto-Oncogene

1998 • 163 citations

The Parathyroids: Basic and Clinical Concepts

1994 • 162 citations

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.

1993 • 159 citations

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.

1996 • 158 citations

Parathyroid Mitogenic Activity in Plasma from Patients with Familial Multiple Endocrine Neoplasia Type 1

1986 • 151 citations

Transcription-Dependent Nuclear-Cytoplasmic Trafficking Is Required for the Function of the von Hippel-Lindau Tumor Suppressor Protein

1999 • 149 citations

Calcium-regulated parathyroid hormone release in primary hyperparathyroidism

1979 • 144 citations

Mutations in G proteins and G protein-coupled receptors in endocrine disease.

1996 • 141 citations

Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBHOk), to Chromosome 19q13

1999 • 138 citations

Novel Chromosomal Abnormalities Identified by Comparative Genomic Hybridization in Parathyroid Adenomas1

1998 • 136 citations

Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.

1996 • 135 citations

Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2

1993 • 134 citations

Development of medullary thyroid carcinoma in transgenic mice expressing the RET protooncogene altered by a multiple endocrine neoplasia type 2A mutation

1997 • 134 citations

Allelic deletions on chromosome 11q13 in multiple tumors from individual MEN1 patients.

1996 • 133 citations

Primary hyperparathyroidism in familial multiple endocrine neoplasia type I. Long-term follow-up of serum calcium levels after parathyroidectomy

1985 • 132 citations

Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-->isoleucine) in the extracellular domain of the thyrotropin receptor.

1997 • 130 citations

Familial Isolated Hyperparathyroidism Maps to the Hyperparathyroidism-Jaw Tumor Locus in 1q21-q32 in a Subset of Families¹

1998 • 126 citations

The parathyroid glands in familial hypocalciuric hypercalcemia

1981 • 125 citations

Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes

1985 • 124 citations

Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes.

1992 • 118 citations

Surgery for Asymptomatic Pancreatic Lesion in Multiple Endocrine Neoplasia Type I

1996 • 115 citations

Loss of Calcium Responsiveness in Cultured Bovine Parathyroid Cells Is Associated with Decreased Calcium Receptor Expression

1995 • 110 citations

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

1998 • 108 citations

GermlinePTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

1998 • 107 citations

Neonatal Familial Primary Hyperparathyroidism

1964 • 106 citations

Immunohistochemical Study of 100 Pancreatic Tumors in 28 Patients with Multiple Endocrine Neoplasia, Type I

1996 • 102 citations

Familial Cystic Parathyroid Adenomatosis

1987 • 102 citations

Insulinoma--experience from 1950 to 1995.

1998 • 99 citations

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria

1998 • 94 citations

Hirschsprung’s disease: genetic mutations in mice and men

1997 • 93 citations

Exocytosis in Chromaffin Cells of the Adrenal Medulla

1998 • 88 citations

Neonatal Hyperinsulinemic Hypoglycemia: Heterogeneity of the Syndrome and Keys for Differential Diagnosis1

1998 • 84 citations

Metastatic parathyroid carcinoma in the MEN2A syndrome

1997 • 83 citations

Six-Year Results of Spironolactone and Testolactone Treatment of Familial Male-Limited Precocious Puberty with Addition of Deslorelin after Central Puberty Onset

1999 • 81 citations

Heterogeneous size of the parathyroid glands in familial multiple endocrine neoplasia type 1

1991 • 72 citations

Secretory Dysfunction in Parathyroid Cells from a Neonate with Severe Primary Hyperparathyroidism

1986 • 71 citations

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

1998 • 60 citations

Severe Primary Hyperparathyroidism in a Neonate With Two Hypercalcemic Parents: Management With Parathyroidectomy and Heterotopic Autotransplantation

1986 • 59 citations

Limited Tumor Involvement Found at Multiple Endocrine Neoplasia Type I Pancreatic Exploration: Can It Be Predicted by Preoperative Tumor Localization?

1998 • 53 citations

Molecular Genetic, Biochemical, and Clinical Implications of Gonadotropin Receptor Mutations

1998 • 40 citations

Multiple endocrine neoplasia type 2.

1990 • 39 citations

Latent familial multiple endocrine neoplasia in Tasmania

1985 • 39 citations

Nesidiodysplasia—A histologic entity?

1988 • 29 citations

New Pathophysiological Mechanisms for Hyperthyroidism

1997 • 26 citations

Molecular Characterization of the Glucose-Sensing Mechanism in the Clonal Insulin-Secreting BRIN-BD11 Cell Line

1998 • 25 citations

Neonatal Primary Hyperparathyroidism: Total Parathyroidectomy with Autotransplantation of Cryopreserved Parathyroid Tissue

1986 • 24 citations

Parathyroid glands and the multiple endocrine neoplasia syndromes and familial hypocalciuric hypercalcemia

1997 • 18 citations

Comparative genomic hybridization studies in tumours from a patient with multiple endocrine neoplasia type 1

1998 • 18 citations

GENETIC BASIS OF ENDOCRINE DISEASE Mutations in G Proteins and G Protein-Coupled Receptors in Endocrine Disease

1996 • 15 citations

The cAMP in thyroid: from the TSH receptor to mitogenesis and tumorigenesis.

1997 • 13 citations

von Hippel-Lindau syndrome

1995 • 11 citations

The pathology of medullary thyroid carcinoma and its precursors.

1993 • 10 citations