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Hereditary Hormone Excess: Genes, Molecular Pathways, and Syndromes

Data up to Jan 2025

Published2005
Citations84
References443

Total Citations Per Year

Abstract

References (443)

The Sequence of the Human Genome

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Regulation of the G2/M transition by p53

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Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

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Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

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Extracellular Calcium Sensing and Extracellular Calcium Signaling

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Germ-Line Mutations in Nonsyndromic Pheochromocytoma

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Control of Pancreas and Liver Gene Expression by HNF Transcription Factors

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Heritable formation of pancreatic β-cell tumours in transgenic mice expressing recombinant insulin/simian virus 40 oncogenes

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Membrane Fusion

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RAF/RAS oncogenes and mismatch-repair status

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Protein Kinase Inhibitors: Insights into Drug Design from Structure

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The Genetic Basis of Human Cancer

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Two genetic hits (more or less) to cancer

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Cinacalcet for Secondary Hyperparathyroidism in Patients Receiving Hemodialysis

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Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins

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Genetic aspects of adenomatosis of endocrine glands

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Expression of the c-ret proto-oncogene during mouse embryogenesis

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Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling

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Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma

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Disseminating the Genome: Joining, Resolving, and Separating Sister Chromatids During Mitosis and Meiosis

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Patched acts catalytically to suppress the activity of Smoothened

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Mechanisms of normal and tumor-derived angiogenesis

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Toward Maintaining the Genome: DNA Damage and Replication Checkpoints

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Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein

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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

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The Lutropin/Choriogonadotropin Receptor, A 2002 Perspective

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Molecular Biology of Adenosine Triphosphate-Sensitive Potassium Channels*

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Rheb promotes cell growth as a component of the insulin/TOR signalling network

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Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds withp16INK4Mutations

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Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma

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Menin Associates with a Trithorax Family Histone Methyltransferase Complex and with the Hoxc8 Locus

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TNF receptor subtype signalling: Differences and cellular consequences

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Lindau's disease

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Positional cloning moves from perditional to traditional

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Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells

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The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I

1996 • 596 citations

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

1995 • 596 citations

Somatic and Germ-Line Mutations of theHRPT2Gene in Sporadic Parathyroid Carcinoma

2003 • 574 citations

Common cytochemical and ultrastructural characteristics of cells producing polypeptide hormones (the APUD series) and their relevance to thyroid and ultimobranchial C cells and calcitonin

1968 • 566 citations

Acute mutation of retinoblastoma gene function is sufficient for cell cycle re-entry

2003 • 532 citations

Early Malignant Progression of Hereditary Medullary Thyroid Cancer

2003 • 531 citations

An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma

2001 • 519 citations

Surgery to Cure the Zollinger–Ellison Syndrome

1999 • 507 citations

Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

1999 • 501 citations

Pten and p27KIP1 cooperate in prostate cancer tumor suppression in the mouse

2001 • 495 citations

Mutational Analysis of the Tyrosine Kinome in Colorectal Cancers

2003 • 487 citations

Positional cloning: Let's not call it reverse anymore

1992 • 485 citations

Rheb fills a GAP between TSC and TOR

2003 • 467 citations

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

1994 • 466 citations

Maintenance of Genome Stability in Saccharomyces cerevisiae

2002 • 464 citations

Cinacalcet Hydrochloride Maintains Long-Term Normocalcemia in Patients with Primary Hyperparathyroidism

2005 • 457 citations

Protean PTEN: Form and Function

2002 • 456 citations

The pachytene checkpoint

2000 • 455 citations

A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors

2001 • 453 citations

Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors

2005 • 448 citations

Pituitary Disease in MEN Type 1 (MEN1): Data from the France-Belgium MEN1 Multicenter Study

2002 • 446 citations

Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation

1998 • 445 citations

Gastric Stromal Sarcoma, Pulmonary Chondroma, and Extra-adrenal Paraganglioma (Carney Triad): Natural History, Adrenocortical Component, and Possible Familial Occurrence

1999 • 435 citations

Excess of rare cancers in Werner syndrome (adult progeria).

1996 • 435 citations

Multiple Tumor Suppressor Pathways Negatively Regulate Telomerase

2003 • 433 citations

The GDNF/RET signaling pathway and human diseases

2001 • 432 citations

Src Tyrosine Kinase Is a Novel Direct Effector of G Proteins

2000 • 422 citations

Recombinational DNA repair and human disease

2002 • 421 citations

Endocrine Manifestations of Stimulatory G Protein α-Subunit Mutations and the Role of Genomic Imprinting

2001 • 420 citations

Zollinger-Ellison Syndrome

1973 • 400 citations

Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk

2002 • 394 citations

Ret oncogene activation in human thyroid neoplasms is restricted to the papillary cancer subtype.

1992 • 391 citations

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF

2001 • 374 citations

Epithelial Sodium Channel and the Control of Sodium Balance: Interaction Between Genetic and Environmental Factors

2002 • 373 citations

Structure of Factor-inhibiting Hypoxia-inducible Factor (HIF) Reveals Mechanism of Oxidative Modification of HIF-1α

2003 • 373 citations

Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin

2002 • 373 citations

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease

2001 • 364 citations

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

2003 • 364 citations

Linking Albinism and Immunity: The Secrets of Secretory Lysosomes

2004 • 361 citations

Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice

1997 • 359 citations

The Cyclins and Cyclin-Dependent Kinase Inhibitors in Hormonal Regulation of Proliferation and Differentiation*

1999 • 358 citations

Multiple endocrine neoplasia type 1.

1999 • 357 citations

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

1997 • 356 citations

Molecular genetic advances in tuberous sclerosis

2000 • 354 citations

Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad

2002 • 345 citations

Zollinger-Ellison Syndrome: Clinical Presentation in 261 Patients

2000 • 345 citations

Induction of the neural crest: a multigene process

2002 • 344 citations

Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia

2001 • 341 citations

Regulation of Pancreatic β-Cell Glucokinase

2002 • 339 citations

Multiple roles of the tumor suppressor p53

2002 • 335 citations

Mechanisms leading to uniparental disomy and their clinical consequences

2000 • 332 citations

A new phospholipase-C–calcium signalling pathway mediated by cyclic AMP and a Rap GTPase

2001 • 328 citations

Clonality of Parathyroid Tumors in Familial Multiple Endocrine Neoplasia Type 1

1989 • 326 citations

Identification and cloning of two overexpressed genes, U21B31/PRAD1 and EMS1, within the amplified chromosome 11q13 region in human carcinomas.

1992 • 322 citations

Emerging Roles of Presynaptic Proteins in Ca ++ -Triggered Exocytosis

2002 • 319 citations

Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity

1986 • 307 citations

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

2001 • 305 citations

Multiple Facial Angiofibromas and Collagenomas in Patients With Multiple Endocrine Neoplasia Type 1

1997 • 303 citations

Mutations in CHEK2 Associated with Prostate Cancer Risk

2003 • 296 citations

Pheochromocytomas in von Hippel-Lindau Syndrome and Multiple Endocrine Neoplasia Type 2 Display Distinct Biochemical and Clinical Phenotypes

2001 • 293 citations

Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly

2001 • 292 citations

Functional Collaboration between Different Cyclin-Dependent Kinase Inhibitors Suppresses Tumor Growth with Distinct Tissue Specificity

2000 • 289 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 RET receptor: function in development and dysfunction in congenital malformation

2001 • 286 citations

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

1998 • 285 citations

A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer

2001 • 284 citations

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

2002 • 283 citations

A chromatin remodelling complex that loads cohesin onto human chromosomes

2002 • 282 citations

Altered methylation patterns in cancer cell genomes: Cause or consequence?

2002 • 279 citations

β-Catenin Dysregulation in Thyroid Neoplasms

2001 • 278 citations

The neural ectodermal origin of the peptide-secreting endocrine glands

1970 • 275 citations

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

2000 • 274 citations

Leydig-Cell Tumors Caused by an Activating Mutation of the Gene Encoding the Luteinizing Hormone Receptor

1999 • 274 citations

The Parafibromin Tumor Suppressor Protein Is Part of a Human Paf1 Complex

2005 • 274 citations

RET/PTC Rearrangements in Thyroid Nodules: Studies in Irradiated and Not Irradiated, Malignant and Benign Thyroid Lesions in Children and Adults1

2001 • 270 citations

Multiple Endocrine Neoplasia

1994 • 265 citations

Nesidioblastoma, the islet tumor of the pancreas.

1938 • 261 citations

Alterations of the Tumor Suppressor Genes CDKN2A (p16), p14, CDKN2B (p15), and CDKN2C (p18) in Atypical and Anaplastic Meningiomas

2001 • 260 citations

Heterozygous Rb-1 delta 20/+mice are predisposed to tumors of the pituitary gland with a nearly complete penetrance.

1994 • 260 citations

The meiotic checkpoint monitoring sypapsis eliminates spermatocytes via p53-independent apoptosis

1998 • 259 citations

A mutant PTH/PTHrP type I receptor in enchondromatosis

2002 • 255 citations

Familial Isolated Hyperparathyroidism

2002 • 253 citations

Prolactinoma

2003 • 251 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

Short-Term Inhibition of Parathyroid Hormone Secretion by a Calcium-Receptor Agonist in Patients with Primary Hyperparathyroidism

1998 • 248 citations

MUCOSAL NEUROMA, PHEOCHROMOCYTOMA AND MEDULLARY THYROID CARCINOMA

1975 • 245 citations

Prospective Study of Thymic Carcinoids in Patients with Multiple Endocrine Neoplasia Type 1

2003 • 238 citations

Of Mice and MEN1: Insulinomas in a Conditional Mouse Knockout

2003 • 238 citations

Loss of Parafibromin Immunoreactivity Is a Distinguishing Feature of Parathyroid Carcinoma

2004 • 236 citations

RGS-PX1, a GAP for Gα s and Sorting Nexin in Vesicular Trafficking

2001 • 226 citations

Spatial and temporal expression of the ret proto-oncogene product in embryonic, infant and adult rat tissues.

1995 • 226 citations

Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1.

1992 • 224 citations

Adrenal Medullary Disease in Multiple Endocrine Neoplasia, Type 2: Pheochromocytoma and Its Precursors

1976 • 220 citations

Hirschsprung Disease Is Linked to Defects in Neural Crest Stem Cell Function

2003 • 219 citations

Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex

1998 • 219 citations

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

1997 • 217 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

Thymic Carcinoids in Multiple Endocrine Neoplasia Type 1

1998 • 209 citations

Familial Hypercalcemia and Hypercalciuria Caused by a Novel Mutation in the Cytoplasmic Tail of the Calcium Receptor*

2000 • 206 citations

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

1998 • 204 citations

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

1997 • 203 citations

The aflatoxin B 1 formamidopyrimidine adduct plays a major role in causing the types of mutations observed in human hepatocellular carcinoma

2002 • 202 citations

The von Hippel–Lindau tumor suppressor, hypoxia-inducible factor-1 (HIF-1) degradation, and cancer pathogenesis

2002 • 202 citations

Living with Lethal PIP3 Levels: Viability of Flies Lacking PTEN Restored by a PH Domain Mutation in Akt/PKB

2002 • 202 citations

An Inherited Mutation Outside the Highly Conserved DNA-Binding Domain of the p53 Tumor Suppressor Protein in Children and Adults with Sporadic Adrenocortical Tumors

2001 • 200 citations

Mutations of the NF1 Gene in Children With Juvenile Myelomonocytic Leukemia Without Clinical Evidence of Neurofibromatosis, Type 1

1998 • 199 citations

Mitotic checkpoints: from yeast to cancer

2001 • 196 citations

The Paf1 Complex Has Functions Independent of Actively Transcribing RNA Polymerase II

2004 • 191 citations

National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex

2000 • 190 citations

Targeted point mutations of p53 lead to dominant-negative inhibition of wild-type p53 function

2002 • 190 citations

Structure and regulation of the cAMP-binding domains of Epac2

2002 • 188 citations

Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Reveals Novel Mutations and Clues For Pathophysiology: Augmented PKA Signaling is Associated with Adrenal Tumorigenesis in PPNAD

2002 • 188 citations

Allelic deletions of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients.

1996 • 187 citations

Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21

2001 • 187 citations

Germline Mutations of the APC Gene in Patients with Familial Adenomatous Polyposis-Associated Thyroid Carcinoma: Results from a European Cooperative Study1

2000 • 186 citations

Lectin control of protein folding and sorting in the secretory pathway

2003 • 185 citations

Are Patients with Multiple Endocrine Neoplasia Type I Prone to Premature Death?

2000 • 184 citations

The Molecular Pathogenesis of Hereditary and Sporadic Adrenocortical and Adrenomedullary Tumors

2002 • 182 citations

The pressure rises: update on the genetics of phaeochromocytoma

2002 • 181 citations

Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents

2000 • 179 citations

PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease

2002 • 179 citations

Treatment of Hypercalcemia Secondary to Parathyroid Carcinoma with a Novel Calcimimetic Agent

1998 • 177 citations

Regulation of the retinoblastoma tumor suppressor protein by cyclin/cdks

2001 • 176 citations

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

2004 • 175 citations

Familial Isolated Hyperparathyroidism Is Rarely Caused by Germline Mutation inHRPT2, the Gene for the Hyperparathyroidism-Jaw Tumor Syndrome

2004 • 175 citations

Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression

2004 • 174 citations

Cribriform-morular variant of papillary carcinoma: a distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma?

1999 • 174 citations

Epidermal growth factor receptor expression in neurofibromatosis type 1–related tumors and NF1 animal models

2000 • 174 citations

Minireview: RET: Normal and Abnormal Functions

2004 • 174 citations

Familial Posterior Fossa Brain Tumors of Infancy Secondary to Germline Mutation of the hSNF5 Gene

2000 • 174 citations

The Second Activating Glucokinase Mutation (A456V)

2002 • 168 citations

Pancreas Transplantation: Indications and Consequences

2004 • 167 citations

Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene

2001 • 166 citations

Cell-specific Roles of Glucokinase in Glucose Homeostasis

2001 • 163 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

Telomerase in cancer and aging

2002 • 162 citations

Non-Islet Origin of Pancreatic Islet Cell Tumors

2004 • 161 citations

Treatment of Type II Gastric Carcinoid Tumors with Somatostatin Analogues

2000 • 161 citations

Invasive melanoma in Cdk4-targeted mice

2001 • 161 citations

Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes

2004 • 160 citations

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

1993 • 159 citations

Molecular genetics of familial cutaneous melanoma.

1998 • 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

Familial Adenomatous Polyposis-Associated Thyroid Cancer

1999 • 156 citations

Dysregulation of apoptosis genes in hematopoietic malignancies

2002 • 156 citations

Neurofibromatosis in Children: The Role of the Orthopaedist

1999 • 156 citations

A Syndrome of Hypocalciuric Hypercalcemia Caused by Autoantibodies Directed at the Calcium-Sensing Receptor

2003 • 156 citations

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism‐jaw tumour syndrome

2004 • 155 citations

Histopathology and Molecular Genetics of Multiple Cysts and Microcystic (Serous) Adenomas of the Pancreas in von Hippel-Lindau Patients

2000 • 154 citations

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

2001 • 154 citations

Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors.

1995 • 154 citations

Cdc73p and Paf1p Are Found in a Novel RNA Polymerase II-Containing Complex Distinct from the Srbp-Containing Holoenzyme

1997 • 153 citations

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

1986 • 151 citations

Molecular Pathogenesis of Primary Hyperparathyroidism

2011 • 149 citations

Characterization ofgsp-Mediated Growth Hormone Excess in the Context of McCune-Albright Syndrome

2002 • 148 citations

Genotype-phenotype correlation in von Hippel-Lindau syndrome

2001 • 148 citations

Genetic analysis of the mammalian cell death machinery

2002 • 146 citations

Hyperparathyroidism in hereditary syndromes: special expressions and special managements.

2002 • 146 citations

p27 and Rb are on overlapping pathways suppressing tumorigenesis in mice

1999 • 145 citations

Untersuchungen über den Bau der Labdrüsen

1870 • 145 citations

Pancreatic beta-cell-specific ablation of the multiple endocrine neoplasia type 1 (MEN1) gene causes full penetrance of insulinoma development in mice.

2003 • 144 citations

Germline Mutations of the APC Gene in Patients with Familial Adenomatous Polyposis-Associated Thyroid Carcinoma: Results from a European Cooperative Study

2000 • 143 citations

C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B

2000 • 143 citations

Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event

1993 • 142 citations

Thyroid cancer

2001 • 142 citations

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

1996 • 139 citations

Activating mutations of the TSH receptor in differentiated thyroid carcinomas.

1995 • 139 citations

CONCOMITANCE OF MULTIPLE ADENOMAS OF THE PARATHYROIDS AND PANCREATIC ISLETS WITH TUMOR OF THE PITUITARY

1954 • 138 citations

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

1999 • 138 citations

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

1995 • 137 citations

Cystic Endocrine Tumors of the Pancreas

2001 • 135 citations

Mutations of the DPC4/Smad4 gene in neuroendocrine pancreatic tumors

1999 • 135 citations

Compilation of published comparative genomic hybridization studies

2002 • 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

Acquired Hypocalciuric Hypercalcemia Due to Autoantibodies against the Calcium-Sensing Receptor

2004 • 132 citations

Diffuse and Focal Nesidioblastosis

1989 • 132 citations

Prognostic value of codon 918 (ATG?ACG)RET proto-oncogene mutations in sporadic medullary thyroid carcinoma

2001 • 131 citations

Clinicopathologic Studies of Thymic Carcinoids in Multiple Endocrine Neoplasia Type 1

1997 • 131 citations

Menin Molecular Interactions: Insights into Normal Functions and Tumorigenesis

2005 • 130 citations

Cribriform‐morular variant of papillary thyroid carcinoma: a pathological and molecular genetic study with evidence of frequent somatic mutations in exon 3 of the β‐catenin gene

2002 • 130 citations

Familial carcinoid tumors and subsequent cancers: A nation-wide epidemiologic study from Sweden

2001 • 130 citations

Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter

2003 • 129 citations

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin

2001 • 126 citations

The parathyroid glands in familial hypocalciuric hypercalcemia

1981 • 125 citations

PTEN in Neural Precursor Cells: Regulation of Migration, Apoptosis, and Proliferation

2002 • 124 citations

The complexity of chromatin remodeling and its links to cancer

2002 • 124 citations

Risk and Penetrance of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A Families with Mutations at Codon 634 of theRETProto-Oncogene1

1998 • 124 citations

Meningiomas May Be a Component Tumor of Multiple Endocrine Neoplasia Type 1

2004 • 123 citations

The 32-Kilodalton Subunit of Replication Protein A Interacts with Menin, the Product of the MEN1 Tumor Suppressor Gene

2003 • 122 citations

Mutation of Perinatal Myosin Heavy Chain Associated with a Carney Complex Variant

2004 • 122 citations

The Elevation of Glutamate Content and the Amplification of Insulin Secretion in Glucose-stimulated Pancreatic Islets Are Not Causally Related

2002 • 121 citations

Caretaker tumour suppressor genes that defend genome integrity

2002 • 121 citations

Functionally Impaired TR Mutants Are Present in Thyroid Papillary Cancer

2002 • 119 citations

Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma

1999 • 118 citations

Blind Distal Pancreatectomy for Occult Insulinoma, an Inadvisable Procedure1

2002 • 117 citations

Renal involvement in von Hippel-Lindau disease

1996 • 117 citations

Noninsulinoma pancreatogenous hypoglycemia syndrome: An update in 10 surgically treated patients

2000 • 115 citations

Genetic Testing for Cancer Predisposition

2001 • 114 citations

The McCune-Albright syndrome

1986 • 114 citations

The Role of PET in Localization of Neuroendocrine and Adrenocortical Tumors

2002 • 113 citations

Adrenal lesion in multiple endocrine neoplasia type 1

1995 • 111 citations

Somatic and germline mutations of the TSH receptor and thyroid diseases

2001 • 110 citations

Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood

1999 • 108 citations

Loss of heterozygosity as a predictor to map tumor suppressor genes in cancer: molecular basis of its occurrence

2002 • 108 citations

RET Activation and Clinicopathologic Features in Poorly Differentiated Thyroid Tumors

2002 • 108 citations

Characterization of chromosome 11 translocation breakpoints at the bcl-1 and PRAD1 loci in centrocytic lymphoma.

1992 • 107 citations

Phosphorylation of Cysteine String Protein by Protein Kinase A

2001 • 107 citations

Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia

2003 • 106 citations

Unwinding the molecular basis of the Werner syndrome

2001 • 105 citations

Detection of an Activating Mutation of the Thyrotropin Receptor in a Case of an Autonomously Hyperfunctioning Thyroid Insular Carcinoma1

1997 • 105 citations

A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li – Fraumeni patients carrying a mutation to the TP53 gene

1997 • 104 citations

Haploinsufficiency of p18INK4c Sensitizes Mice to Carcinogen-Induced Tumorigenesis

2003 • 103 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

Activating Gsα mutation in intramuscular myxomas with and without fibrous dysplasia of bone

2000 • 100 citations

Mitogen-Activated Protein Kinase Cascade in Human Normal and Tumoral Parathyroid Cells

2002 • 99 citations

Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation.

1996 • 99 citations

Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas.

2000 • 98 citations

Somatic Mutations in MEN Type 1 Tumors, Consistent with the Knudson “Two-Hit” Hypothesis

2001 • 98 citations

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene

1997 • 98 citations

Cutaneous Tumors in Patients with Multiple Endocrine Neoplasia Type 1 Show Allelic Deletion of the MEN1 Gene

1998 • 96 citations

Molecular analysis of CDKN1C and TP53 in sporadic adrenal tumors

2001 • 95 citations

Familial Isolated Hyperparathyroidism as a Variant of Multiple Endocrine Neoplasia Type 1 in a Large Danish Pedigree1

2000 • 93 citations

Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors.

2000 • 93 citations

Hypoglycemia in Beckwith-Wiedemann syndrome

2000 • 92 citations

K-ras and p53 mutations in the pathogenesis of classical and goblet cell carcinoids of the appendix

1999 • 92 citations

Familial Medullary Thyroid Carcinoma: Clinical Variability and Low Aggressiveness Associated withRETMutation at Codon 804

2002 • 91 citations

Genetic insights into familial cancers – update and recent discoveries

2002 • 90 citations

Pathway-specific tumor suppression

2002 • 88 citations

Familial hyperaldosteronism

2001 • 88 citations

10 years of mouse cancer modifier loci: human relevance.

2003 • 88 citations

Familial nesidioblastosis as the predominant manifestation of multiple endocrine adenomatosis

1972 • 88 citations

Exocytosis in Chromaffin Cells of the Adrenal Medulla

1998 • 88 citations

Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.

1997 • 88 citations

Accumulation of beta-catenin protein and mutations in exon 3 of beta-catenin gene in gastrointestinal carcinoid tumor.

2001 • 86 citations

Pheochromocytoma in von Hippel-Lindau Disease: Distinct Histopathologic Phenotype Compared to Pheochromocytoma in Multiple Endocrine Neoplasia Type 2

2002 • 85 citations

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

1998 • 84 citations

Clonal Origin of Inherited Medullary Thyroid Carcinoma and Pheochromocytoma

1976 • 83 citations

Translational control of the proteome: Relevance to cancer

2001 • 81 citations

Ubiquitin-dependent proteolysis: its role in human diseases and the design of therapeutic strategies

2002 • 81 citations

Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race

1999 • 81 citations

The Focal Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy

2003 • 81 citations

Induction of BAIAP3 by the EWS-WT1 chimeric fusion implicates regulated exocytosis in tumorigenesis

2002 • 80 citations

Of Mice and Men: KATP Channels and Insulin Secretion

2001 • 78 citations

Familial Hyperaldosteronism Type II: Description of a Large Kindred and Exclusion of the Aldosterone Synthase (CYP11B2) Gene1

1998 • 77 citations

Vascular endothelial growth factor overexpression is correlated with von Hippel‐Lindau tumor suppressor gene inactivation in patients with sporadic renal cell carcinoma

2002 • 77 citations

The Proteasome in Cancer Biology and Treatment

2001 • 77 citations

Expression of the PTEN tumour suppressor protein during human development

2000 • 76 citations

Reduced expression of the cyclin-dependent kinase inhibitor gene p57KIP2 in Wilms' tumor.

1996 • 74 citations

Early detection of Knudson's two-hits in preneoplastic renal cells of the Eker rat model by the laser microdissection procedure.

1995 • 74 citations

Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia)

1984 • 74 citations

Gsα and Gi2α mutations in clinically non‐functioning pituitary tumours

1994 • 73 citations

Thyrotropin Receptor Expression in Adrenal, Kidney, and Thymus

1997 • 72 citations

Thyroid Abnormalities in the McCune-Albright Syndrome: Ultrasonography and Hormonal Studies

1990 • 71 citations

Role of the RET proto-oncogene in sporadic hyperparathyroidism and in hyperparathyroidism of multiple endocrine neoplasia type 2.

1996 • 71 citations

Multiple Leiomyomas of the Esophagus, Lung, and Uterus in Multiple Endocrine Neoplasia Type 1

2001 • 71 citations

Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p.

2000 • 71 citations

EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis

2000 • 68 citations

Familial Fibrocystic Pancreatic Atrophy With Endocrine Cell Hyperplasia and Pancreatic Carcinoma

2001 • 68 citations

Resting (Basal) Secretion of Proteins Is Provided by the Minor Regulated and Constitutive-like Pathways and Not Granule Exocytosis in Parotid Acinar Cells

2001 • 66 citations

Secretory Control in Normal and Abnormal Parathyroid Tissue

1987 • 66 citations

Hyperinsulinism and Hyperammonemia Syndrome: Report of Twelve Unrelated Patients

2001 • 65 citations

Expression of Angiogenic Growth Factors in Paragangliomas

2000 • 63 citations

Familial pulmonary carcinoid tumors

2001 • 63 citations

Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling

2002 • 62 citations

Identification of a Novel Point Mutation in the RET Gene (Ala883Thr), Which Is Associated with Medullary Thyroid Carcinoma Phenotype Only in Homozygous Condition

2004 • 62 citations

Distribution of glucokinase, glucose transporter GLUT2, sulfonylurea receptor-1, glucagon-like peptide-1 receptor and neuropeptide Y messenger RNAs in rat brain by quantitative real time RT-PCR

2003 • 62 citations

Familial Hyperaldosteronism Type II: Description of a Large Kindred and Exclusion of the Aldosterone Synthase (CYP11B2) Gene

1998 • 62 citations

Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000

2002 • 62 citations

p15ink4B and p16ink4 gene inactivation in acute lymphocytic leukemia

1995 • 61 citations

Allelotype of head and neck paragangliomas: Allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL

1994 • 61 citations

Results of early thyroidectomy for medullary thyroid carcinoma in children with multiple endocrine neoplasia type 2

1986 • 61 citations

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

1998 • 60 citations

HYPERPARATHYROIDISM IS ASSOCIATED WITH REDUCED EXPRESSION OF A PARATHYROID CALCIUM RECEPTOR MECHANISM DEFINED BY MONOCLONAL ANTIPARATHYROID ANTIBODIES

1988 • 60 citations

Familial Isolated Hyperparathyroidism as a Variant of Multiple Endocrine Neoplasia Type 1 in a Large Danish Pedigree

2000 • 60 citations

Papillary Thyroid Carcinoma in Patients with RET Proto-Oncogene Germline Mutation

2002 • 59 citations

Evidence that Armadillo Transduces Wingless by Mediating Nuclear Export or Cytosolic Activation of Pangolin

2002 • 59 citations

Various Penetrance of Familial Medullary Thyroid Carcinoma in Patients With RET Protooncogene Codon 790/791 Germline Mutations

2002 • 59 citations

Amplification and Overexpression of Mutant RET in Multiple Endocrine Neoplasia Type 2-Associated Medullary Thyroid Carcinoma

2003 • 59 citations

Neurofibromin and NF1 Gene Analysis in Composite Pheochromocytoma and Tumors Associated with von Recklinghausen's Disease

2002 • 59 citations

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome

2001 • 58 citations

Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1

2004 • 57 citations

The Role of Cyclic AMP and Its Effect on Protein Kinase A in the Mitogenic Action of Thyrotropin on the Thyroid Cell

2002 • 57 citations

Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

1995 • 56 citations

Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors.

1999 • 56 citations

Somatic Mutations in Thyroid Nodular Disease

2002 • 56 citations

Surgery for gastroenteropancreatic tumours in multiple endocrine neoplasia type 1: review and personal experience

2004 • 56 citations

Germline RET 634 Mutation Positive MEN 2A-related C-Cell Hyperplasias Have Genetic Features Consistent with Intraepithelial Neoplasia

2001 • 55 citations

The pathophysiology of primary hyperparathyroidism.

2002 • 55 citations

Prophylactic thyroidectomy for medullary thyroid carcinoma in gene carriers of MEN2 syndrome

1998 • 54 citations

The Genetics of Hereditary Nonmedullary Thyroid Carcinoma

2002 • 54 citations

Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes

2001 • 53 citations

Familial paragangliomas: Linkage to chromosome 11q23 and clinical implications

1997 • 52 citations

Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours

1998 • 52 citations

Signaling Pathways in Adrenocortical Cancer

2002 • 51 citations

Diagnostic, surgical and medical aspect of the midgut carcinoids

2002 • 50 citations

Congenital hyperinsulinism: Molecular basis of a heterogeneous disease

1999 • 49 citations

Unregulated Elevation of Glutamate Dehydrogenase Activity Induces Glutamine-Stimulated Insulin Secretion

2002 • 48 citations

Molecular insights into gastrointestinal neuroendocrine tumours: importance and recent advances

2002 • 47 citations

V804M RET mutation and familial medullary thyroid carcinoma: Report of a large family with expression of the disease only in the homozygous gene carriers

2002 • 45 citations

Ganglioneuromas and renal anomalies are induced by activated RETMEN2B in transgenic mice

1999 • 45 citations

Clonal origin of non-medullary thyroid tumours assessed by non-random X-chromosome inactivation

2002 • 45 citations

The Motor Protein Kinesin-1 Links Neurofibromin and Merlin in a Common Cellular Pathway of Neurofibromatosis

2002 • 44 citations

Islet cell precursors are neurones

1982 • 44 citations

Assessment of the quality and frequency of mutations occurrence in PTEN gene in endometrial carcinomas and hyperplasias

2002 • 43 citations

Mutation of RET codon 768 is associated with the FMTC phenotype

1997 • 43 citations

Allelic Loss at the Tuberous Sclerosis (Tsc2) Gene Locus in Spontaneous Uterine Leiomyosarcomas and Pituitary Adenomas in the Eker Rat Model

1995 • 42 citations

Molecular mechanisms of RET activation in human neoplasia

1999 • 41 citations

The relatively high frequency of p53 gene mutations in multiple and malignant phaeochromocytomas

1998 • 41 citations

Familial ACTH-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia clinically affecting only female family members

2002 • 40 citations

Multiple endocrine neoplasia type 2.

1990 • 39 citations

Activating Mutations of the Lutropin Choriogonadotropin Receptor in Precocious Puberty

2002 • 39 citations

Nuclear Localization of Immunoreactive β‐Catenin Is Specific to Familial Adenomatous Polyposis in Papillary Thyroid Carcinoma

2000 • 39 citations

Familial occurrence of carcinoid tumors and association with other malignant neoplasms.

1999 • 38 citations

Premature Centromere Division in Patients with Multiple Endocrine Neoplasia Type 1

1999 • 38 citations

Somatic Mutation and Germline Variants of MINPP1, a Phosphatase Gene Located in Proximity to PTEN on 10q23.3, in Follicular Thyroid Carcinomas1

2001 • 37 citations

Tumor cell "dead or alive": caspase and survivin regulate cell death, cell cycle and cell survival.

2001 • 36 citations

Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma

2002 • 35 citations

The calcium-sensing receptor in human disease

2003 • 34 citations

Thinking beyond the tumor cell: Nf1 haploinsufficiency in the tumor environment

2002 • 34 citations

Mechanisms of basal and kinase-inducible transcription activation by CREB

2002 • 34 citations

Beitrag zur Pathogenese der Akromegalie

1953 • 33 citations

Facial appearance in persistent hyperinsulinemic hypoglycemia

2002 • 33 citations

Study of the Multiple Endocrine Neoplasia Type 1, Growth Hormone-Releasing Hormone Receptor, Gsα, and Gi2α Genes in Isolated Familial Acromegaly1

2001 • 32 citations

Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene

1996 • 31 citations

Differentiation phenotypes of pancreatic islet β- and α-cells are closely related with homeotic genes and a group of differentially expressed genes

2004 • 31 citations

Novel Intronic Mutation of MEN1 Gene Causing Familial Isolated Primary Hyperparathyroidism

2004 • 30 citations

Histology of familial thyroid tumours linked to a gene mapping to chromosome 19p13.2

1999 • 30 citations

Hypercalcemic hyperparathyroidism and hypophosphatemic osteomalacia complicating neurofibromatosis

1990 • 29 citations

Loss of Heterozygosity in Parathyroid Glands of Familial Hypercalcemia with Hypercalciuria and Point Mutation in Calcium Receptor

2002 • 29 citations

Silver stains for identification of neuroendocrine cells. A study of the chemical background

1990 • 28 citations

MEN1 tumor‐suppressor protein localizes to telomeres during meiosis

2002 • 28 citations

Homozygous deletions of p16INK4A/MTS1 and p15INK4B/MTS2 genes in glioma cells and primary glioma tissues

1995 • 27 citations

Sporadic follicular thyroid tumors show loss of a 200-kb region in 11q13 without evidence for mutations in theMEN1 gene

1999 • 27 citations

Genetic Epidemiology of Familial Aggregation of Cancer

1986 • 27 citations

Evidence for the Presence of the Second Allele of the Neurofibromatosis Type 1 Gene in Melanocytes Derived from Café au Lait Macules of NF1 Patients

1997 • 26 citations

Intracellular Targeting of the Type-Iα Regulatory Subunit of cAMP-Dependent Protein Kinase

2002 • 26 citations

Review Article : Neurofibromin in the Brain

2002 • 25 citations

Genetic Screening for MEN1 Mutations in Families Presenting with Familial Primary Hyperparathyroidism

2002 • 25 citations

Can susceptibility to carcinoid tumors be inherited?

1989 • 22 citations

Familial Somatotropinomas

1999 • 22 citations

Protein Kinase A and Chromosomal Stability

2002 • 22 citations

Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy

2001 • 22 citations

Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith-Wiedemann syndrome

2002 • 22 citations

Hypoglycemia after Pancreas Transplantation: Association with Allograft Nesidiodysplasia and Expression of Islet Neogenesis-Associated Peptide

2002 • 21 citations

[Secreting insulinoma and Bourneville's tuberous sclerosis].

1997 • 20 citations

Aggressive Pituitary Tumors in MEN1: Do They Refute the Two-Hit Model of Tumorigenesis?

2002 • 19 citations

The TSH receptor and thyroid diseases

1996 • 19 citations

Genetic and clinical characterization of sporadic cystic parathyroid tumours

2002 • 19 citations

Polycystic Kidney Disease as a Result of Loss of the Tuberous Sclerosis 2 Tumor Suppressor Gene During Development

2003 • 19 citations

Le somatostatinome duodénal. Étude anatomoclinique de 12 cas opérés***Communication présentée à l'Académie nationale de chirurgie aucours de la séance du 15 novembre 2000.

2001 • 18 citations

National Cancer Institute Workshop Report: The Phakomatoses Revisited

2000 • 18 citations

Luteinizing Hormone-Releasing Hormone (LHRH)-Independent Precocious Puberty Unresponsive to LHRH Agonist Therapy in Two Girls Lacking Features of the McCune-Albright Syndrome

1991 • 18 citations

Absence of somatic RET gene mutation in sporadic parathyroid tumors and hyperplasia secondary to uremia, and absence of somatic MEN1 gene mutation in MEN2A-associated hyperplasia

2000 • 18 citations

Loss of Heterozygosity at theRETProtooncogene Locus in a Case of Multiple Endocrine Neoplasia Type 2A1

2001 • 17 citations

Recognition of neurofibromatosis before von Recklinghausen.

1989 • 16 citations

Familial Benign Hypocalciuric Hypercalcemia and Neonatal Primary Hyperparathyroidism

2008 • 14 citations

Flanking regulatory sequences of the locus encoding the murine GDNF receptor, c‐ret, directs lac Z (β‐galactosidase) expression in developing somatosensory system

2001 • 14 citations

Embryonal tumors from transgenic mouse zygotes carrying human activated c-Ha-ras genes.

1989 • 13 citations

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

1999 • 13 citations

Surgical management of pituitary adenomas

2014 • 12 citations

Loss of Heterozygosity at the RET Protooncogene Locus in a Case of Multiple Endocrine Neoplasia Type 2A

2001 • 11 citations

Familial Isolated Pituitary Adenomas

2009 • 10 citations

11q13 Allelotype Analysis in 27 Northern American MEN1 Kindreds Identifies Two Distinct Founder Chromosomes

1998 • 10 citations

Transgenic Mice Harboring Murine Luteinizing Hormone Receptor Promoter/β-Galactosidase Fusion Genes: Different Structural and Hormonal Requirements of Expression in the Testis, Ovary, and Adrenal Gland

2002 • 8 citations

Occurrence of multiple endocrine neoplasia type 1 (MEN-1) gene mutations in patients with zollinger-ellison syndrome (ZES)

1998 • 5 citations

Li–Fraumeni Syndrome

2002 • 5 citations

Clinical and genom-wide linkage studies of a multigénérational family with acromegaly and the exclusion of requiem gene

2002 • 5 citations

Oxygen mediated gene regulation

2002 • 5 citations

Other Skeletal Diseases Resulting from G Protein Defects

2002 • 3 citations

Familial Isolated pituitary adenomas not related to the MEN1 syndrome

2001 • 2 citations

[Illicit hormone receptors in adrenal Cushing's syndrome].

2001 • 1 citations

Activating Gs α Mutation in Intramuscular Myxomas With and Without Fibrous Dysplasia of Bone

2000 • 1 citations

Deleted Work

1955 • 0 citations

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