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

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1993 • 2,625 citations

Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1

1997 • 2,009 citations

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

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

1995 • 247 citations

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

2000 • 206 citations

Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.

1990 • 202 citations

Multiple endocrine neoplasia type 1: new clinical and basic findings

2001 • 190 citations

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

1996 • 183 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

Mutation Analysis of theMEN1Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism¹

1998 • 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

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

2003 • 156 citations

Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer.

1993 • 140 citations

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

1999 • 138 citations

Familial Hypocalciuric Hypercalcemia: Recognition Among Patients Referred After Unsuccessful Parathyroid Exploration

1980 • 137 citations

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

1995 • 132 citations

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

1998 • 126 citations

Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism

1998 • 125 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

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

2000 • 109 citations

Absence of Germ-Line Mutations of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in Familial Pituitary Adenoma in Contrast to MEN1 in Japanese1

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Familial Cystic Parathyroid Adenomatosis

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Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

1999 • 95 citations

Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer

1993 • 94 citations

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

2000 • 93 citations

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

1998 • 80 citations

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism

2003 • 80 citations

Familial Hyperparathyroidism without Multiple Endocrine Neoplasia

1997 • 79 citations

Parathyroid carcinoma in familial hyperparathyroidism

1974 • 74 citations

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred

2001 • 73 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 • 70 citations

Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome

1999 • 66 citations

Familial Primary Hyperparathyroidism Complicated with Wilms' Tumor.

1994 • 64 citations

Identification of MEN1 gene mutations in families with MEN 1 and related disorders

2000 • 63 citations

Germline Mutations of the MEN1 Gene in Japanese Kindred with Multiple Endocrine Neoplasia Type 1

1997 • 61 citations

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

2000 • 60 citations

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10 Multiple endocrine neoplasia

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Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism

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Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?

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1992 • 51 citations

Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region

2000 • 50 citations

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

1998 • 50 citations

Novel V184EMEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism

1998 • 48 citations

Absence of Germ-Line Mutations of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in Familial Pituitary Adenoma in Contrast to MEN1 in Japanese

1998 • 48 citations

Mapping the Gene Causing Hereditary Primary Hyperparathyroidism in a Portuguese Kindred to Chromosome 1q22-q31

1999 • 46 citations

Familial parathyroid carcinoma in a child

2002 • 40 citations

Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism

2002 • 39 citations

Multiple endocrine neoplasia type 2.

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Angiomyolipoma Characteristic images by ultrasound and computed tomography

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Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: An endocrine syndrome or coincidence?

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Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings

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Multiple endocrine neoplasia type 2A: A 25-year review

1999 • 34 citations

A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism

2000 • 33 citations

Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

1998 • 32 citations

Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands

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

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Studies in a kindred with parathyroid carcinoma

1992 • 25 citations

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Familial hyperparathyroidism associated with jaw fibroma: case report and literature review

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Familial hyperparathyroidism

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Familial Benign Hypocalciuric Hypercalcemia and Neonatal Primary Hyperparathyroidism

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Isolated Familial Hyperparathyroidism with a Novel Mutation of the Men1 Gene

2000 • 14 citations

Tumors of the parathyroid glands. Changes in clinical features and in noninvasive localization studies sensitivity.

2000 • 10 citations

Familial Benign Hypocalciuric Hypercalcemia and Neonatal Primary Hyperparathyroidism

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1992 • 3 citations

Panographic surveys of selected metabolic bone diseases

1968 • 2 citations

Familial Isolated Primary Hyperparathyroidism in a Large Georgian-Jewish Kindred: Genetic Studies

2001 • 2 citations