Disorders of the parathyroid hormone system

Kassem M et al. (1994) Familial isolated primary hyperparathyroidism.

Sunthornthepvarakul T et al. (1999) A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.

Hobbs MR et al. (1999) Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.

None (1976) Familial hyperparathyroidism.

Damiani D et al. () Primary hyperparathyroidism in children: patient report and review of the literature.

Teh BT et al. (1998) Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families.

Yoshimoto K et al. (1998) Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features.

Tanaka C et al. (1998) Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

Stefenelli T et al. (1997) Cardiac abnormalities in patients with primary hyperparathyroidism: implications for follow-up.

Teh BT et al. (1996) 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.

Spiegel AM et al. (1977) Neonatal primary hyperparathyroidism with autosomal dominant inheritance.

Günther T et al. (2000) Genetic ablation of parathyroid glands reveals another source of parathyroid hormone.

Kakinuma A et al. (1994) Familial primary hyperparathyroidism complicated with Wilms' tumor.

Wassif WS et al. (1993) Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer.

Szabó J et al. (1995) Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.

Inoue H et al. (1995) Familial hyperparathyroidism associated with jaw fibroma: case report and literature review.

Sandler LM et al. (1980) Familial hyperparathyroidism.

Rosen IB et al. (1981) Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence?

Law WM et al. (1983) Autosomal recessive inheritance of familial hyperparathyroidism.

Lokich JJ et al. (1978) Carcinoid of the thymus with hereditary hyperparathyroidism.

Thompson NW et al. (1978) Hereditary neonatal hyperparathyroidism.

De Campo C et al. (1988) Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance.

Parkinson DB et al. (1993) Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism.

Scirè G et al. (1994) Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.

Makita Y et al. (1995) Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.

Taitz LS et al. (1966) Congenital absence of the parathyroid and thymus glands in an infant. (3 and 4 pharyngeal pouch syndrome).

Aceto T et al. (1966) Intrauterine hyperparathyroidism: a complication of untreated maternal hypoparathyroidism.

Bronsky D et al. (1968) Familial idiopathic hypoparathyroidism.

None (1970) Familial early hypoparathyroidism associated with hypomagnesaemia.

Barr DG et al. (1971) Chronic hypoparathyroidism in two generations.

Nusynowitz ML et al. (1973) Pseudoidiopathic hypoparathyroidism. Hypoparathyroidism with ineffective parathyroid hormone.

Peters N et al. (1966) Familial hyperparathyroidism.

Schmidtke J et al. (1986) Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism.

Ahn TG et al. (1986) Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

McLeod DR et al. (1989) Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia.

Datta R et al. (2007) Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.

BENSON PF et al. (1964) HEREDITARY HYPOPARATHYROIDISM PRESENTING WITH OEDEMA IN THE NEONATAL PERIOD.

CHAPTAL J et al. () [Familial hypoparathyroidism. Clinical, biological and therapeutic study].

Parkinson DB et al. (1992) A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.

Winer KK et al. (2003) Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium.

Garfield N et al. (2001) Genetics and animal models of hypoparathyroidism.

Pollak MR et al. (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Goldsmith RE et al. (1976) Familial hyperparathyroidism. Description of a large kindred with physiologic observations and a review of the literature.

Gasperi M et al. (2002) GH secretion is impaired in patients with primary hyperparathyroidism.

Hobbs MR et al. (2002) Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2.

Leborgne J et al. (1975) [Familial cancer of the parathyroid glands. Importance of angiography in the diagnosis of regional recurrences. Considerations on 2 cases].

Haven CJ et al. (2000) A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome.

Farnebo F et al. (1999) Alternative genetic pathways in parathyroid tumorigenesis.

Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.

Marx SJ et al. (1977) Family studies in patients with primary parathyroid hyperplasia.

Pearce SH et al. (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Chow CC et al. (2003) Oral alendronate increases bone mineral density in postmenopausal women with primary hyperparathyroidism.

None (1980) Familial hypocalciuric hypercalcemia.

Marx SJ et al. (1982) An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.

Goldbloom RB et al. (1972) Hereditary parathyroid hyperplasia: a surgical emergency of early infancy.

Marx SJ et al. (1985) Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes.

HILLMAN DA et al. (1964) NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM.

Agarwal SK et al. (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

Carpten JD et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Baumber L et al. (2005) Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

Ding C et al. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

Mallette LE et al. (1987) Familial cystic parathyroid adenomatosis.

Corbeel L et al. (1968) [Congenital hyperparathyroidism].

Graber AL et al. (1968) Familial hyperparathyroidism. Medical and surgical considerations.

Mühlethaler JP et al. (1967) [Acute hyperparathyroidism in primary parathyroid hyperplasia].

Kennett S et al. (1971) Jaw lesions in familial hyperparathyroidism.

Jackson CE et al. (1967) The relationship of hereditary hyperparathyroidism to endocrine adenomatosis.

Mallette LE et al. (1974) Parathyroid carcinoma in familial hyperparathyroidism.

Grevsten S et al. (1974) Familial hyperparathyroidism.

Dinnen JS et al. (1977) Parathyroid carcinoma in familial hyperparathyroidism.

Warnakulasuriya S et al. (1985) Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings.

Arnold A et al. (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.

Arnold A et al. (1988) Monoclonality and abnormal parathyroid hormone genes in parathyroid adenomas.

Jackson CE et al. (1990) Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.

None (1948) Primary diffuse parathyroid hyperplasia in an infant of 4 months.

Warner JV et al. (2006) Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14.

Streeten EA et al. (1992) Studies in a kindred with parathyroid carcinoma.

Warner J et al. (2004) Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

CUTLER RE et al. (1964) FAMILIAL HYPERPARATHYROIDISM. A KINDRED INVOLVING ELEVEN CASES, WITH A DISCUSSION OF PRIMARY CHIEF-CELL HYPERPLASIA.

CASSIDY CE et al. (1960) A familial occurrence of hyperparathyroidism caused by multiple parathyroid adenomas.

None (1958) Hereditary hyperparathyroidism associated with recurrent pancreatitis.