Mapping the Gene Causing Hereditary Primary Hyperparathyroidism in a Portuguese Kindred to Chromosome 1q22-q31
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چکیده
منابع مشابه
A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.
OBJECTIVE To determine whether familial isolated hyperparathyroidism (FIHP) is a variant of multiple endocrine neoplasia type 1 (MEN1) we analyzed the MEN1 gene in such a kindred. DESIGN AND METHODS The study included the 70-year-old proband and nine relatives. Blood was drawn for biochemical evaluation and germline mutation analysis by direct sequencing of the MEN1 gene amplified by PCR. A h...
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An ectopically placed parathyroid adenoma in the anterior mediastinum is a rare cause of persistent or recurrent primary hyperparathyroidism (PHPT) and is recognized as an important cause of failed primary neck exploration. We encountered 3 such cases amongst 70 surgically treated patients with PHPT (4.3%) over a 20-year period. In 2 cases, the offending adenoma could be removed at first explor...
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15 صفحه اولPrimary Hyperparathyroidism: A Report on 30 Cases of the Disease
Primary hyperparathyroidism is not nowadays considered a rare disease and according to some reports, its incidence is 1/1000. This disorder can be accompanied with severe complications including renal failure and bone illnesses and this can highly elevate the treatment costs and causes social problems and troubles within families. The descriptive strategy of this study was carried out on 30 pa...
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 1999
ISSN: 0884-0431
DOI: 10.1359/jbmr.1999.14.2.230