Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q24675796

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Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14 Surgery for primary hyperparathyroidism Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.Clinical and molecular genetics of parathyroid neoplasms The calcium-sensing receptor and related diseases.Hyperparathyroid genes: sequences reveal answers and questions.A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.The calcium-sensing receptor in normal physiology and pathophysiology: a review.Genetic causes of hypercalciuric nephrolithiasis.Parathyroid hormone-dependent hypercalcemia.Pharmacotherapy and interventional treatments for secondary hyperparathyroidism: current therapy and future challenges.Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes.Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.Update on parathyroid carcinoma.PTH and Vitamin D.Genetics of Hyperparathyroidism, Including Parathyroid Cancer.Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.Heritable forms of primary hyperparathyroidism: a current perspective.Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

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

http://www.wikidata.org/entity/Q24675796

description

2004 nî lūn-bûn

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2004 թուականի Մարտին հրատարակուած գիտական յօդուած

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Genetic testing in familial is ...... results and their implications

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Genetic testing in familial is ...... results and their implications

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Genetic testing in familial is ...... results and their implications

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Genetic testing in familial is ...... results and their implications

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Genetic testing in familial is ...... results and their implications

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P2860

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Non-coding RNAs: the architects of eukaryotic complexity

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

A simple salting out procedure for extracting DNA from human nucleated cells

Positional cloning of the gene for multiple endocrine neoplasia-type 1

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

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

Guidelines for diagnosis and therapy of MEN type 1 and type 2.

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

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