GNAS1 mutational analysis in pseudohypoparathyroidism (Q56459489)

2

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D. T. Bonthron

3

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H. F. Stirling

4

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D. G. D. Barr

5

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C. J. H. Kelnar

6

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R. V. Thakker

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

7

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publication date

October 1998

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published in

Clinical Endocrinology

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volume

49

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issue

4

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page(s)

525-531

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cites work

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Parental origin of transcription from the human GNAS1 gene.

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Imprinting in Albright's hereditary osteodystrophy

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Defect of Receptor–Cyclase Coupling Protein in Pseudohypoparathyroidism

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Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function

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Isolation and characterization of the human Gs alpha gene

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Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy

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Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy

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Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

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Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals

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The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis

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Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

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Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene

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Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11.

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Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations

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Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

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Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

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A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy.

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