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About 949 results

ALLMedicine™ Pseudohypoparathyroidism Center

Research & Reviews  473 results

Molecular definition of pseudohypoparathyroidism variants.
https://doi.org/10.1210/clinem/dgab060
The Journal of Clinical Endocrinology and Metabolism; Jϋppner H

Feb 2nd, 2021 - Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially...

A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented wi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796383
BMC Endocrine Disorders; Lu D, Dong A et. al.

Jan 10th, 2021 - Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could...

An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literat...
https://doi.org/10.20945/2359-3997000000316
Archives of Endocrinology and Metabolism; Ramalho E Silva JD, da Rocha GFMA et. al.

Dec 15th, 2020 - Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus ar...

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classificati...
https://doi.org/10.1530/EJE-20-0625
European Journal of Endocrinology; Pereda A, Elli FM et. al.

Dec 3rd, 2020 - Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptoms includ...

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Clinicaltrials.gov  475 results

Molecular definition of pseudohypoparathyroidism variants.
https://doi.org/10.1210/clinem/dgab060
The Journal of Clinical Endocrinology and Metabolism; Jϋppner H

Feb 2nd, 2021 - Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially...

A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented wi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796383
BMC Endocrine Disorders; Lu D, Dong A et. al.

Jan 10th, 2021 - Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could...

An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literat...
https://doi.org/10.20945/2359-3997000000316
Archives of Endocrinology and Metabolism; Ramalho E Silva JD, da Rocha GFMA et. al.

Dec 15th, 2020 - Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus ar...

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classificati...
https://doi.org/10.1530/EJE-20-0625
European Journal of Endocrinology; Pereda A, Elli FM et. al.

Dec 3rd, 2020 - Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptoms includ...

see more →

News  1 results

A 49-Year-Old Man With Pain at the Site of a Previous Fracture
https://reference.medscape.com/viewarticle/857143_5

Jan 13th, 2016 - On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, ...

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