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About 893 results

ALLMedicine Pseudohypoparathyroidism Center

Research & Reviews  445 results

Intragenic deletions of GNAS in pseudohypoparathyroidism type 1A identify a new region ...
https://doi.org/10.1210/clinem/dgaa286
The Journal of Clinical Endocrinology and Metabolism; Li D, Bupp C et. al.

May 20th, 2020 - Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by inactivating mutations in the exons of GNAS that encode the alpha-subunit of the stimulatory G protein (Gsα). In some cases abnormal methylation of ex...

Congenital hypoparathyroidism associated with elevated circulating non-functional PTH d...
https://doi.org/10.1210/clinem/dgaa279
The Journal of Clinical Endocrinology and Metabolism; Gild ML, Bullock M et. al.

May 18th, 2020 - Familial hypoparathyroidism has a heterogeneous presentation where patients usually have low parathyroid hormone (PTH) levels due to impaired production or secretion. This contrasts with pseudohypoparathyroidism in which PTH resistance is usually ...

Manifestations of left ventricular dysfunction and arrhythmia in patients with chronic ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216721
BMC Endocrine Disorders; Wang Y, He K et. al.

May 12th, 2020 - Cardiac damage triggered by severe hypocalcemia is well known. However, the role of chronic hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) in cardiac health is still unclear. We investigated the effect of chronic HP and PHP on cardiac ...

Resistance to Vitamin D or Parathyroid Hormone
https://clinicaltrials.gov/ct2/show/NCT00001242

May 4th, 2020 - Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis and treatment and for inclusion in other protocols. These states include hypocalcemia, rickets, osteomalacia, pseu...

A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the...
https://doi.org/10.1007/s12020-020-02304-6
Endocrine Yang Y, Chu X et. al.

Apr 25th, 2020 - Pseudohypoparathyroidism (PHP) is a rare disorder characterized by hypocalcemia, hyperphosphatemia, and resistance to parathyroid hormone (PTH). According to different GNAS mutations, PHP is divided into several subtypes, among which autosomal-dom...

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Clinicaltrials.gov  447 results

Intragenic deletions of GNAS in pseudohypoparathyroidism type 1A identify a new region ...
https://doi.org/10.1210/clinem/dgaa286
The Journal of Clinical Endocrinology and Metabolism; Li D, Bupp C et. al.

May 20th, 2020 - Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by inactivating mutations in the exons of GNAS that encode the alpha-subunit of the stimulatory G protein (Gsα). In some cases abnormal methylation of ex...

Congenital hypoparathyroidism associated with elevated circulating non-functional PTH d...
https://doi.org/10.1210/clinem/dgaa279
The Journal of Clinical Endocrinology and Metabolism; Gild ML, Bullock M et. al.

May 18th, 2020 - Familial hypoparathyroidism has a heterogeneous presentation where patients usually have low parathyroid hormone (PTH) levels due to impaired production or secretion. This contrasts with pseudohypoparathyroidism in which PTH resistance is usually ...

Manifestations of left ventricular dysfunction and arrhythmia in patients with chronic ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216721
BMC Endocrine Disorders; Wang Y, He K et. al.

May 12th, 2020 - Cardiac damage triggered by severe hypocalcemia is well known. However, the role of chronic hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) in cardiac health is still unclear. We investigated the effect of chronic HP and PHP on cardiac ...

Resistance to Vitamin D or Parathyroid Hormone
https://clinicaltrials.gov/ct2/show/NCT00001242

May 4th, 2020 - Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis and treatment and for inclusion in other protocols. These states include hypocalcemia, rickets, osteomalacia, pseu...

A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the...
https://doi.org/10.1007/s12020-020-02304-6
Endocrine Yang Y, Chu X et. al.

Apr 25th, 2020 - Pseudohypoparathyroidism (PHP) is a rare disorder characterized by hypocalcemia, hyperphosphatemia, and resistance to parathyroid hormone (PTH). According to different GNAS mutations, PHP is divided into several subtypes, among which autosomal-dom...

see more →

News  1 results

Early-onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes
https://www.medscape.com/viewarticle/888871

Abstract and Introduction Abstract Context: Early-onset obesity, characteristic for disorders affecting the leptin–melanocortin pathway, is also observed in pseudohypopara-thyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations th...

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