×
About 906 results

ALLMedicine™ Pseudohypoparathyroidism Center

Research & Reviews  453 results

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings wi...
https://doi.org/10.1515/jpem-2019-0476
Journal of Pediatric Endocrinology & Metabolism : JPEM; Wang Q, Xian J et. al.

Aug 31st, 2020 - Objectives Objectives Pseudohypoparathyroidism type 1A (PHP1A) is caused by maternal inheritance of GNAS mutations. It is characterized by the resistance to several hormones, primarily the parathyroid hormone (PTH), and the features of Albright's ...

Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism.
https://doi.org/10.1002/mgg3.1423
Molecular Genetics & Genomic Medicine REFERENCES; Zhang C, Zhou X et. al.

Jul 25th, 2020 - Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy share common pathogenic mechanisms but their pathophysiological connections remain unknown. Our study reports an individual with both disorders as a consequence of pseudohypoparathyroidism (PHP)...

Basal ganglia calcification in hypoparathyroidism and pseudohypoparathyroidism: local a...
https://doi.org/10.1007/s40618-020-01355-w
Journal of Endocrinological Investigation; Zavatta G, Clarke BL

Jul 12th, 2020 - Hypoparathyroidism and pseudohypoparathyroidism are rare disorders of mineral metabolism which may be associated with soft tissue calcification in the basal ganglia in the brain, and occasionally the skin and other tissues. The basal ganglia are t...

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese fam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249942
Medicine Tang Y, Zheng F et. al.

Jun 2nd, 2020 - Pseudohypoparathyroidism (PHP) indicates a group of rare disorders characterized by end-organ resistance to various hormones, primarily parathyroid hormone (PTH). One of its most common type is PHP-Ia, which is caused by maternally inherited inact...

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 21st, 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...

see more →

Clinicaltrials.gov  453 results

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings wi...
https://doi.org/10.1515/jpem-2019-0476
Journal of Pediatric Endocrinology & Metabolism : JPEM; Wang Q, Xian J et. al.

Aug 31st, 2020 - Objectives Objectives Pseudohypoparathyroidism type 1A (PHP1A) is caused by maternal inheritance of GNAS mutations. It is characterized by the resistance to several hormones, primarily the parathyroid hormone (PTH), and the features of Albright's ...

Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism.
https://doi.org/10.1002/mgg3.1423
Molecular Genetics & Genomic Medicine REFERENCES; Zhang C, Zhou X et. al.

Jul 25th, 2020 - Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy share common pathogenic mechanisms but their pathophysiological connections remain unknown. Our study reports an individual with both disorders as a consequence of pseudohypoparathyroidism (PHP)...

Basal ganglia calcification in hypoparathyroidism and pseudohypoparathyroidism: local a...
https://doi.org/10.1007/s40618-020-01355-w
Journal of Endocrinological Investigation; Zavatta G, Clarke BL

Jul 12th, 2020 - Hypoparathyroidism and pseudohypoparathyroidism are rare disorders of mineral metabolism which may be associated with soft tissue calcification in the basal ganglia in the brain, and occasionally the skin and other tissues. The basal ganglia are t...

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese fam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249942
Medicine Tang Y, Zheng F et. al.

Jun 2nd, 2020 - Pseudohypoparathyroidism (PHP) indicates a group of rare disorders characterized by end-organ resistance to various hormones, primarily parathyroid hormone (PTH). One of its most common type is PHP-Ia, which is caused by maternally inherited inact...

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 21st, 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...

see more →