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About 174 results

ALLMedicine™ Albright's Hereditary Osteodystrophy Center

Research & Reviews  87 results

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...

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
https://doi.org/10.1515/jpem-2020-0192
Journal of Pediatric Endocrinology & Metabolism : JPEM; Vlachopapadopoulou EA, Anagnostou E et. al.

Oct 7th, 2020 - Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and ele...

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 ...

A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel...
https://doi.org/10.1007/s12020-020-02195-7
Endocrine Brancatella A, Mantovani G et. al.

Jan 15th, 2020 - Pseudohypoparathyroidism (PHP), characterized by multihormone resistance and Albright's hereditary osteodystrophy (AHO), is caused by GNAS mutations. Whole or partial gene deletions are rare. All disorders due to inactivating mutations of the GNAS...

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
https://doi.org/10.1002/jbmr.3948
Journal of Bone and Mineral Research : the Official Journ... Snanoudj S, Molin A et. al.

Dec 30th, 2019 - Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by loss-of-function mutations in the imprinted Guanine Nucleotide Binding Protein, Alpha Stimulating Activity (GNAS...

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Clinicaltrials.gov  87 results

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...

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
https://doi.org/10.1515/jpem-2020-0192
Journal of Pediatric Endocrinology & Metabolism : JPEM; Vlachopapadopoulou EA, Anagnostou E et. al.

Oct 7th, 2020 - Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and ele...

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 ...

A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel...
https://doi.org/10.1007/s12020-020-02195-7
Endocrine Brancatella A, Mantovani G et. al.

Jan 15th, 2020 - Pseudohypoparathyroidism (PHP), characterized by multihormone resistance and Albright's hereditary osteodystrophy (AHO), is caused by GNAS mutations. Whole or partial gene deletions are rare. All disorders due to inactivating mutations of the GNAS...

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
https://doi.org/10.1002/jbmr.3948
Journal of Bone and Mineral Research : the Official Journ... Snanoudj S, Molin A et. al.

Dec 30th, 2019 - Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by loss-of-function mutations in the imprinted Guanine Nucleotide Binding Protein, Alpha Stimulating Activity (GNAS...

see more →