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Nature Reviews Endocrinology, ISSN 1759-5029, 06/2016, Volume 12, Issue 6, pp. 347 - 356
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2017, Volume 31, Issue 2, pp. 161 - 173
Journal Article
Nature Reviews. Endocrinology, ISSN 1759-5029, 06/2016, Volume 12, Issue 6, p. 347
  Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the... 
Journal Article
Endocrinology, Diabetes & Metabolism Case Reports, ISSN 2052-0573, 01/2019, Volume 1, Issue 1, pp. 1 - 5
Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterised by normal renal function and renal resistance to the action... 
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 03/2013, Volume 34, Issue 3, pp. 411 - 416
ABSTRACT Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end‐organ resistance to parathyroid hormone due to partial... 
GNAS | pseudohypoparathyroidism | type Ia | PPHP | PHP‐Ia | Type Ia | PHP-Ia | Pseudohypoparathyroidism | ALBRIGHT-HEREDITARY-OSTEODYSTROPHY | PARENTAL ORIGIN | STIMULATORY G-PROTEIN | IDENTIFICATION | MOLECULAR ANALYSIS | GENETICS & HEREDITY | RESISTANCE | G(S)ALPHA | PATIENT | GS-ALPHA-GENE | DELETION MUTATION | G proteins | Genetic counseling
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2016, Volume 101, Issue 10, pp. 3657 - 3668
Journal Article
Best Practice & Research Clinical Endocrinology & Metabolism, ISSN 1521-690X, 12/2018, Volume 32, Issue 6, pp. 941 - 954
Journal Article
FRONTIERS IN ENDOCRINOLOGY, ISSN 1664-2392, 08/2019, Volume 10
Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to... 
brachydactyly-mental retardation syndrome | pseudohypoparathyroidism | DIAGNOSIS | GENE | MENTAL-RETARDATION SYNDROME | ENDOCRINOLOGY & METABOLISM | GNAS | 2q37 deletion | Albright hereditary osteodystrophy | Parathyroid hormone | Genetic aspects
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 09/2019, Volume 10
McCune-Albright syndrome (MAS) is a rare congenital disorder characterized by the association of endocrine and nonendocrine anomalies caused by somatic... 
CELLS | precocious puberty | digital PCR | ALPHA-SUBUNIT | bone fibrous dysplasia | QUANTIFICATION | STIMULATORY G-PROTEIN | CHAIN | GENE | McCune-Albright's syndrome | ADENYLYL-CYCLASE | mosaicism | GENETICS & HEREDITY | GNAS | ACTIVATING MUTATIONS | Analysis | Fibrous dysplasia of bone | Diagnosis | McCune–Albright’s syndrome
Journal Article
PEDIATRIC ENDOCRINOLOGY REVIEWS PER, ISSN 1565-4753, 09/2017, Volume 15, Issue Suppl 1, pp. 92 - 97
pseudohypoporathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in... 
Networking | PATERNAL UNIPARENTAL DISOMY | CHROMOSOME 20Q | ALPHA-SUBUNIT GENE | IMPRINTING CONTROL ELEMENT | GNAS EPIGENETIC DEFECTS | HORMONE RESISTANCE | Pseudohypoparathyroidism | ENDOCRINOLOGY & METABOLISM | PROGRESSIVE OSSEOUS HETEROPLASIA | IDENTIFIES PDE4D MUTATIONS | PARATHYROID-HORMONE | ALBRIGHTS HEREDITARY OSTEODYSTROPHY
Journal Article
Case reports in endocrinology, ISSN 2090-6501, 2019, Volume 2019, pp. 8456239 - 5
Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the... 
Ultrasonic imaging | Genetic counseling | Consciousness | Cognitive ability | Vitamin deficiency | Thyroid gland | Mutation | Metabolism | Hypothyroidism | Patients | Age | Endocrinology
Journal Article