• (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B
• <em>GNAS</em> locus: bone related diseases and mouse models
• A Case of Genetically Confirmed Pseudohypoparathyroidism Type 1a Presented with Multifocal Plate-Like Osteoma Cutis and Review of Literature
• A Case of Pseudohypoparathyroidism Misdiagnosed as Idiopathic Epilepsy for 5 Years: Clinical Analysis and Follow-up Outcomes
• A case report of a patient with primary familial brain calcification with a <em>PDGFRB</em> genetic variant
• A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
• A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype
• A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report
• A novel GNAS-Gsalpha splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism
• A Novel Maternally Inherited <em>GNAS</em> Variant in a Family With Hyperphagia and Obesity: 3 Cases
• A Rare Observation of Brachymetacarpia and Brachymetatarsia in a Patient with Primary Idiopathic Hypoparathyroidism
• Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants
• Acute coronary syndrome with severe coronary calcification in a patient with pseudo-pseudohypoparathyroidism
• Analysis of GNAS gene variant in a Chinese pedigree affected with pseudohypoparathyroidism
• Application of calcium-to-phosphorus (Ca/P) ratio in the diagnosis of pseudohypoparathyroidism: another piece in the puzzle of diagnosis of Ca-P metabolism disorders
• Atrophic macules containing mesenchymal cells are precursor lesions of osteoma cutis in Albright hereditary osteodystrophy
• Bartter Syndrome Type 1 Due to Novel <em>SLC12A1</em> Mutations Associated With Pseudohypoparathyroidism Type II
• Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II
• Basal ganglia calcification: pseudohypoparathyroidism with short fourth metacarpals
• Benign Recurrent Aseptic Meningitis Complicated by Pseudohypoparathyroidism: A Case Report
• C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature
• Calcitriol
• Calcitriol
• Characterization of digestive manifestations in patients with impaired PTH/PTHrP signaling (iPPSD)/Pseudohypoparathyroidism
• Characterizing Cerebral Imaging and Electroclinical Features of Five Pseudohypoparathyroidism Cases Presenting with Epileptic Seizures
• Clinical and genetic characteristics for 4 patients with Type Ib pseudohypoparathyroidism
• Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA
• Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
• Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
• Craniosynostosis in primary metabolic bone disorders: a single-institution experience
• Cutaneous Calcified Mass of Foot in Pseudohypoparathyoidism: Case Report
• Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report
• Effectiveness of topical sodium thiosulfate for ectopic calcifications and ossifications. Results of the CATSS-O study
• Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B
• Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients
• Fahr Syndrome Secondary to Pseudohypoparathyroidism
• Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
• Fahrs Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
• Frequency of <em>de novo</em> variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2
• Full-length versus intact PTH concentrations in pseudohypoparathyroidism type 1 and primary hyperparathyroidism: clinical evaluation of immunoassays in individuals from China
• Genetic Obesity Disorders: BMI trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General population
• Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
• Genotype phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review
• Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review
• GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B
• GNAS gene mutations affecting XLαs and bone health: A long neglected relationship
• High prevalence of hypercalcitoninemia in a large cohort of adult and paediatric patients with PTH resistance syndromes
• Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone
• Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A
• Induced pluripotent stem cells derived renal tubular cells from a patient with pseudohypoparathyroidism and its response to parathyroid hormone stimulation
• Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism
• Interpreting epigenetic causes of recurrent hypokalemia and seizures: Gitelman syndrome co-exist with pseudohypoparathyroidism type 1B
• Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal <em>STX16</em> deletion
• Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion
• Maternal Imprinting in Pseudohypoparathyroidism - A Very Rare GNAS Gene Mutation Follows the Pattern
• Medulloblastoma in a child with osteoma cutis - a rare association due to loss of <em>GNAS</em> expression
• Multiple brown tumors: a bone complication due to long-term untreated pseudohypoparathyroidism
• Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism
• New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results
• Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient
• Nutrition recommendations for patients with pseudohypoparathyroidism
• Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment
• One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents
• Osteoma cutis in pseudohypoparathyroidism type 1A
• Overweight and obesity in children and adolescents with endocrine disorders
• Parathyroid diseases and metabolic syndrome
• Parathyroid Hormone Resistance: An Uncommon Cause of Hypocalcaemia in an Adult Ghanaian Female
• Paroxysmal Dyskinesia in a case of Hypocalcemia with Hypothyroidism and Pseudohypoparathyroidism
• Pathogenic variants of the <em>GNAS</em> gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families
• Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the beta6 strand/alpha5 helix of Gsalpha, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families
• Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development
• Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism and variants: A translational medicine success story
• Pseudohypoparathyroidism during pregnancy and the postpartum period: A case series of five patients
• Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review
• Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review
• Pseudohypoparathyroidism versus signaling disorder: A case report
• Pseudohypoparathyroidism-A Rare Cause of Seizures in a Young Male
• Pseudohypoparathyroidism: complex disease variants with unfortunate names
• PTH, FGF-23, Klotho and Vitamin D as regulators of calcium and phosphorus: Genetics, epigenetics and beyond
• Rare case in Somalia: Fahr's syndrome
• Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation
• Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
• Recurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome
• Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion
• Spectrum of Disorders associated with Tetany
• Sporadic pseudohypoparathyroidism type 1B due to methylation abnormality combined with hypokalemia: A case report and review
• Structural and Functional Implication of Natural Variants of Gαs
• STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B
• Teaching NeuroImage: A 9-Year-Old Boy With Pseudohypoparathyroidism
• The Diagnosis of Albright's Osteodystrophy in a Case With Respiratory Failure
• The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis
• The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity
• Vara Deformity and Subluxed Humeral Heads: An Unusual Sign in Pseudohypoparathyroidism
• Variable Bone Phenotypes in Patients with Pseudohypoparathyroidism
• Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment
• Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism
• Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism