• <em>GNAS, PDE4D</em>, and <em>PRKAR1A</em> Mutations and <em>GNAS</em> Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children
• A novel de novo PDE4D gene mutation identified in a Chinese patient with acrodysostosis
• A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report
• Acrodysostosis
• Acrodysostosis
• Acrodysostosis
• Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias
• Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants
• Acrodysostosis and spinal canal involvement
• Acrodysostosis associated with hypercalcemia
• Acrodysostosis associated with spinal canal stenosis
• Acrodysostosis in a sister and brother born to normal parents
• Acrodysostosis in two generations: an autosomal dominant syndrome
• Acrodysostosis syndromes
• Acrodysostosis with 5 alpha reductase deficiency: an unusual association
• Acrodysostosis with unusual iridal color changing with age
• Acrodysostosis: A new form of pseudohypoparathyroidism?
• Acrodysostosis: an autosomal inherited form of peripheral dysostosis
• Acrodysostosis: autosomal dominant transmission
• Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?
• Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
• Adult case of acrodysostosis with severe neurologic involvement
• Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature
• Autosomal dominant transmission of acrodysostosis
• cAMP-dependent activation of the Rac guanine exchange factor P-REX1 by type I protein kinase A (PKA) regulatory subunits
• Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector
• Corrigendum: Impact of kinase activating and inactivating patient mutations on binary PKA interactions
• Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder
• Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
• Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
• Dominant-Negative Attenuation of cAMP-Selective Phosphodiesterase PDE4D Action Affects Learning and Behavior
• Endocrinological and phenotype evaluation in a patient with acrodysostosis
• Engineered stabilization and structural analysis of the autoinhibited conformation of PDE4
• Epiphyseal stippling in acrodysostosis
• Evaluation of polysomnography findings in children with genetic skeletal disorders
• Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis
• Exome sequencing identifies PDE4D mutations in acrodysostosis
• Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
• Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy?
• Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
• From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
• Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex
• G<em>α</em>s-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant G<em>α</em>s-PKA Signaling
• Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance
• Genetic analysis of a child with acrodysostosis type 2
• Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis
• Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
• Heterozygous variation identified in PDE4D gene caused acrodysostosis
• Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis
• Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders
• Impact of kinase activating and inactivating patient mutations on binary PKA interactions
• Impaired cAMP processivity by phosphodiesterase-protein kinase A complexes in acrodysostosis
• Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders
• Inactivating PTH/PTHrP Signaling Disorders
• KBG syndrome presenting with brachydactyly type E
• Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis
• Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report
• Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report
• Metabolic syndrome manifestations in an adolescent with acrodysostosis
• Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance
• Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
• Multiple hormonal resistances: Diagnosis, evaluation and therapy
• Multiple hormone resistance and alterations of G-protein-coupled receptors signaling
• Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3
• Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations
• Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis
• Novel mutations of the PRKAR1A gene in patients with acrodysostosis
• Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis
• One single signaling pathway for so many different biological functions: lessons from the cyclic adenosine monophosphate/protein kinase A pathway-related diseases
• Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs)
• Pathophysiology of Hypoparathyroidism
• Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation
• Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
• Phosphodiesterase-4 (PDE4) molecular pharmacology and Alzheimer's disease
• Picture of the month. Acrodysostosis
• PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance
• PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues
• Pseudohypoparathyroidism type Ib in 2015
• Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?
• RACK1 and β-arrestin2 attenuate dimerization of PDE4 cAMP phosphodiesterase PDE4D5
• Radicular claudication revealing possible acrodysostosis: A case report
• Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism
• Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
• Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance
• Regulatory mechanism of calcium metabolism.
• Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology
• Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism
• Shortening Scarf Osteotomy for Macrodactyly and Valgus of the Hallux in Acrodysostosis Lesser Toes Brachydactyly
• Sleep-disordered breathing and its management in children with rare skeletal dysplasias
• Structure of a PKA RIalpha Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation
• Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation
• The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis
• The use of a computerized method of bone age assessment in clinical practice
• Transgene insertion in intronic sequences of Mdga2 gene shows methylation in an imprinted manner in an Acrodysplasia (Adp) mouse line
• Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations
• Type IIIc Gaucher disease and acrodysostosis
• UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS