• 'Treasure your exceptions': what we can learn from autosomal-dominant inherited forms of hypertension
• A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E
• A cross-over medication trial for patients with autosomal-dominant hypertension with brachydactyly
• A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21-12p12.2 by oligonucleotide array CGH
• A new syndrome with ocular, skeletal and renal involvement
• A PDE3A mutation in familial hypertension and brachydactyly syndrome
• A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty
• Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly
• Arterial hypertension with brachydactyly in a 15-year-old boy
• Autonomic nervous system function in patients with monogenic hypertension and brachydactyly: a field study in north-eastern Turkey
• Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension
• Autosomal dominant hypertension with brachydactyly: an enigmatic form of monogenic hypertension
• Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12
• Baroreflex buffering and susceptibility to vasoactive drugs
• Bone morphogenetic protein receptor signal transduction in human disease
• Brachydactylia as a phenotypic feature of mitochondrial disorder
• Brachydactyly E: isolated or as a feature of a syndrome
• Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations
• Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families
• Childhood hypertension in autosomal-dominant hypertension with brachydactyly
• Ciliopathy: Bardet-Biedl Syndrome
• Clinical and Molecular Perspectives of Monogenic Hypertension
• Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly
• Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder
• Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family
• Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension
• Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
• Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities
• Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension
• Genetics and arterial hypertension: monogenic forms
• Genetics in hypertension research. What can we learn from it regarding common essential hypertension?
• Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p
• Grange syndrome due to homozygous YY1AP1 missense rare variants
• Grange syndrome: an identifiable cause of stroke in young adults
• Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1
• Hereditary brachydactyly associated with hypertension
• Heterogeneity of autonomic regulation in hypertension and neurovascular contact
• Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation
• Hypertension and brachydactyly syndrome: a further case report
• Hypertension linked to PDE3A activation
• Hypertension with brachydactyly
• Hypertension With Brachydactyly Syndrome: A Case Report
• Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing
• Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders
• Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism
• Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4
• Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA
• Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic
• Mendelian forms of human hypertension and mechanisms of disease
• Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology
• Monogenic forms of human hypertension
• Monogenic hypertension
• Monogenic hypertension
• Monogenic hypertension
• Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report
• Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage
• Mutations in Phosphodiesterase 3A (<em>PDE3A</em>) Cause Hypertension Without Cardiac Damage
• Myhre and LAPS syndromes: clinical and molecular review of 32 patients
• Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly
• New Developments in the Genetics of Hypertension: What Should Clinicians Know?
• PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome)
• PDE3A mutations cause autosomal dominant hypertension with brachydactyly
• PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features
• Phosphodiesterase 3A and Arterial Hypertension
• Present status of genetic mechanisms in hypertension
• Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children
• Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man
• Roles of A-Kinase Anchoring Proteins and Phosphodiesterases in the Cardiovascular System
• Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
• Severely impaired baroreflex-buffering in patients with monogenic hypertension and neurovascular contact
• The Case| A handful of hypertension
• The molecular basis of hypertension
• WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy
• Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
• Woman with non-insulin dependent diabetes mellitus, brachydactyly, hypocalcemia and arterial hypertension