Disease: Jones syndrome
- <em>PRDM16</em> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
- 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines
- 2023 ESC Guidelines for the management of acute coronary syndromes
- A case series of a mother and two daughters with a <em>GLI2</em> gene deletion demonstrating variable expressivity and incomplete penetrance
- A high-throughput screening system for SARS-CoV-2 entry inhibition, syncytia formation and cell toxicity
- A nanobody recognizes a unique conserved epitope and potently neutralizes SARS-CoV-2 omicron variants
- A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome
- A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling
- A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
- Anatomic Relationship of Hand Intrinsic Tendons at the Metacarpal Head as It Relates to the Diagnosis of Saddle Syndrome: A Cadaveric Study
- Assessment of rapid wastewater surveillance for determination of communicable disease spread in municipalities
- Automated detection of immune effector cell-associated neurotoxicity syndrome via quantitative EEG
- Cardiac Magnetic Resonance Imaging Versus Invasive-Based Strategies in Patients With Chest Pain and Detectable to Mildly Elevated Serum Troponin: A Randomized Clinical Trial
- Case report: A case of Culler-Jones syndrome caused by a novel mutation of <em>GLI2</em> gene and literature review
- Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review
- Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
- Cleft Palate in a Newborn With Trisomy 21: A Case Report
- Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene
- Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome
- Clinical Outcomes in Hypertensive Emergency: A Systematic Review and Meta-Analysis
- Clinical presentation and evaluation of epilepsy with eyelid myoclonia: Results of an international expert consensus panel
- Comparison of 16 Pediatric Acute Respiratory Distress Syndrome-Associated Plasma Biomarkers With Changing Lung Injury Severity
- Comparison of mortality of brachycephalic dogs undergoing partial staphylectomy using conventional incisional, carbon dioxide laser, or bipolar vessel sealing device
- Compartment Syndrome Secondary to Calcium Gluconate Extravasation
- Cost-utility analysis of mogamulizumab in advanced mycosis fungoides and Sézary syndrome cutaneous T-cell lymphoma
- COVID-19 in Western Australia: 'The last straw' and hopes for a 'new normal' for parents of children with long-term conditions
- Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome
- Craniofacial anomalies in a murine model of heterozygous fibroblast growth factor 10 gene mutation
- Craniosynostosis update 1987
- Criteria for diagnosis of Sjogren-Jones syndromes
- Culler-Jones syndrome caused by a new mutated GLI2 gene: a case report
- Defecation symptoms in primary health care patients with irritable bowel syndrome
- Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature
- Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous <em>GNRH1</em> p.R31C and <em>AMHR2</em> p.G445_L453del Variants
- Digital home monitoring for capturing daily fluctuation of symptoms; a longitudinal repeated measures study: Long Covid Multi-disciplinary Consortium to Optimise Treatments and Services across the NHS (a LOCOMOTION study)
- Divergent Findings in the Diagnosis of ATTR-CM Using Common Cardiac Diagnostics and 99mTc-DPD Scintigraphy
- DNA methylation signatures of functional somatic syndromes: Systematic review
- Early Outcomes of SARS-CoV-2 Infection in a Multisite Prospective Cohort of Inpatient Veterans
- eLearning improves allied health professionals' knowledge and confidence to manage medically unexplained chronic fatigue states: A randomized controlled trial
- Evaluation of a lipid management pathway within a local cardiac rehabilitation service
- Evidence of neuroinflammation in fibromyalgia syndrome: a [18F]DPA-714 positron emission tomography study
- Exposure to ambient air pollutants and acute respiratory distress syndrome risk in sepsis
- Five-year mortality after traumatic central cord syndrome in Wales
- Fruquintinib versus placebo in patients with refractory metastatic colorectal cancer (FRESCO-2): an international, multicentre, randomised, double-blind, phase 3 study
- Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
- Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn
- Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
- Gingival Enlargement in a Case of Variant Jones Syndrome: a Case Report
- Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome
- Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors
- Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum
- Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome
- Hospitalisation due to acute cardiovascular conditions: is screening for recreational drug use justified?
- Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model
- Identification and characterisation of a rare <em>MTTP</em> variant underlying hereditary non-alcoholic fatty liver disease
- Idiopathic gingival fibromatosis associated with progressive hearing loss: A nonfamilial variant of Jones syndrome
- In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome
- Increasing early infant male circumcision uptake in Zambia: Like father like son
- Instrumented cervical fusion using patient specific end-plate conforming interbody devices with a micro-porous structure in nine dogs with disk-associated cervical spondylomyelopathy
- Intravenous aviptadil and remdesivir for treatment of COVID-19-associated hypoxaemic respiratory failure in the USA (TESICO): a randomised, placebo-controlled trial
- Isolation of porcine reproductive and respiratory syndrome virus from feed ingredients and complete feed, with subsequent RT-qPCR analysis
- Joint chondromatosis. Results in 40 surgically and conservatively treated patients
- Maintenance lenalidomide in newly diagnosed transplant eligible and non-eligible myeloma patients; profiling second primary malignancies in 4358 patients treated in the Myeloma XI Trial
- Management of epilepsy with eyelid myoclonia: Results of an international expert consensus panel
- Mediator kinase inhibition suppresses hyperactive interferon signaling in Down syndrome
- Mild case of Curry-Jones syndrome
- Morbidity and Mortality Associated With Heart Failure in Acute Coronary Syndrome: A Pooled Analysis of 4 Clinical Trials
- Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
- Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome
- Oral SARS-CoV-2 host responses predict the early COVID-19 disease course
- Pathogenic REST variant causing Jones syndrome and a review of the literature
- Plasma matrix metalloproteinase-3 predicts mortality in acute respiratory distress syndrome: a biomarker analysis of a randomized controlled trial
- Post-acute (long) COVID-19 quality of life: validation of the German version of (PAC19QoL) instrument
- Post-COVID symptom profiles and duration in a global convalescent COVID-19 observational cohort: Correlations with demographics, medical history, acute COVID-19 severity and global region
- Post-Transplantation Cyclophosphamide-Based Graft-versus-Host Disease Prophylaxis
- Prenatal Intravenous Magnesium at 30-34 Weeks' Gestation and Neurodevelopmental Outcomes in Offspring: The MAGENTA Randomized Clinical Trial
- Primary and secondary Sjogren-Jones syndromes-historical evolution
- Pyogenic granuloma with satellitosis
- Recurrent pyogenic granuloma or Warner and Wilson-Jones syndrome
- Repurposing and computational design of PARP inhibitors as SARS-CoV-2 inhibitors
- Repurposing Niclosamide as a Novel Anti-SARS-CoV-2 Drug by Restricting Entry Protein CD147
- Safety and feasibility of adjunct autologous cord blood stem cell therapy during the Norwood heart operation
- Spatiotemporal relative risk distribution of porcine reproductive and respiratory syndrome virus in the United States
- Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype
- Successful Treatment of Von Hippel-Lindau (VHL) Disease-Associated Retinal Capillary Hemangioblastoma (RCH) with Belzutifan in a Pediatric Patient
- Synovial chondrosis. Chondromatosis--osteochondromatosis
- Systemic capillary leak syndrome secondary to decompression sickness
- Temporal trends in, and risk factors for, HIV seroconversion among female sex workers accessing Zimbabwe's national sex worker programme, 2009-19: a retrospective cohort analysis of routinely collected HIV testing data
- The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss
- The genetic landscape of developmental and epileptic encephalopathy with spike-and-wave activation in sleep
- The impact of CFTR modulator triple therapy on type 2 inflammatory response in patients with cystic fibrosis
- The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years
- The safety of deferred coronary angiography in COVID-19 patients with acute coronary syndrome: the Barts COVID recovered pathway
- Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism
- Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway
- Usefulness of nabilone as an antiemetic in persistent vomiting due to refractory gastrointestinal disorders
- Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome
- Violaceous papules of the back: a quiz. Diagnosis: recurrent pyogenic granuloma or Warner and Wilson-Jones syndrome (1, 2)
- Vision outcomes in children with fetal alcohol spectrum disorders
- What is your diagnosis? Recurrent lobular capillary hemangioma with satellitosis (Warner and Wilson-Jones syndrome)