Disease: Velocardiofacial syndrome
- 22q11.2 Deletion Syndrome Diagnosed 47 Years After Surgery for Tetralogy of Fallot
- 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients
- 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
- 22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features
- A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery
- A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens
- A Window to Life: A Rare Association of a Small, Proximal Aortopulmonary Window With Pulmonary Atresia/Ventricular Septal Defect
- Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome
- Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing
- Anesthetic Consideration in Pierre Robin Sequence
- Assessing Complication Risk of Pressure Equalizing Tube Placement in Children With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome/DiGeorge Syndrome)
- Cancer-associated fibroblasts in early-stage lung adenocarcinoma correlate with tumor aggressiveness
- Case report: A novel combination of anomalies in a patient with 22q11.2 deletion syndrome
- Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap
- Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
- Clozapine Use in 22q11.2 Deletion Syndrome: A Systematic Review of the Literature
- Comparison of Elicitation Approaches in Early Stage HTA Applied on Artificial Thymus for Patients with DiGeorge Syndrome
- Congenital continuous retrograde basilar flow suggests type B interrupted aortic arch in a neonate: A case report
- Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities
- Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
- Corrigendum to "Plasma cells are essentially absent in the luminal gastrointestinal tract of patients with "complete" 22q11.2 Deletion Syndrome (DiGeorge Syndrome)." [Human Pathology (2021) 117, 1e8]
- De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome
- Diagnosis of 22q11.2 deletion syndrome in children with congenital heart diseases and facial dysmorphisms
- DiGeorge Syndrome
- DiGeorge syndrome presenting with palmoplantar pustules: Comparative analysis of serum IL-22, NETs and IL-8 with usual palmoplantar pustulosis
- Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus
- Drosophila as a Model to Understand Second Heart Field Development
- Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations
- Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series
- Evaluation of the effect of palatoplasty on the quality of life and speech outcomes in patients with velocardiofacial syndrome
- Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome
- Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy
- Genetic diagnosis and analysis of eight cases with central 22q11.2 deletion syndrome
- Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
- Genetic profile of a large Spanish cohort with hypercalcemia
- Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis
- Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2
- Hypocalcemia and Graves' disease associated with 22q11.2 deletion syndrome
- Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review
- Immunodeficiency
- Immunologic, Molecular, and Clinical Profile of Patients With Chromosome 22q11.2 Duplications
- Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
- Improved outcomes in patients with prenatally detected 22q11.2 deletion syndrome
- Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study
- Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
- Investigation of 22q11.2 Deletion in Japanese Early-Onset Parkinsonism
- Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review
- Late-Onset 22q11.2 Deletion Syndrome With Mild Cardiac Phenotype: A Unique Adult Presentation Diagnosed at 45 Years of Age
- Long-term Outcomes After Interrupted Aortic Arch Repair
- Longitudinal Development of Thalamocortical Functional Connectivity in 22q11.2 Deletion Syndrome
- Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation
- Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array
- Mitochondrial proteins encoded by the 22q11.2 neurodevelopmental locus regulate neural stem and progenitor cell proliferation
- N6-methyladenosine-induced miR-182-5p promotes multiple myeloma tumorigenesis by regulating CAMK2N1
- Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
- Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome
- Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome
- Omenn syndrome in a 10-month-old male with athymia and VACTERL association
- Outcomes of primary repair of cleft palate using sommerled intravelar veloplasty associated with velocardiofacial syndrome
- Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
- Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study
- Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report
- PGR - 2 Demons In The Mirrors: A Childhood Case Report of 22q11.2 Deletion Syndrome First Addressed By Tele-Neuropsychological Evaluation During The COVID-19 Lockdown
- Postnatal outcome of fetal aberrant right subclavian artery: a single center study
- Prenatal detection of 22q11.2 deletion syndrome and congenital heart disease
- Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
- Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
- Primary and secondary defects of the thymus
- Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity
- Pulmonary Alveolar Proteinosis
- Rare cause of persistent hypocalcaemia in infancy due to PTH gene mutation
- Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome
- Right Aortic Arches
- Safety and efficacy of biologic immunosuppressive treatment in juvenile idiopathic arthritis associated with inborn errors of immunity
- Salivary alpha-Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome
- Self-reported eye contact sensitivity and face processing in chromosome 22q11.2 deletion syndrome
- Silencing METTL14 alleviates liver injury in non-alcoholic fatty liver disease by regulating mitochondrial homeostasis
- Sleep in 22q11.2 Deletion Syndrome: Current Findings, Challenges, and Future Directions
- Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders
- Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome
- Speckle-Tracking Strain Analysis for Mapping Spatiotemporal Contractility of Induced Pluripotent Stem Cell (iPSC)-Derived Cardiomyocytes
- Th1/interferon-gamma bias in 22q11.2 deletion syndrome is driven by memory T cells and exacerbated by IL-7
- Th1/interferon-γ bias in 22q11.2 deletion syndrome is driven by memory T cells and exacerbated by IL-7
- Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs)
- Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders
- The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review
- The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos
- The Outcomes of Cardiac Surgery in Children With DiGeorge Syndrome in a Single Center Experience: A Retrospective Cohort Study
- The relationship between prognosis of patients with traumatic brain injury and microRNA biogenesis proteins
- The role of long noncoding RNA DGCR5 in cancers: Focus on molecular targets
- Transcriptional linkage analysis with in vivo AAV-Perturb-seq
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors
- Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome
- Using transcranial alternating current stimulation to enhance working memory skills in youths with 22q11.2 deletion syndrome: A randomized double-blind sham-controlled study
- Ustekinumab for Psoriasis and Psoriatic Arthritis in Adolescents with 22q11.2 Deletion Syndrome
- Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome
- Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
- Velocardiofacial Syndrome
- Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context