Disease: DiGeorge 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-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features
- A case with tetralogy of Fallot and thymus hypoplasia found by ultrasound was eventually diagnosed as DiGeorge syndrome
- A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery
- A model for preservation of thymocyte-depleted thymus
- 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
- An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome
- Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing
- Approaches to studying the impact of 22q11.2 copy number variants
- 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 Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
- Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome-A Retrospective Analysis
- 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
- Description of Neuropsychological Profile in Patients with 22q11 Syndrome
- Diagnosis of 22q11.2 deletion syndrome in children with congenital heart diseases and facial dysmorphisms
- DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion
- 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
- Editorial on case reports in pediatric immunology 2022
- 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
- Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
- 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
- Factors Associated With Mortality and Adverse Outcomes After Truncus Arteriosus Repair
- From Gene to Brain and Behavior: Excitatory and Inhibitory Imbalance and Psychosis in Individuals With 22q11.2 Deletion Syndrome
- Genetic diagnosis and analysis of eight cases with central 22q11.2 deletion syndrome
- Genetic profile of a large Spanish cohort with hypercalcemia
- 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
- Ileal Dysbiosis Is Associated with Increased Acoustic Startle in the 22q11.2 Microdeletion Mouse Model of Schizophrenia
- Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
- Impact of newborn screening for SCID on the management of congenital athymia
- Improving patient understanding of prenatal screening tests: Using naturally sampled frequencies, pictures, and accounting for individual differences
- Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study
- Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
- Intercellular cross-talk through lineage-specific gap junction of cancer-associated fibroblasts related to stromal fibrosis and prognosis
- 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
- Lymphatic endothelial transcription factor Tbx1 promotes an immunosuppressive microenvironment to facilitate post-myocardial infarction repair
- Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation
- METTL14 mediates m<sup>6</sup>a modification on osteogenic proliferation and differentiation of bone marrow mesenchymal stem cells by regulating the processing of pri-miR-873
- Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array
- 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
- 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
- Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay
- Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
- 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
- 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
- Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up
- 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
- 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
- Suppressive stroma-immune prognostic signature impedes immunotherapy in ovarian cancer and can be reversed by PDGFRB inhibitors
- TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis
- Targeting Melanoma-Associated Fibroblasts (MAFs) with Activated γδ (Vδ2) T Cells: An In Vitro Cytotoxicity Model
- 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
- 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
- Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry
- Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context