• 20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report
• 22q11.2 Deletion Syndrome Diagnosed 47 Years After Surgery for Tetralogy of Fallot
• 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 Modified 4-in-1 Stanisavljevic Procedure for Treating Obligatory or Congenital Patellar Dislocations in Children: A Surgical Technique
• 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
• Advance of research on 22q11.2 deletion syndrome
• An Unusual Relation in an Infant With Left Hemitruncus and Tetralogy of Fallot Along With Pulmonary Valve Syndrome: A Case Report
• Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing
• Anomalous Origin of Left Pulmonary Artery From the Left Carotid Artery With a Right Aortic Arch and Aberrant Left Subclavian Artery in a Neonate With DiGeorge Syndrome
• Application of array comparative genomic hybridization on the DNA extracted from cultured amniocytes for rapid diagnosis of 22q11.2 microdeletion in a pregnancy with a normal karyotype at amniocentesis and double outlet right ventricle and transposition o
• Cancer in 22q11.2 deletion syndrome: A case report and literature review
• Case report: A novel combination of anomalies in a patient with 22q11.2 deletion syndrome
• 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
• Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil
• Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders
• 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
• Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation
• 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
• Differential inflammatory profiles in carriers of reciprocal 22q11.2 copy number variants
• DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis
• 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
• Evaluation of the effect of palatoplasty on the quality of life and speech outcomes in patients with velocardiofacial syndrome
• Evans syndrome in the background of 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
• Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS
• Genetic diagnosis and analysis of eight cases with central 22q11.2 deletion syndrome
• Genetic profile of a large Spanish cohort with hypercalcemia
• Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis
• Human Genetics of Semilunar Valve and Aortic Arch Anomalies
• Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
• Human Genetics of Truncus Arteriosus
• Human Genetics of Ventricular Septal Defect
• Hybrid management of descending thoracic pseudoaneurysm in a patient with DiGeorge syndrome
• 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
• Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
• In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS
• Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study
• Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
• 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
• LncRNA KCNQ1OT1 promotes NLRP3 inflammasome activation in Parkinson's disease by regulating pri-miR-186/mature miR-186/NLRP3 axis
• Long-term Outcomes After Interrupted Aortic Arch Repair
• Mediastinitis caused by an NDM-1 Escherichia coli in a child with Dacron® Sano shunt after pulmonary atresia with ventricular septal defect surgery treated with combination of aztreonam-avibactam
• 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
• miR-29a-3p orchestrates key signaling pathways for enhanced migration of human mesenchymal stem cells
• Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome
• Multidisciplinary Velopharyngeal Dysfunction Evaluation Helps Detect Non-classic Cases of 22q11.2 Deletion
• Multiple Major Aortopulmonary Collateral Arteries With Tetralogy of Fallot and Other Congenital Cardiac Disorders Detected in the Fourth Decade: A Report of a Rare Case
• Multiplex droplet digital PCR for 22q11.2 microdeletions screening and DiGeorge syndrome diagnostics
• 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
• Neural Crest
• Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome
• Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables
• Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p
• Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome
• 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
• Postnatal outcome of fetal aberrant right subclavian artery: a single center study
• Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review
• 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
• Reduced amplitude and slowed latency of the acoustic startle response in adolescents and adults with 22q11.2 deletion syndrome
• Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome
• Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
• Risk of meningomyelocele mediated by the common 22q11.2 deletion
• 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
• Short communication: catechol-O-methyltransferase allelic variation in relation to psychological and hormonal indices of stress in children and adolescents with chromosome 22q11.2 deletion syndrome (22q11.2DS)
• Significant improvement of cardiac outflow tract septation defects in a DiGeorge syndrome model after minoxidil treatment
• Silencing METTL14 alleviates liver injury in non-alcoholic fatty liver disease by regulating mitochondrial homeostasis
• 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
• 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 role of long noncoding RNA DGCR5 in cancers: Focus on molecular targets
• 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
• 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
• Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context