• <em>Bartonella henselae</em> Neuroretinitis: A Rare Coinfection in POEMS Syndrome
• <em>Mycobacterium tuberculosis</em> ESAT6 and CPF10 Induce Adenosine Deaminase 2 mRNA Expression in Monocyte-Derived Macrophages
• 50 Years Ago in TheJournalofPediatrics: "CatEye Syndrome" and the Unraveling of the 22q.11.2 Genomic Region
• A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α
• A Child Diagnosed With Treatment-Resistant Polyarteritis Nodosa: Can the Clinical Diagnosis Be Different?
• A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings
• A Chinese DADA2 patient: report of two novel mutations and successful HSCT
• A Chinese family with cat eye syndrome and abnormality of eye movement: First case report
• A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome
• A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency
• A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot
• A Novel Variant of Adenosine Deaminase 2 Deficiency Presented With Chronic Thrombocytopenia, Anemia, and Early-Onset Stroke
• A structure and function relationship study to identify the impact of the R721G mutation in the human mitochondrial lon protease
• Activation of CECR1 in M2-like TAMs promotes paracrine stimulation-mediated glial tumor progression
• Adenosine deaminase 2 produced by infiltrative monocytes promotes liver fibrosis in nonalcoholic fatty liver disease
• Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause
• ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation
• An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome
• Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect
• Antioxidant Defense and Pseudoexfoliation Syndrome: An Updated Review
• Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
• Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst
• Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity
• Cardiac-associated biliary atresia (CABA): a prognostic subgroup
• Case report: Villaret's syndrome caused by middle ear adenocarcinoma in a cat
• Cat eye syndrome
• Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
• Cat Eye Syndrome with a Unique Liver and Dermatological Presentation
• Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
• Cat-eye syndrome (a psychiatric aspect)
• Cat-Eye Syndrome: A Report of Two Cases and Literature Review
• CD138 as a Specific CSF Biomarker of Multiple Sclerosis
• CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma
• CECR2 drives breast cancer metastasis by promoting NF-κB signaling and macrophage-mediated immune suppression
• Cecr2 mutant mice as a model for human cat eye syndrome
• Changes in Cat Facial Morphology Are Related to Interaction with Humans
• Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
• Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions
• Clinical Features of Aberrations Chromosome 22q: A Pilot Study
• CNV analysis in 169 patients with bladder exstrophy-epispadias complex
• Comparative proteomic analysis of cat eye syndrome critical region protein 1- function in tumor-associated macrophages and immune response regulation of glial tumors
• Concurrent Hirschsprung's disease and anorectal malformation: a systematic review
• Congenital diaphragmatic hernia in a case of Cat eye syndrome
• Congenital Eyelid Imbrication and Floppy Eyelid Syndrome in a Patient With Cat Eye Syndrome
• Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
• Correction to "Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases"
• COVID-19 and Pneumolysis Simulating Extreme High-altitude Exposure with Altered Oxygen Transport Physiology; Multiple Diseases, and Scarce Need of Ventilators: Andean Condor's-eye-view
• Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q
• Cytotoxic activity of bromodomain inhibitor NVS-CECR2-1 on human cancer cells
• De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome
• Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences
• Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases
• Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation
• Development of alternating, ipsilateral Horner syndrome and Pourfour du Petit syndrome associated with oesophagostomy tube placement in a cat
• Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation
• Discovery of a highly potent CECR2 bromodomain inhibitor with 7H-pyrrolo[2,3-d] pyrimidine scaffold
• Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene
• Effect of 0.15% sodium hyaluronate on tear film breakup time in healthy anesthetized cats
• Free episomal and integrated HBV DNA in HBsAg-negative patients with intrahepatic cholangiocarcinoma
• Glaucoma Associated with Anterior Segment Dysgenesis in Dogs and Cats
• GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2)
• Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report
• Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
• IMI-Management and Investigation of High Myopia in Infants and Young Children
• Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
• Influence of timolol, benzalkonium-preserved timolol, and benzalkonium-preserved brimonidine on oxidative stress biomarkers in the tear film
• Kaposi's sarcoma: When AIDS catches your eye
• LncRNA CECR7 boosts hepatocellular carcinoma progression by recruiting RNA binding protein U2AF2 to enhance the stability of EXO1 mRNA
• Measuring glaucoma quality of life in an Asian population using item banking: psychometric evaluation and computerized adaptive testing simulations
• Monogenic polyarteritis: the lesson of ADA2 deficiency
• Mosaic cat eye syndrome in a child with unilateral iris coloboma
• Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review
• Mullerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review
• Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases
• Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos
• Next-generation phenotyping in cat-eye syndrome based on computer-aided facial dysmorphology analysis of normal photographs
• Optical controlled and nuclear targeted CECR2 competitor to downregulate CSF-1 for metastatic breast cancer immunotherapy
• Optimization of Potent ATAD2 and CECR2 Bromodomain Inhibitors with an Atypical Binding Mode
• Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome
• Parasomnias and Sleep-Related Movement Disorders in Older Adults
• Parinaud's Oculoglandular Syndrome: A Case in an Adult with Flea-Borne Typhus and a Review
• Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome
• Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases
• Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis
• Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22
• Psychometric Evaluation of Glaucoma Quality of Life Item Banks (GlauCAT) and Initial Assessment Using Computerized Adaptive Testing
• Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome
• Rare otologic presentation of cat eye syndrome
• Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2
• Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization
• Single cell atlas for 11 non-model mammals, reptiles and birds
• Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency
• Suspected Transmission of Severe Fever with Thrombocytopenia Syndrome Virus from a Cat to a Veterinarian by a Single Contact: A Case Report
• The Continuing Ophthalmic Challenge of <em>Bartonella henselae</em>
• The role of CECR1 in the immune-modulatory effects of butyrate and correlation between ADA2 and M1/M2 chemokines in tuberculous pleural effusion
• The Role of Repeat DNA Sequences in Human Evolution and Disease
• The same mutation in a family with adenosine deaminase 2 deficiency
• Therapeutic Recommendations for the Management of Older Adult Patients with Sjögren's Syndrome
• Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region
• Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Behçet's disease and autoinflammation. A viewpoint