Disease: Rieger syndrome 2
- 'Distraction Vaginogenesis': Preliminary Results Using a Novel Method for Vaginal Canal Expansion in Rats
- "Multisystem Inflammatory Syndrome in Children" (MIS-C) after COVID-19 Infection in the Metropolitan Area of Nuremberg-Erlangen, Germany-Expectations and Results of a Two-Year Period
- 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
- 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
- A case of an adult regaining vision in the amblyopic eye
- A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay
- A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
- A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome
- A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome
- A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome
- A novel PITX2 mutation in non-syndromic orodental anomalies
- A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein
- A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome
- An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis
- Ancient DNA Study in Medieval Europeans Shows an Association Between HLA-DRB1*03 and Paratyphoid Fever
- APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant
- Approach to childhood glaucoma: A review
- Auditory and Cognitive Behavioral Performance Deficits and Symptom Reporting in Postconcussion Syndrome Following Mild Traumatic Brain Injury
- Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye
- Axenfeld-Rieger Syndrome
- Axenfeld-Rieger syndrome as rare cause of umbilical abnormality
- Axenfeld-Rieger syndrome combined with ectropion uveae and pigment dispersion syndrome: A case report
- Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate <em>NKX2-5</em> in model zebrafish embryos
- Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate NKX2-5 in model zebrafish embryos
- Axenfeld-Rieger syndrome: Case report
- Axenfeld-Rieger syndrome: ophthalmological and dental diagnostic and therapeutic options
- Axenfeld–Rieger syndrome: ophthalmological and dental diagnostic and therapeutic options
- Axial level-specific regulation of neuronal development: lessons from PITX2
- Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature
- Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
- Causes of congenital corneal opacities and their management in a tertiary care center
- Characteristics of Corneal Endothelium in Axenfeld Rieger Spectrum
- Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in <em>PIK3R1</em> with reduced penetrance
- Clinical Assessment of Concussion and Persistent Post-Concussive Symptoms for Neurologists
- Clinical Characterization of Mogamulizumab-Associated Rash During Treatment of Mycosis Fungoides or Sézary Syndrome
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
- Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome
- Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature
- De Novo Development of Distal Jejunal and Duodenal Adenomas After 41 Months of Teduglutide Treatment in a Patient With Short-Bowel Syndrome: A Case Report
- Detection of metabolic syndrome with ATR-FTIR spectroscopy and chemometrics in blood plasma
- Early-Onset Glaucoma in <em>egl1</em> Mice Homozygous for <em>Pitx2</em> Mutation
- Enamel defects of Axenfeld-Rieger syndrome and the role of PITX2 in its pathogenesis
- ERPs predict symptomatic distress and recovery in sub-acute mild traumatic brain injury
- Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation
- Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition
- Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants
- Genetic determinants of responsiveness to mesenchymal stem cell injections in non-ischemic dilated cardiomyopathy
- Genetic linkage between altered tooth and eye development in lens-ablated Astyanax mexicanus
- Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment
- Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome
- Growth hormone-releasing hormone agonists ameliorate chronic kidney disease-induced heart failure with preserved ejection fraction
- Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma
- Histopathologic Characterization of Mogamulizumab-associated Rash
- Histopathologic correlation of skin manifestations of multisystem inflammatory syndrome in adults associated with SARS-CoV-2 infection
- Identification and functional study of FOXC1 variants in Chinese families with glaucoma
- Illness perception and health care use in individuals with irritable bowel syndrome: results from an online survey
- In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene
- Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2
- Laser corepraxy in mesodermal iris dysgenesis (Axenfeld-Rieger syndrome) (case report)
- Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay
- Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients
- Neural crest derivatives in ocular development: discerning the eye of the storm
- Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series
- Neutralization of SARS-CoV-2 Variants of Concern in Kidney Transplant Recipients after Standard COVID-19 Vaccination
- Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome
- Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome
- Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis
- Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome
- OLOGEN() implant in the management of glaucoma in an unusual case of Axenfeld-Rieger syndrome
- Ophthalmological Findings in 6p Deletion Syndrome
- Paediatric glaucoma in Hong Kong: a multicentre retrospective analysis of epidemiology, presentation, clinical interventions, and outcomes
- Pediatric glaucoma suspects
- PITX2 deficiency and associated human disease: insights from the zebrafish model
- Plating vs Closed Reduction for Fractures in the Distal Radius in Older Patients: A Secondary Analysis of a Randomized Clinical Trial
- Posterior embryotoxon as the initial ophthalmological sign of Axenfeld-Rieger syndrome
- PRAME expression in melanocytic proliferations with intermediate histopathologic or spitzoid features
- Progressive High Hypermetropic Shift as a Refractive Surprise Following Glaucoma Filtration Surgery in a Phakic Child With Early-Onset Childhood Glaucoma Associated With Axenfeld-Rieger Anomaly
- Quality of life and sleep in individuals with irritable bowel syndrome according to different diagnostic criteria and inflammatory bowel diseases: A comparison using data from a population-based survey
- Refining medical clearance protocol for patients with primary psychiatric complaints in the emergency department
- Repeat keratoplasty in failed Descemet stripping automated endothelial keratoplasty
- Sella turcica morphology in patients with genetic syndromes: A systematic review
- Single domain shark VNAR antibodies neutralize SARS-CoV-2 infection in vitro
- Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome
- Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome
- Surgical Outcomes of Glaucoma Drainage Device Implantation in Refractory Glaucoma Patients in Thailand
- The 6p25 deletion syndrome: An update on a rare neurocristopathy
- The Axenfeld-Rieger Syndrome Gene <em>FOXC1</em> Contributes to Left-Right Patterning
- The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning
- The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome
- The clinical outcomes of keratoplasty in irreversible corneal decompensation secondary to Axenfeld-Rieger syndrome
- The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report
- The Diverse Consequences of <em>FOXC1</em> Deregulation in Cancer
- The morphology of angle dysgenesis assessed by ultrasound biomicroscopy and its relationship with glaucoma severity and mutant genes in Axenfeld-Rieger syndrome
- The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification
- Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
- Treatment of chronic and extreme ocular hypotension following glaucoma surgery with intraocular platelet-rich plasma: A case report
- Two Cases With Features of Lymphocyte Variant Hypereosinophilic Syndrome With STAT3 SH2 Domain Mutations
- Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature
- Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11
- Whole genome sequencing in families with oligodontia
