Research map: PAX6 -associated aniridia and RPGR -related X-linked retinitis pigmentosa: a rare dual Mendelian molecular diagnosis

Back to the article

Papers in this map

  1. Perspective on Genes and Mutations Causing Retinitis Pigmentosa · Stephen P. Daiger · 2007 · 481 citations · Cited by this paper
  2. Rapid initiation of standard-volume plasma exchange for acute liver failure from dengue infection · 2026 · Related
  3. Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives · Marina França Dias · 2017 · 421 citations · Cited by this paper
  4. Treatment of spontaneous hyphema in Fuch’s heterochromic iridocyclitis with intravitreal anti-VEGF ranibizumab · 2026 · Related
  5. The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye · Dulce Lima Cunha · 2019 · 203 citations · Cited by this paper
  6. Spontaneous rupture of renal calyx in pregnancy · 2026 · Related
  7. Genetic testing and diagnosis of inherited retinal diseases · Byron L. Lam · 2021 · 81 citations · Cited by this paper
  8. Idiopathic sleep terror in an adult patient · 2026 · Related
  9. Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy · Anika Nanda · 2018 · 61 citations · Cited by this paper
  10. Intracholecystic papillary neoplasm with associated invasive carcinoma mimicking adenomyomatosis · 2026 · Related
  11. Management of Congenital Aniridia-Associated Keratopathy: Long-Term Outcomes from a Tertiary Referral Center · Ghasem Yazdanpanah · 2019 · 45 citations · Cited by this paper
  12. Combined laryngocele: an atypical cause of acute airway obstruction · 2026 · Related
  13. Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis · Pedro Calvão-Pires · 2014 · 36 citations · Cited by this paper
  14. Medullary haemorrhagic interstitial nephritis in multisystem inflammatory syndrome in adults following COVID-19 · 2026 · Related
  15. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia · Vivienne Kit · 2021 · 36 citations · Cited by this paper
  16. Peripartum varicella infection in pregnancy: intrapartum, postpartum and recurrent risk presentations · 2026 · Related
  17. Wide-field fundus autofluorescence imaging in patients with hereditary retinal degeneration: a literature review · Akio Oishi · 2019 · 26 citations · Cited by this paper
  18. Non-traumatic spinal cord ischaemia – Surfer’s myelopathy · 2026 · Related
  19. A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR-ASSOCIATED X-LINKED RETINITIS PIGMENTOSA · Byron L. Lam · 2023 · 24 citations · Cited by this paper
  20. Fulminant invasive group A streptococcal infection following influenza A during pregnancy resulting in maternal near-miss · 2026 · Related
  21. PAX6 disease models for aniridia · Dorsa Abdolkarimi · 2022 · 19 citations · Cited by this paper
  22. Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males · Lisa C. Vinikoor-Imler · 2022 · 18 citations · Cited by this paper
  23. Spectral-Domain Optical Coherence Tomographic Characteristics of Autosomal Recessive Isolated Foveal Hypoplasia · Norman A. Saffra · 2012 · 15 citations · Cited by this paper
  24. X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR · Friederike Charlotte Kortüm · 2021 · 12 citations · Cited by this paper
  25. Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods · Yupeng Liu · 2024 · 9 citations · Cited by this paper
  26. Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy · Nida Wongchaisuwat · 2023 · 6 citations · Cited by this paper
  27. Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies · João Pedro Marques · 2025 · 5 citations · Cited by this paper
  28. Congenital aniridia: European COST action ANIRIDIA ‐ NET guidelines for diagnosis, management and care · Davide Romano · 2025 · 4 citations · Cited by this paper
  29. An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser) · Tatyana A. Vasilyeva · 2023 · 3 citations · Cited by this paper

Source: OpenAlex (CC0)