Research map: Neurofibromatosis Type 1 in Brazil: Pediatric Care in the Unified Health System

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Papers in this map

  1. Neurofibromatosis type 1 · David H. Gutmann · 2017 · 876 citations · Cited by this paper
  2. Phenotypic discordance in monozygotic twins with a CDH2 variant · 2026 · Related
  3. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation · Eric Legius · 2021 · 834 citations · Cited by this paper
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  5. Neurofibromatosis type 1: a multidisciplinary approach to care · Angela C. Hirbe · 2014 · 624 citations · Cited by this paper
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  9. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation · Scott Randall Plotkin · 2022 · 298 citations · Cited by this paper
  10. Rare features in Feingold syndrome type 1 · 2025 · Related
  11. The Diagnosis and Management of Neurofibromatosis Type 1 · Ina Ly · 2019 · 240 citations · Cited by this paper
  12. Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature · 2026 · Related
  13. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 · Charlotte Carton · 2023 · 140 citations · Cited by this paper
  14. Chromosome heteromorphisms: Critical literature review finds No convincing evidence of harm · 2025 · Related
  15. Patient organization involvement and the challenge of securing access to treatments for rare diseases: report of a policy engagement workshop · Koichi Mikami · 2017 · 42 citations · Cited by this paper
  16. COL12A1-related myopathic Ehlers–Danlos syndrome with Chiari I malformation: A clinical report · 2025 · Related
  17. Generalized pustular psoriasis in Brazil: A public claims database study · Gleison Vieira Duarte · 2022 · 33 citations · Cited by this paper
  18. Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis · 2025 · Related
  19. Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1 · Luiz Guilherme Darrigo · 2022 · 23 citations · Cited by this paper
  20. SPIN4-related X-linked overgrowth in a family · 2026 · Related
  21. A scoping review of the landscape of health-related open datasets in Latin America · David S. Restrepo · 2023 · 17 citations · Cited by this paper
  22. Editorial: The use of real world data for regulatory purposes in the rare diseases setting · Viviana Giannuzzi · 2022 · 13 citations · Cited by this paper
  23. Characteristics, treatment patterns, healthcare resource use, and costs among pediatric patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas: a retrospective database analysis of a medicaid population · Xiaoqin Yang · 2021 · 12 citations · Cited by this paper
  24. Limitações do uso da base de dados DATASUS como fonte primária de dados em pesquisas em cirurgia: uma revisão de escopo · Sofia Wagemaker Viana · 2023 · 8 citations · Cited by this paper
  25. Clinical and molecular characterization of neurofibromatosis in southern Brazil · Clévia Rosset · 2018 · 6 citations · Cited by this paper
  26. Long-term distress throughout one’s life: health-related quality of life, economic and caregiver burden of patients with neurofibromatosis type 1 in China · Wanxian Liang · 2024 · 6 citations · Cited by this paper
  27. Frecuencia de enfermedades huérfanas en Cartagena de Indias, Colombia · Dacia Malambo‐García · 2016 · 5 citations · Cited by this paper
  28. Patient characteristics, treatment patterns, healthcare resource utilization, and costs among patients diagnosed with neurofibromatosis type 1 with and without plexiform neurofibromas in Japan · Yuichi Yoshida · 2024 · 5 citations · Cited by this paper
  29. Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study · Natália Parenti Bicudo · 2024 · 5 citations · Cited by this paper
  30. Economic burden and health-related quality of life in patients with neurofibromatosis type 1 in Greece · Lamprini Sotiropoulou · 2023 · 3 citations · Cited by this paper
  31. Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS · Marina Gabriela da Silva Lins · 2025 · 3 citations · Cited by this paper

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