Research graph
References from One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis. Local targets link to admitted publications; unresolved targets remain external evidence.
Challenges in the Diagnosis of Neurofibromatosis Type 1 (NF1) in Young Children Facilitated by Means of Revised Diagnostic Criteria Including Genetic Testing for Pathogenic NF1 Gene Variants
10.1007/s00439-021-02410-z · 2022 · External reference
Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment
10.1001/archderm.141.1.71 · 2005 · External reference
10.1001/archneur.1988.00520290115023
10.1001/archneur.1988.00520290115023 · External reference
Revised Diagnostic Criteria for Neurofibromatosis Type 1 and Legius Syndrome: An International Consensus Recommendation
10.1038/s41436-021-01170-5 · 2021 · External reference
Haemochromatosis
10.1038/nrdp.2018.16 · 2018 · External reference
Iron Disorders of Genetic Origin: A Changing World
10.1016/j.molmed.2011.07.004 · 2011 · External reference
Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment
10.1053/j.gastro.2010.06.013 · 2010 · External reference
Haemochromatosis
10.1016/s0140-6736(15)01315-x · 2016 · External reference
Aceruloplasminemia
10.1111/neup.12149 · 2015 · External reference
A Novel N491S Mutation in the Human SLC11A2 Gene Impairs Protein Trafficking and in Association with the G212V Mutation Leads to Microcytic Anemia and Liver Iron Overload
10.1016/j.bcmd.2011.07.004 · 2011 · External reference
A New Case of Human Atransferrinemia with a Previously Undescribed Mutation in the Transferrin Gene
10.1159/000112726 · 2007 · External reference
How I Treat Hemochromatosis
10.1182/blood-2010-01-261875 · 2010 · External reference
A Phase 1/2, Dose-Escalation Trial of Deferasirox for the Treatment of Iron Overload in HFE-Related Hereditary Hemochromatosis
10.1002/hep.23879 · 2010 · External reference
Dietary Iron Intake and Serum Ferritin Concentration in 213 Patients Homozygous for the HFEC282Y Hemochromatosis Mutation
10.1155/2012/676824 · 2012 · External reference
Patient and Graft Survival after Liver Transplantation for Hereditary Hemochromatosis: Implications for Pathogenesis
10.1002/hep.20242 · 2004 · External reference
Therapeutic Potential of Hepcidin—The Master Regulator of Iron Metabolism
10.1016/j.phrs.2016.11.010 · 2017 · External reference
Hepcidin: A Promising Therapeutic Target for Iron Disorders. A Systematic Review
10.1097/md.0000000000003150 · 2016 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
Dermatologic Manifestations of Hereditary Hemochromatosis: A Systematic Review
10.1111/jdv.20098 · 2025 · External reference
10.20944/preprints202402.1362.v1
10.20944/preprints202402.1362.v1 · External reference
Cutaneous Expression of Familial Cancer Syndromes
2021 · External reference
10.3390/jcm15020475
10.3390/jcm15020475 · External reference
Hemochromatosis Classification: Update and Recommendations by the BIOIRON Society
10.1182/blood.2021011338 · 2022 · External reference
Diagnosis and Management of Hereditary Hemochromatosis: Lifestyle Modification, Phlebotomy, and Blood Donation
10.1182/hematology.2024000568 · 2024 · External reference
10.3390/cancers17091490
10.3390/cancers17091490 · External reference
Molecular Screening Strategies for NF1-like Syndromes with Café-Au-Lait Macules
10.3892/mmr.2016.5760 · 2016 · External reference
Unraveling Neuronal and Metabolic Alterations in Neurofibromatosis Type 1
10.1186/s11689-024-09565-6 · 2024 · External reference
An Update on the Central Nervous System Manifestations of Neurofibromatosis Type 1
10.1007/s00401-019-02002-2 · 2020 · External reference
10.3390/biomedicines13010146
10.3390/biomedicines13010146 · External reference
10.1186/s12887-021-02791-0
10.1186/s12887-021-02791-0 · External reference
Unresolved reference
External reference
Selumetinib for Children with Neurofibromatosis Type 1 and Plexiform Neurofibromas That Can’t Be Removed by Surgery, and Impact on How the Condition Affects Caregivers: A Plain Language Summary
10.57264/cer-2024-0184 · 2025 · External reference
Unresolved reference
External reference
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Phenotypic Expression of a Spectrum of Neurofibromatosis Type 1 (NF1) Mutations Identified through NGS and MLPA
10.1016/j.jns.2018.10.006 · 2018 · External reference
Gastrointestinal Manifestations of Neurofibromatosis Type 1 (Recklinghausen’s Disease): Clinicopathological Spectrum with Pathogenetic Considerations
2012 · External reference
Spectrum of Gastrointestinal Lesions of Neurofibromatosis Type 1: A Pictorial Review
10.1007/s13244-018-0648-8 · 2018 · External reference
Emerging Genotype–Phenotype Relationships in Patients with Large NF1 Deletions
10.1007/s00439-017-1766-y · 2017 · External reference
RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology
10.2478/jccm-2022-0007 · 2022 · External reference
Haemochromatosis in the New Millennium
10.1016/s0168-8278(00)80415-8 · 2000 · External reference
A Novel MHC Class I-like Gene Is Mutated in Patients with Hereditary Haemochromatosis
10.1038/ng0896-399 · 1996 · External reference
Global Prevalence of Putative Haemochromatosis Mutations
10.1136/jmg.34.4.275 · 1997 · External reference
Genetic Mechanisms and Modifying Factors in Hereditary Hemochromatosis
10.1038/nrgastro.2009.201 · 2010 · External reference
Geography of HFE C282Y and H63D Mutations
10.1089/10906570050114803 · 2000 · External reference
HFE Gene Variants Affect Iron in the Brain1–3
10.3945/jn.110.130351 · 2011 · External reference
Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment
10.1001/archderm.141.1.71 · ExternalCitation · doi-reference
10.1001/archneur.1988.00520290115023
10.1001/archneur.1988.00520290115023 · ExternalCitation · doi-reference
Patient and Graft Survival after Liver Transplantation for Hereditary Hemochromatosis: Implications for Pathogenesis
10.1002/hep.20242 · ExternalCitation · doi-reference
A Phase 1/2, Dose-Escalation Trial of Deferasirox for the Treatment of Iron Overload in HFE-Related Hereditary Hemochromatosis
10.1002/hep.23879 · ExternalCitation · doi-reference
An Update on the Central Nervous System Manifestations of Neurofibromatosis Type 1
10.1007/s00401-019-02002-2 · ExternalCitation · doi-reference
Emerging Genotype–Phenotype Relationships in Patients with Large NF1 Deletions
10.1007/s00439-017-1766-y · ExternalCitation · doi-reference
Challenges in the Diagnosis of Neurofibromatosis Type 1 (NF1) in Young Children Facilitated by Means of Revised Diagnostic Criteria Including Genetic Testing for Pathogenic NF1 Gene Variants
10.1007/s00439-021-02410-z · ExternalCitation · doi-reference
Spectrum of Gastrointestinal Lesions of Neurofibromatosis Type 1: A Pictorial Review
10.1007/s13244-018-0648-8 · ExternalCitation · doi-reference
A Novel N491S Mutation in the Human SLC11A2 Gene Impairs Protein Trafficking and in Association with the G212V Mutation Leads to Microcytic Anemia and Liver Iron Overload
10.1016/j.bcmd.2011.07.004 · ExternalCitation · doi-reference
Phenotypic Expression of a Spectrum of Neurofibromatosis Type 1 (NF1) Mutations Identified through NGS and MLPA
10.1016/j.jns.2018.10.006 · ExternalCitation · doi-reference
Iron Disorders of Genetic Origin: A Changing World
10.1016/j.molmed.2011.07.004 · ExternalCitation · doi-reference
Therapeutic Potential of Hepcidin—The Master Regulator of Iron Metabolism
10.1016/j.phrs.2016.11.010 · ExternalCitation · doi-reference
Haemochromatosis
10.1016/s0140-6736(15)01315-x · ExternalCitation · doi-reference
Haemochromatosis in the New Millennium
10.1016/s0168-8278(00)80415-8 · ExternalCitation · doi-reference
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · ExternalCitation · doi-reference
A Novel MHC Class I-like Gene Is Mutated in Patients with Hereditary Haemochromatosis
10.1038/ng0896-399 · ExternalCitation · doi-reference
Haemochromatosis
10.1038/nrdp.2018.16 · ExternalCitation · doi-reference
Genetic Mechanisms and Modifying Factors in Hereditary Hemochromatosis
10.1038/nrgastro.2009.201 · ExternalCitation · doi-reference
Revised Diagnostic Criteria for Neurofibromatosis Type 1 and Legius Syndrome: An International Consensus Recommendation
10.1038/s41436-021-01170-5 · ExternalCitation · doi-reference
Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment
10.1053/j.gastro.2010.06.013 · ExternalCitation · doi-reference
Geography of HFE C282Y and H63D Mutations
10.1089/10906570050114803 · ExternalCitation · doi-reference
Hepcidin: A Promising Therapeutic Target for Iron Disorders. A Systematic Review
10.1097/md.0000000000003150 · ExternalCitation · doi-reference
Dermatologic Manifestations of Hereditary Hemochromatosis: A Systematic Review
10.1111/jdv.20098 · ExternalCitation · doi-reference
Aceruloplasminemia
10.1111/neup.12149 · ExternalCitation · doi-reference
Global Prevalence of Putative Haemochromatosis Mutations
10.1136/jmg.34.4.275 · ExternalCitation · doi-reference
Dietary Iron Intake and Serum Ferritin Concentration in 213 Patients Homozygous for the HFEC282Y Hemochromatosis Mutation
10.1155/2012/676824 · ExternalCitation · doi-reference
A New Case of Human Atransferrinemia with a Previously Undescribed Mutation in the Transferrin Gene
10.1159/000112726 · ExternalCitation · doi-reference
How I Treat Hemochromatosis
10.1182/blood-2010-01-261875 · ExternalCitation · doi-reference
Hemochromatosis Classification: Update and Recommendations by the BIOIRON Society
10.1182/blood.2021011338 · ExternalCitation · doi-reference
Diagnosis and Management of Hereditary Hemochromatosis: Lifestyle Modification, Phlebotomy, and Blood Donation
10.1182/hematology.2024000568 · ExternalCitation · doi-reference
Unraveling Neuronal and Metabolic Alterations in Neurofibromatosis Type 1
10.1186/s11689-024-09565-6 · ExternalCitation · doi-reference
10.1186/s12887-021-02791-0
10.1186/s12887-021-02791-0 · ExternalCitation · doi-reference
10.20944/preprints202402.1362.v1
10.20944/preprints202402.1362.v1 · ExternalCitation · doi-reference
RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology
10.2478/jccm-2022-0007 · ExternalCitation · doi-reference
10.3390/biomedicines13010146
10.3390/biomedicines13010146 · ExternalCitation · doi-reference
10.3390/cancers17091490
10.3390/cancers17091490 · ExternalCitation · doi-reference
10.3390/jcm15020475
10.3390/jcm15020475 · ExternalCitation · doi-reference
Molecular Screening Strategies for NF1-like Syndromes with Café-Au-Lait Macules
10.3892/mmr.2016.5760 · ExternalCitation · doi-reference
HFE Gene Variants Affect Iron in the Brain1–3
10.3945/jn.110.130351 · ExternalCitation · doi-reference
Selumetinib for Children with Neurofibromatosis Type 1 and Plexiform Neurofibromas That Can’t Be Removed by Surgery, and Impact on How the Condition Affects Caregivers: A Plain Language Summary
10.57264/cer-2024-0184 · ExternalCitation · doi-reference
