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Cutaneous Findings in Neurofibromatosis Type 1

Cancers, 2021-01, Vol.13 (3), p.463

2021

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Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations

Cancers, 2023-02, Vol.15 (4), p.1217

2023

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Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia

International journal of molecular sciences, 2020-12, Vol.22 (1), p.97

2020

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Polysomnographic study in pediatric neurofibromatosis type 1

Frontiers in neurology, 2023-07, Vol.14, p.1213430-1213430

2023

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Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

PloS one, 2018-07, Vol.13 (7), p.e0200446-e0200446

2018

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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

International journal of molecular sciences, 2022-08, Vol.23 (16), p.8952

2022

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Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Cancers, 2021-04, Vol.13 (8), p.1831

2021

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Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

Medicina (Kaunas, Lithuania), 2020-08, Vol.56 (9), p.419

2020

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

Cancers, 2022-12, Vol.15 (1), p.59

2022

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Oral Clinical Manifestations of Neurofibromatosis Type 1 in Children and Adolescents

Applied sciences, 2020-07, Vol.10 (14), p.4687

2020

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Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility

Children (Basel), 2024-08, Vol.11 (8), p.1033

2024

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

Genes, 2022-06, Vol.13 (7), p.1130

2022

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A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

BMC neurology, 2020-09, Vol.20 (1), p.327-6, Article 327

2020

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Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

BMC pediatrics, 2018-02, Vol.18 (1), p.91-91, Article 91

2018

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Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.1-349, Article 349

2021

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Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Genes, 2019-07, Vol.10 (8), p.580

2019

Volltextzugriff (PDF)

Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1521-1530

2017

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Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review

Children (Basel), 2022-01, Vol.9 (1), p.22

2022

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Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior

Children (Basel), 2023-02, Vol.10 (2), p.330

2023

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Natural History of Scoliosis in Children with NF1: An Observation Study

Healthcare (Basel), 2021-07, Vol.9 (7), p.881

2021

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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian journal of pediatrics, 2018-03, Vol.44 (1), p.41-41, Article 41

2018

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Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1

Cancers, 2020-05, Vol.12 (6), p.1426

2020

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Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study

Diagnostics (Basel), 2022-03, Vol.12 (3), p.664

2022

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Do proton pump inhibitors reduce gastrointestinal complication when starting long-term non-steroidal anti-inflammatory drugs therapy?

Archives of disease in childhood, 2024-02, Vol.109 (2), p.167

2024

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Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

Frontiers in medicine, 2021-06, Vol.8

2021

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Cutaneous Findings in Neurofibromatosis Type 1

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations

Effects of Eltrombopag on In Vitro Macrophage Polarization in Pediatric Immune Thrombocytopenia

Polysomnographic study in pediatric neurofibromatosis type 1

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

Oral Clinical Manifestations of Neurofibromatosis Type 1 in Children and Adolescents

Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience

Aripiprazole-Induced Oculogyric Crisis: A Pediatric Case Series and A Brief Narrative Review

Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior

Natural History of Scoliosis in Children with NF1: An Observation Study

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1

Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study

Do proton pump inhibitors reduce gastrointestinal complication when starting long-term non-steroidal anti-inflammatory drugs therapy?

Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

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