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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: May 02, 2024
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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 et al. An Bras Dermatol 2024
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Effect of Mind-Body Skills Training on Quality of Life for Geographically Diverse Adults With Neurofibromatosis: A Fully Remote Randomized Clinical Trial.
Ana-Maria Vranceanu et al. JAMA Netw Open 2023 6(6) e2320599
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Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
Mehmet Kocabey et al. Int J Dev Neurosci 2023
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Early-onset grade 2-3 diffuse gliomas and schwannomas increase the risk of central nervous system tumors among the patients' relatives.
Eljas Alanen et al. Neuro-oncology advances 2023 5(1) vdad008
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Breast Cancer Screening Utilization and Outcomes in Women With Neurofibromatosis Type 1.
Kevin Yan et al. Clinical breast cancer 2023
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Using comprehensive genomic and functional analyses for resolving genotype-phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.
Dima Hamideh et al. Human genetics 2023
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Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Jette J Bakhuizen et al. JAMA network open 2023 6(2) e2254157
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Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.
Melissa A LoPresti et al. Journal of neurosurgery. Pediatrics 2023 1-9
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ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Charlotte Carton et al. EClinicalMedicine 2023 56101818
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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra Rosina et al. Cancers 2023 15(1)
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Characterization of health concerns in people with neurofibromatosis type 1.
Fleming Jane et al. Molecular genetics & genomic medicine 2022 e2077
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Genetics of Pancreatic Neuroendocrine Tumors.
Mohindroo Chirayu et al. Hematology/oncology clinics of North America 2022
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Neurofibromatosis Type 1 and Risk of Skin Cancer
J Trinh et al, JAMA Dermatology, August 24, 2022
Perspectives on adapting a mobile application for pain self-management in neurofibromatosis type 1: results of online focus group discussions with individuals living with neurofibromatosis type 1 and pain management experts.
Grau Lauretta E et al. BMJ open 2022 12(7) e056692
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MEK Inhibitors for Neurofibromatosis Type 1 Manifestations: Clinical Evidence and Consensus.
de Blank Peter M K et al. Neuro-oncology 2022
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Genetic testing to gain diagnostic clarity in neurofibromatosis type 2 and schwannomatosis.
Burns Rebecca et al. American journal of medical genetics. Part A 2022
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Familial Neoplastic Syndromes.
Eaton Ryan G et al. Neurologic clinics 2022 40(2) 405-420
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The utility of early brain MRI for patients with neurofibromatosis type 1 and optic pathway glioma: A long-term follow-up in a tertiary referral hospital.
Cohen Rony et al. Neuropediatrics 2022
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COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis
J Banerjee et al, MEDRXIV, April 1, 2022
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
Hol Janna A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2102510
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Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.
Albaghdadi Mohammed et al. Pediatric dermatology 2022
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Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists.
Merker Vanessa L et al. Orphanet journal of rare diseases 2022 17(1) 44
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Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia Belen et al. Journal of medical genetics 2022
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Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Kang Eungu et al. Orphanet journal of rare diseases 2022 17(1) 24
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Innovation in the treatment of persistent pain in adults with Neurofibromatosis Type 1 (NF1): Implementation of the iCanCope mobile application.
Buono Frank D et al. Contemporary clinical trials communications 2022 25100883
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Risk Factors for Treatment Refractory and Relapsed Optic Pathway Glioma in Children with Neurofibromatosis Type 1.
Kotch Chelsea et al. Neuro-oncology 2022
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Development and Preliminary Evaluation of a Quality-of-Life Questionnaire for Adults with Neurofibromatosis Type 1 (NF1-AdQOL).
Crawford H et al. Clinical and experimental dermatology 2021
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Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.
Pinti Eva et al. BMC pediatrics 2021 21(1) 331
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Increased risk for dementia in neurofibromatosis type 1
RA Kalionpaa et al, Genetics in Medicine, July 13, 2021
Predictors of cognitive, behavioural and academic difficulties in NF1.
Geoffray Marie-Maude et al. Journal of psychiatric research 2021 140545-550
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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