Neurofibromatosis Type 1
What's New
Last Posted: Mar 19, 2024
- 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 - 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 - Breast Cancer Screening Utilization and Outcomes in Women With Neurofibromatosis Type 1.
Kevin Yan et al. Clinical breast cancer 2023 - 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 - ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Charlotte Carton et al. EClinicalMedicine 2023 56101818 - Characterization of health concerns in people with neurofibromatosis type 1.
Fleming Jane et al. Molecular genetics & genomic medicine 2022 e2077 - Genetics of Pancreatic Neuroendocrine Tumors.
Mohindroo Chirayu et al. Hematology/oncology clinics of North America 2022 - 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 - MEK Inhibitors for Neurofibromatosis Type 1 Manifestations: Clinical Evidence and Consensus.
de Blank Peter M K et al. Neuro-oncology 2022 - Genetic testing to gain diagnostic clarity in neurofibromatosis type 2 and schwannomatosis.
Burns Rebecca et al. American journal of medical genetics. Part A 2022 - Familial Neoplastic Syndromes.
Eaton Ryan G et al. Neurologic clinics 2022 40(2) 405-420 - 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 - 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 - 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 - 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 - 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 - 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 - Risk Factors for Treatment Refractory and Relapsed Optic Pathway Glioma in Children with Neurofibromatosis Type 1.
Kotch Chelsea et al. Neuro-oncology 2022 - 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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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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