Neurofibromatosis
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 - 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 - 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 - 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 - Breast Cancer Screening Utilization and Outcomes in Women With Neurofibromatosis Type 1.
Kevin Yan et al. Clinical breast cancer 2023 - 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 - 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 - 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 - ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Charlotte Carton et al. EClinicalMedicine 2023 56101818 - 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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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
- Page last updated:Apr 19, 2024
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