Results 51 to 60 of about 1,786 (148)
Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.Abstract Neurofibromatosis type 1 (NF1) is a genetic condition that affects about 1 in 3000 individuals. Approximately 50% of individuals with NF1 have a family history of the condition. Individuals with NF1 experience variable symptoms that contribute to increased stress.
Mikaela Bradley +5 more
wiley +1 more source
Revista de Ciencias Médicas de Pinar del Río, 2012 La neurofibromatosis tipo 1 es la enfermedad monogénica más frecuente en la especie humana. En su clasificación se describe la variante segmentaria como forma clínica especial, poco frecuente, caracterizada por máculas "café con leche" o neurofibromas ...
Miladys Orraca Castillo +1 more
doaj
CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]
, 2018 Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core +1 more source
Malignant peripheral nerve sheath tumor of the breast: case report [PDF]
, 2007 Background Malignant peripheral nerve sheath tumor is a rare soft tissue sarcoma of ectomesenchymal origin. It is the malignant counterpart of benign soft tissue tumors like neurofibromas and schwannomas and may often follow them.
Kajal Kiran Dhingra +15 more
core +2 more sources
The Interconnected World of Dermatology and Ophthalmology
JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore +4 more
wiley +1 more source
Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]
, 2019 We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C +6 more
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Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review
Neurology and Clinical Neuroscience, Volume 13, Issue 3, Page 165-173, May 2025.ABSTRACT A class of hereditary diseases known as neurofibromatoses results in tumor growth on tissue from nerves. The spinal cord, nerves, and brain are among the parts of the nervous framework where these tumors can form. Similar to other genetic disorders, neurofibromatosis discloses complicated phenotypes, exhibiting varying benign and malignant ...
Hina Aslam +11 more
wiley +1 more source
Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]
, 2016 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that is caused through loss of function mutations of a tumour suppressor gene called Neurofibromin 1.
Rad, Ellie, Tee, Andrew
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KNOWLEDGE AND SELF-ESTEEM IN INDIVIDUALS WITH NEUROFIBROMATOSIS TYPE 1 (NF1) [PDF]
, 2015 Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized mainly by café-au-lait macules, Lisch nodules, as well as cutaneous and subcutaneous neurofibromas among other traits.
Vaughn, Kayla
core
Malignancy Spectrum, Volume 2, Issue 3, Page 171-172, September 2025.
Memuna J. Zeb
wiley +1 more source