Results 1 to 10 of about 12,566 (189)
The Perceived Influence of Neurofibromatosis Type 1(NF1) on the Parents' Relationship. [PDF]
Children (Basel), 2023 Neurofibromatosis type 1 (NF1) is a genetic condition affecting 1 in 3000 individuals. Having a child with a chronic illness can introduce both practical and emotional challenges to a parental relationship. This cross-sectional study was administered to 50 parents of children with NF1, diagnosed between the ages of 1–24. Each participant was provided a
Wiener L +5 more
europepmc +4 more sources
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1) [PDF]
Human Mutation, 2011 Mosaicism is an important feature of type-1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using FISH and MLPA to screen 3500 NF1 patients, we identified 146 individuals harboring gross NF1 deletions, 14 of whom (9.6%) displayed somatic mosaicism. The high rate of mosaicism in patients with NF1
Ludwine Messiaen +2 more
exaly +4 more sources
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype [PDF]
Human Mutation, 2010 In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 ...
Bertrand Isidor +2 more
exaly +3 more sources
Human stem cell modeling in neurofibromatosis type 1 (NF1). [PDF]
Exp Neurol, 2018 The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition.
Wegscheid ML, Anastasaki C, Gutmann DH.
europepmc +4 more sources
Neurofibromatosis type 1 associated with coarctation of the abdominal aorta
Dermatology Reports, 2021 Neurofibromatosis type 1 (NF1) is one of the most autosomal dominant genetic disorders. NF1 vasculopathy is a rare complication of NF1 with prevalence up to 6% including aneurysms, arterial stenosis, aorta coarctation and arteriovenous malformations [...]
Reema Al Essa, Mohammed Al Jasser
doaj +1 more source
The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]
مجله دانشگاه علوم پزشکی گرگان, 2023 Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj
Molecular Genetics & Genomic Medicine, 2021 Background Neurofibromatosis type 1 is an autosomal dominant inherited disease and caused by NF1 gene mutation. Its clinical manifestations include multiple cafe´‐au lait (CAL) spots, skinfold freckling, neurofibroma, bone dysplasia, learning ...
Tingting Zhang +4 more
doaj +1 more source
Biomarker Research, 2021 MAP/ERK kinase 1 and 2 (MEK 1/2) inhibitors (MEKi) are investigated in several trials to treat lesions that arise from pathogenic variants of the Neurofibromatosis type 1 and type 2 genes (NF1, NF2).
Anja Harder
doaj +1 more source
Journal of Medical Case Reports, 2022 Background Neurofibromatosis type 1 is an inherited cancer predisposition syndrome that is caused by a mutation in the NF1 gene that encodes neurofibromin. Patients with neurofibromatosis type 1 have a higher risk of gastrointestinal stromal tumor.
B. G. Bharath +3 more
doaj +1 more source
Neurofibromatosis type 1 (NF1) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Other names: Von Recklinghausen neurofibromatosis; Peripheral neurofibromatosis Inheritance: autosomal dominant with almost complete penetrance; frequency is 30/10 newborns (and 1 of 200 mentally handicapped persons): one of the most frequent genetically inheritable disease; neomutation in 50%, mostly from the paternal allele; highly variable ...
openaire +2 more sources