...NF1 patients have private loss-of-function mutations scattered along the NF1 gene. Here, we present an original NF1 inve...
...NF1) and large deletions of the NF1 gene region. The study participants were 16 patients with large NF1 deletions and 16...
...NF1) exhibit large deletions of the NF1 gene region. To date, only nine unrelated cases of large NF1 duplications have b...
...NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 a...
...NF1) is a single-gene disorder affecting neurologic function in humans. The NF1+/- mouse model with germline mutation of...
...NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family hi...
...NF1 severity/visibility and QoL were explored. Thirty-eight pediatric NF1 patients and their parents were enrolled. QoL ...
...NF1. We conducted a retrospective study of patients with isolated CALMs. Diagnosis of NF1 was based on detecting NF1 mut...
...NF1 mutations. NF1-mutated patients belonged more often to the adverse European LeukemiaNet (ELN) risk category than NF1...
...NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patien...
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