Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
C Bergqvist, A Servy, L Valeyrie-Allanore… - Orphanet journal of rare …, 2020 - Springer
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging
between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with …
between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with …
[HTML][HTML] The NF1 gene in tumor syndromes and melanoma
M Kiuru, KJ Busam - Laboratory investigation, 2017 - Elsevier
Activation of the RAS/MAPK pathway is critical in melanoma. Melanoma can be grouped into
four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant …
four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant …
Emerging genotype–phenotype relationships in patients with large NF1 deletions
H Kehrer-Sawatzki, VF Mautner, DN Cooper - Human Genetics, 2017 - Springer
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …
Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors
Neurofibromatosis 1 is a hereditary syndrome characterized by the development of
numerous benign neurofibromas, a small subset of which progress to malignant peripheral …
numerous benign neurofibromas, a small subset of which progress to malignant peripheral …
[HTML][HTML] Neurofibromatosis 1
JM Friedman - 2022 - europepmc.org
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
The NF1 gene revisited–from bench to bedside
Neurofibromatosis type 1 (NF1) is a relatively common tumour predisposition syndrome
related to germline aberrations of NF1, a tumour suppressor gene. The gene product …
related to germline aberrations of NF1, a tumour suppressor gene. The gene product …
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience
ABSTRACT Neurofibromatosis type 1 (NF 1) affects about one in 3,500 people in all ethnic
groups. Most NF 1 patients have private loss‐of‐function mutations scattered along the NF 1 …
groups. Most NF 1 patients have private loss‐of‐function mutations scattered along the NF 1 …
Genetic and epigenetic drivers of neuroendocrine tumours (NET)
A Di Domenico, T Wiedmer, I Marinoni… - Endocrine-related …, 2017 - erc.bioscientifica.com
Neuroendocrine tumours (NET) of the gastrointestinal tract and the lung are a rare and
heterogeneous group of tumours. The molecular characterization and the clinical …
heterogeneous group of tumours. The molecular characterization and the clinical …
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
Background Oocyte maturation arrest and early embryonic arrest are important reproductive
phenotypes resulting in female infertility and cause the recurrent failure of assisted …
phenotypes resulting in female infertility and cause the recurrent failure of assisted …
Impacts of NF1 gene mutations and genetic modifiers in neurofibromatosis type 1
W Wang, CJ Wei, XW Cui, YH Li, YH Gu, B Gu… - Frontiers in …, 2021 - frontiersin.org
Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects
more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and …
more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and …