A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor
N Ratner, SJ Miller - Nature Reviews Cancer, 2015 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …
[HTML][HTML] Clinical and genetic aspects of neurofibromatosis 1
K Jett, JM Friedman - Genetics in Medicine, 2010 - Elsevier
Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-
lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch …
lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch …
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 …
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
M Koczkowska, Y Chen, T Callens, A Gomes… - The American Journal of …, 2018 - cell.com
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:
2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two …
2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two …
Noonan syndrome and clinically related disorders
M Tartaglia, BD Gelb, M Zenker - Best practice & research Clinical …, 2011 - Elsevier
Noonan syndrome is a relatively common, clinically variable developmental disorder.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism …
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism …
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for …
H Kehrer-Sawatzki, DN Cooper - Human genetics, 2022 - Springer
Abstract Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with
multiple café-au-lait macules (CALM) which may either be present at birth or appear during …
multiple café-au-lait macules (CALM) which may either be present at birth or appear during …
International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis
RE Ferner, DH Gutmann - 2002 - AACR
Abstract Neurofibromatosis 1 (NF1) is an autosomal dominant tumor predisposition
syndrome in which affected individuals have a greatly increased risk of developing …
syndrome in which affected individuals have a greatly increased risk of developing …
Epidemiology of neurofibromatosis type 1
JM Friedman - American journal of medical genetics, 1999 - Wiley Online Library
The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known
ethnic groups in which NF1 does not occur or is unusually common. The prevalence is …
ethnic groups in which NF1 does not occur or is unusually common. The prevalence is …
NF1 Gene and Neurofibromatosis 1
SA Rasmussen, JM Friedman - American journal of …, 2000 - academic.oup.com
Abstract Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an
autosomal dominant condition caused by mutations of the NF1 gene, which is located at …
autosomal dominant condition caused by mutations of the NF1 gene, which is located at …
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically significant …
M Upadhyaya, SM Huson, M Davies, N Thomas… - The American Journal of …, 2007 - cell.com
Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and
cutaneous neurofibromas. No obvious relationships between small mutations (< 20 bp) of …
cutaneous neurofibromas. No obvious relationships between small mutations (< 20 bp) of …