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Quoted phrase not found in phrase index: "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"
Page 1
Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.
Tamura R. Tamura R. Int J Mol Sci. 2021 May 29;22(11):5850. doi: 10.3390/ijms22115850. Int J Mol Sci. 2021. PMID: 34072574 Free PMC article. Review.
The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as a negative regulator of Ras/MAPK and PI3K/mTOR signaling pathways. ...This study discusses molecular pathways and related targeted therapies …
The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as …
Neurofibromatosis type 1.
Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Gutmann DH, et al. Nat Rev Dis Primers. 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. Nat Rev Dis Primers. 2017. PMID: 28230061 Review.
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (cafe-a …
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 …
Neurofibromatosis type 1: New developments in genetics and treatment.
Wilson BN, John AM, Handler MZ, Schwartz RA. Wilson BN, et al. J Am Acad Dermatol. 2021 Jun;84(6):1667-1676. doi: 10.1016/j.jaad.2020.07.105. Epub 2020 Aug 6. J Am Acad Dermatol. 2021. PMID: 32771543 Review.
Neurofibromatosis type 1 is the most common neurocutaneous syndrome, with a frequency of 1 in 2500 persons. ...We also propose modified diagnostic criteria and provide an algorithm for surveillance of patients with neurofibromatosis type 1 …
Neurofibromatosis type 1 is the most common neurocutaneous syndrome, with a frequency of 1 in 2500 persons. ...We also …
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P. Sabbagh A, et al. Hum Mutat. 2013 Nov;34(11):1510-8. doi: 10.1002/humu.22392. Epub 2013 Aug 26. Hum Mutat. 2013. PMID: 23913538
Neurofibromatosis type 1 (NF1) affects about one in 3,500 people in all ethnic groups. Most NF1 patients have private loss-of-function mutations scattered along the NF1 gene. ...
Neurofibromatosis type 1 (NF1) affects about one in 3,500 people in all ethnic groups. Most NF1 patients …
Neurofibromatosis type 1 system-based manifestations and treatments: a review.
Saleh M, Dib A, Beaini S, Saad C, Faraj S, El Joueid Y, Kotob Y, Saoudi L, Emmanuel N. Saleh M, et al. Neurol Sci. 2023 Jun;44(6):1931-1947. doi: 10.1007/s10072-023-06680-5. Epub 2023 Feb 24. Neurol Sci. 2023. PMID: 36826455 Review.
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation in the NF1 gene. ...NF1 is associated with an increased risk of malignancy and a significant decrease in life expectancy. ...
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation in the NF1 …
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. Ferner RE, et al. J Med Genet. 2007 Feb;44(2):81-8. doi: 10.1136/jmg.2006.045906. Epub 2006 Nov 14. J Med Genet. 2007. PMID: 17105749 Free PMC article. Review.
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. ...Members of the United Kingdom Neurofibromatosis Association Clinical Advisory Board collaborated to produce a consensus statement on the curre …
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. ...Me …
The NF1 somatic mutational landscape in sporadic human cancers.
Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M. Philpott C, et al. Hum Genomics. 2017 Jun 21;11(1):13. doi: 10.1186/s40246-017-0109-3. Hum Genomics. 2017. PMID: 28637487 Free PMC article. Review.
BACKGROUND: Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. ...Other curiosities are observed, such as a high rate of somatic NF1 mutation …
BACKGROUND: Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal d …
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ. Nix JS, et al. Acta Neuropathol. 2020 Apr;139(4):625-641. doi: 10.1007/s00401-019-02002-2. Epub 2019 Apr 8. Acta Neuropathol. 2020. PMID: 30963251 Free PMC article. Review.
Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the …
Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result …
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
Kehrer-Sawatzki H, Cooper DN. Kehrer-Sawatzki H, et al. Hum Genet. 2022 Feb;141(2):177-191. doi: 10.1007/s00439-021-02410-z. Epub 2021 Dec 20. Hum Genet. 2022. PMID: 34928431 Free PMC article. Review.
Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple cafe-au-lait macules (CALM) which may either be present at birth or appear during the first year of life. ...In this review, we outline the challenges faced in diagno …
Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with multiple cafe-au-lait macules (CALM …
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. ...The causative variant was identified in 239 out of the 281 patients analyzed …
Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1 …
1,131 results