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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 1
1974 1
1975 1
1976 1
1981 2
1982 2
1984 3
1985 2
1987 1
1988 5
1989 4
1990 3
1991 1
1992 5
1993 4
1995 2
1996 3
1997 5
1998 2
1999 2
2000 5
2001 3
2002 4
2003 5
2004 4
2005 4
2006 4
2007 12
2008 8
2009 6
2010 5
2011 6
2012 11
2013 10
2014 4
2015 7
2016 20
2017 11
2018 18
2019 13
2020 22
2021 21
2022 30
2023 24
2024 10

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279 results

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Page 1
The Diagnosis and Management of Neurofibromatosis Type 1.
Ly KI, Blakeley JO. Ly KI, et al. Med Clin North Am. 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. Med Clin North Am. 2019. PMID: 31582003 Review.
Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling. This article summarizes the clinical features, diagnostic work-up, and management of NF1....
Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling. This article summarizes the clinical …
Health Supervision for Children With Neurofibromatosis Type 1.
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Miller DT, et al. Pediatrics. 2019 May;143(5):e20190660. doi: 10.1542/peds.2019-0660. Pediatrics. 2019. PMID: 31010905 Review.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
Neurofibromatosis type 1 (NF1): diagnosis and management.
Ferner RE, Gutmann DH. Ferner RE, et al. Handb Clin Neurol. 2013;115:939-55. doi: 10.1016/B978-0-444-52902-2.00053-9. Handb Clin Neurol. 2013. PMID: 23931823 Review.
Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. ...Advances in molecular biology and mouse models of disease have enhanced our understanding of the pathogenesis of NF1 complications …
Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and …
Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.
Armstrong AE, Belzberg AJ, Crawford JR, Hirbe AC, Wang ZJ. Armstrong AE, et al. BMC Cancer. 2023 Jun 16;23(1):553. doi: 10.1186/s12885-023-10996-y. BMC Cancer. 2023. PMID: 37328781 Free PMC article. Review.
Understanding the genetic underpinnings of PN led to the investigation of targeted therapies as medical treatment options, and the MEK1/2 inhibitor selumetinib has shown promising efficacy in pediatric patients with NF1 and symptomatic, inoperable PN. ...Several other MEK …
Understanding the genetic underpinnings of PN led to the investigation of targeted therapies as medical treatment options, and the ME …
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.
Loss-of-function mutations in the NF1 gene result in truncated and nonfunctional production of neurofibromin, a tumor suppressor protein involved in downregulating the RAS signaling pathway. New therapeutic and preventive options include tyrosine kinase inhibitors, mTOR in …
Loss-of-function mutations in the NF1 gene result in truncated and nonfunctional production of neurofibromin, a tumor suppressor protein inv …
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. ...Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical man …
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. ...Progress …
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Stewart DR, et al. Genet Med. 2018 Jul;20(7):671-682. doi: 10.1038/gim.2018.28. Epub 2018 Apr 26. Genet Med. 2018. PMID: 30006586 Free article.
Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic....
Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care …
279 results