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Legius Syndrome.
Legius E, Stevenson D. Legius E, et al. 2010 Oct 14 [updated 2020 Aug 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Oct 14 [updated 2020 Aug 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20945555 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Legius syndrome is characterized by multiple cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). ...Each child of an individual with Legius syndrome has a 50% chance of i …
CLINICAL CHARACTERISTICS: Legius syndrome is characterized by multiple cafe au lait macules without neurofibromas or other tum …
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.
PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We used a multistep …
PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria fo …
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 differential molecular diagnosis of these pathologies is a challenge that can now be met b …
Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius synd
The RASopathies: from pathogenetics to therapeutics.
Hebron KE, Hernandez ER, Yohe ME. Hebron KE, et al. Dis Model Mech. 2022 Feb 1;15(2):dmm049107. doi: 10.1242/dmm.049107. Epub 2022 Feb 18. Dis Model Mech. 2022. PMID: 35178568 Free PMC article. Review.
These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome, among others, have overlapping clinical features due to RAS/MAPK dysfunction. ...
These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H, Legius E. Brems H, et al. Keio J Med. 2013;62(4):107-12. doi: 10.2302/kjm.2013-0002-re. Epub 2013 Dec 10. Keio J Med. 2013. PMID: 24334617 Free article. Review.
In 2007 we reported that some individuals with multiple CALMs have a heterozygous mutation in the SPRED1 gene and have NF1-like syndrome, or Legius syndrome. Individuals with Legius syndrome have multiple CALMs with or without freckling, but they do no …
In 2007 we reported that some individuals with multiple CALMs have a heterozygous mutation in the SPRED1 gene and have NF1-like syndrome, or …
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. Because of the common un …
These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriov …
Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
Denayer E, Legius E. Denayer E, et al. Acta Derm Venereol. 2020 Mar 25;100(7):adv00093. doi: 10.2340/00015555-3429. Acta Derm Venereol. 2020. PMID: 32147744 Free PMC article.
Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multi …
Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign o …
Legius syndrome: case report and review of literature.
Benelli E, Bruno I, Belcaro C, Ventura A, Berti I. Benelli E, et al. Ital J Pediatr. 2015 Feb 8;41:8. doi: 10.1186/s13052-015-0115-9. Ital J Pediatr. 2015. PMID: 25883013 Free PMC article. Review.
The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome, a dominant disease characterized by a mild neurofibromatosis 1 phenotype. ...Here, we discuss the differential diagnosis of cafe-au-lait …
The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome
Legius syndrome: A case report.
Kimura R, Yoshida Y, Maruoka R, Kosaki K, Yamamoto O. Kimura R, et al. J Dermatol. 2017 Apr;44(4):459-460. doi: 10.1111/1346-8138.13687. Epub 2016 Nov 5. J Dermatol. 2017. PMID: 28378438
Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss-of-function SPRED1 mutation. In Japan, a family with Legius syndrome was first described in 2015 by Sakai et al. We described a first solitary case of Legius syn
Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss-of-function SPRED1 mutation. In Japan, a fami
Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.
Paixao F, Ribeiro L, Costa A, Torre M, Ventura A. Paixao F, et al. Cureus. 2023 Oct 3;15(10):e46394. doi: 10.7759/cureus.46394. eCollection 2023 Oct. Cureus. 2023. PMID: 37927732 Free PMC article.
Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). ...
Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). ...
117 results