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Page 1
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. ...
These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformatio
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC. Palit A, et al. Indian J Dermatol Venereol Leprol. 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. Indian J Dermatol Venereol Leprol. 2022. PMID: 35138057 Free article. Review.
Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the we …
Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Cos …
Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
Brix ATH, Tørring PM, Bygum A. Brix ATH, et al. Acta Derm Venereol. 2022 Mar 8;102:adv00662. doi: 10.2340/actadv.v102.1126. Acta Derm Venereol. 2022. PMID: 35088870 Free PMC article. Review.
Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow malformations. ...(Ala742Pro)). A review of the literature retrieved 127 patients with
Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capill
The genetics of vascular birthmarks.
Mahajan P, Bergstrom KL, Phung TL, Metry DW. Mahajan P, et al. Clin Dermatol. 2022 Jul-Aug;40(4):313-321. doi: 10.1016/j.clindermatol.2022.02.006. Epub 2022 Feb 16. Clin Dermatol. 2022. PMID: 35181412 Review.
Variants in GNAQ and GNA11 have been identified in both so-called "congenital" hemangiomas and capillary malformations. RASA1 and EPHB4 variants are associated with capillary malformation-arteriovenous malformation syndrome. This review discusse …
Variants in GNAQ and GNA11 have been identified in both so-called "congenital" hemangiomas and capillary malformations. RASA1 and EPHB4 vari …
Multifocal vascular lesions.
Levin LE, Lauren CT. Levin LE, et al. Semin Cutan Med Surg. 2016 Sep;35(3):153-60. doi: 10.12788/j.sder.2016.054. Semin Cutan Med Surg. 2016. PMID: 27607324 Review.
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.
Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA. Orme CM, et al. Pediatr Dermatol. 2013 Jul-Aug;30(4):409-15. doi: 10.1111/pde.12112. Epub 2013 May 13. Pediatr Dermatol. 2013. PMID: 23662773 Review.
Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformat
Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mu
A review of craniofacial and dental findings of the RASopathies.
Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S. Cao H, et al. Orthod Craniofac Res. 2017 Jun;20 Suppl 1(Suppl 1):32-38. doi: 10.1111/ocr.12144. Orthod Craniofac Res. 2017. PMID: 28643916 Free PMC article. Review.
These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and …
These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 …
Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. J Hum Genet. 2016. PMID: 26446362 Review.
These disorders include neurofibromatosis type I, Legius syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome), Costello syndrome, cardiofaciocutaneous (CFC) syndrome, Noonan-like syndrome, hereditary gingival fibromatosis and c
These disorders include neurofibromatosis type I, Legius syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines (formerly calle …
RhoA activation-mediated vascular permeability in capillary malformation-arteriovenous malformation syndrome: a hypothesis.
Eisa-Beygi S, Vo NJ, Link BA. Eisa-Beygi S, et al. Drug Discov Today. 2021 Aug;26(8):1790-1793. doi: 10.1016/j.drudis.2020.12.012. Epub 2020 Dec 24. Drug Discov Today. 2021. PMID: 33358701 Review.
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a class of capillary anomalies that are associated with arteriovenous malformations and arteriovenous fistulas, which carry a risk of hemorrhages. ...
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a class of capillary anomalies that are a
29 results