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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.
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndr …
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or …
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.
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello …
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibroma …
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 discusses the g …
Variants in GNAQ and GNA11 have been identified in both so-called "congenital" hemangiomas and capillary malformations. RASA1 and EPHB4 vari …
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 capi …
Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary mal …
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 malformations. . …
Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations …
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 …
Management of arteriovenous malformations.
Greene AK, Orbach DB. Greene AK, et al. Clin Plast Surg. 2011 Jan;38(1):95-106. doi: 10.1016/j.cps.2010.08.005. Clin Plast Surg. 2011. PMID: 21095475 Review.
This article describes the clinical features, diagnosis, and management of arteriovenous malformation, capillary malformation-arteriovenous malformation, and PTEN-associated vascular anomaly....
This article describes the clinical features, diagnosis, and management of arteriovenous malformation, capillary malformation- …
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 s …
These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type …
17 results