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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.
RASopathies for Radiologists.
Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y. Handa A, et al. Radiographics. 2024 May;44(5):e230153. doi: 10.1148/rg.230153. Radiographics. 2024. PMID: 38602868
RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorde …
RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central co …
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 …
Modeling RASopathies with Genetically Modified Mouse Models.
Hernández-Porras I, Guerra C. Hernández-Porras I, et al. Methods Mol Biol. 2017;1487:379-408. doi: 10.1007/978-1-4939-6424-6_28. Methods Mol Biol. 2017. PMID: 27924582 Review.
The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF …
The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple le …
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 RASopathies: Biology, genetics and therapeutic options.
Longo JF, Carroll SL. Longo JF, et al. Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7. Adv Cancer Res. 2022. PMID: 35101235
As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costel …
As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syn …
Histopathological hallmarks of cutaneous lesions of capillary malformation-arteriovenous malformation syndrome.
Valdivielso-Ramos M, Torrelo A, Martin-Santiago A, Hernández-Nuñez A, Azaña JM, Campos M, Berenguer B, Garnacho G, Moreno R, Colmenero I. Valdivielso-Ramos M, et al. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2428-2435. doi: 10.1111/jdv.16326. Epub 2020 May 19. J Eur Acad Dermatol Venereol. 2020. PMID: 32124491
A deepened knowledge about the nature of these skin lesions will contribute to the better understanding of capillary malformation-arteriovenous malformation syndrome, and will open the possibility of new and more specific treatments in the futur …
A deepened knowledge about the nature of these skin lesions will contribute to the better understanding of capillary malformation …
17 results