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Quoted phrase not found in phrase index: "Cardiofaciocutaneous syndrome 1"
Page 1
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.
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and …
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. The …
Bone health in RASopathies.
Stevenson DA, Viscogliosi G, Leoni C. Stevenson DA, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):459-470. doi: 10.1002/ajmg.c.32020. Epub 2022 Dec 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 36461161 Review.
The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan syndro …
The RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlappin …
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 are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndr …
RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regula …
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 …
Malignancy in Noonan syndrome and related disorders.
Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Smpokou P, et al. Clin Genet. 2015 Dec;88(6):516-22. doi: 10.1111/cge.12568. Epub 2015 Mar 4. Clin Genet. 2015. PMID: 25683281 Review.
Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with variable clinical and …
Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous …
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
Dunnett-Kane V, Burkitt-Wright E, Blackhall FH, Malliri A, Evans DG, Lindsay CR. Dunnett-Kane V, et al. Ann Oncol. 2020 Jul;31(7):873-883. doi: 10.1016/j.annonc.2020.03.291. Epub 2020 Mar 30. Ann Oncol. 2020. PMID: 32240795 Free PMC article. Review.
Somatic mutations in RAS and related pathway genes such as NF1 have been strongly implicated in the development of cancer while also being implicated in a diverse group of developmental disorders named the 'RASopathies', including neurofibromatosis type 1 (NF1), Noonan syn …
Somatic mutations in RAS and related pathway genes such as NF1 have been strongly implicated in the development of cancer while also being i …
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS, Perla S, Bennett AM. Yi JS, et al. Cardiovasc Drugs Ther. 2023 Dec;37(6):1193-1204. doi: 10.1007/s10557-022-07324-0. Epub 2022 Feb 14. Cardiovasc Drugs Ther. 2023. PMID: 35156148 Review.
The RASopathies include Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous syndrome, neurofibromatosis type 1, and Costello syndrome. ...
The RASopathies include Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous syndrome, neurofibroma …
Social behavior in RASopathies and idiopathic autism.
Foy AMH, Hudock RL, Shanley R, Pierpont EI. Foy AMH, et al. J Neurodev Disord. 2022 Jan 12;14(1):5. doi: 10.1186/s11689-021-09414-w. J Neurodev Disord. 2022. PMID: 35021989 Free PMC article.
BACKGROUND: RASopathies are genetic syndromes that result from pathogenic variants in the RAS-MAPK cellular signaling pathway. These syndromes, which include neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, and Costello syndrome, are …
BACKGROUND: RASopathies are genetic syndromes that result from pathogenic variants in the RAS-MAPK cellular signaling pathway. These syndrom …
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.
Johnson B, Goldberg-Strassler D, Gripp K, Thacker M, Leoni C, Stevenson D. Johnson B, et al. Am J Med Genet A. 2015 Jan;167A(1):40-4. doi: 10.1002/ajmg.a.36828. Epub 2014 Oct 24. Am J Med Genet A. 2015. PMID: 25346259
Our hypothesis was that there was function and disability differences between Costello syndrome (CS) and Cardiofaciocutaneous syndrome (CFCS). The purpose of this study was to describe and compare the functional performance and level of disability of children with C …
Our hypothesis was that there was function and disability differences between Costello syndrome (CS) and Cardiofaciocutaneous synd …
47 results