Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2013 5
2014 7
2015 4
2016 5
2017 1
2018 4
2019 2
2020 2
2021 2
2022 1
Text availability
Article attribute
Article type
Publication date

Search Results

27 results
Results by year
Filters applied: . Clear all
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.
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Pierpont ME, et al. Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Pediatrics. 2014. PMID: 25180280 Free PMC article. Review.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Piotrowski A, et al. Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362817 Free PMC article.
Juvenile xanthogranuloma in Noonan syndrome.
Ali MM, Gilliam AE, Ruben BS, Tidyman WE, Rauen KA. Ali MM, et al. Am J Med Genet A. 2021 Oct;185(10):3048-3052. doi: 10.1002/ajmg.a.62353. Epub 2021 May 25. Am J Med Genet A. 2021. PMID: 34032360
Expansion of the RASopathies.
Tidyman WE, Rauen KA. Tidyman WE, et al. Curr Genet Med Rep. 2016 Sep;4(3):57-64. doi: 10.1007/s40142-016-0100-7. Epub 2016 Jul 1. Curr Genet Med Rep. 2016. PMID: 27942422 Free PMC article.
Pathogenetics of the RASopathies.
Tidyman WE, Rauen KA. Tidyman WE, et al. Hum Mol Genet. 2016 Oct 1;25(R2):R123-R132. doi: 10.1093/hmg/ddw191. Epub 2016 Jul 12. Hum Mol Genet. 2016. PMID: 27412009 Free PMC article.
RASopathies are associated with a distinct personality profile.
Bizaoui V, Gage J, Brar R, Rauen KA, Weiss LA. Bizaoui V, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):434-446. doi: 10.1002/ajmg.b.32632. Epub 2018 Apr 16. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29659143 Free PMC article.
Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.
Aoidi R, Houde N, Landry-Truchon K, Holter M, Jacquet K, Charron L, Krishnaswami SR, Yu BD, Rauen KA, Bisson N, Newbern J, Charron J. Aoidi R, et al. Dis Model Mech. 2018 Mar 13;11(3):dmm031278. doi: 10.1242/dmm.031278. Dis Model Mech. 2018. PMID: 29590634 Free PMC article.
27 results