Similar articles for PMID: 20358587

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1

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y. Rauen KA, et al. Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342. Am J Med Genet A. 2010. PMID: 20358587 Free PMC article.

2

Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.

Rauen KA, Maeda Y, Egense A, Tidyman WE. Rauen KA, et al. Am J Med Genet A. 2021 Feb;185(2):469-475. doi: 10.1002/ajmg.a.61995. Epub 2020 Dec 4. Am J Med Genet A. 2021. PMID: 33274568

3

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B. Dentici ML, et al. Eur J Hum Genet. 2009 Jun;17(6):733-40. doi: 10.1038/ejhg.2008.256. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156172 Free PMC article.

4

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. Nowaczyk MJ, et al. Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2. Clin Genet. 2014. PMID: 23379592 Free PMC article.

5

Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Rauen KA. Rodriguez-Viciana P, et al. Methods Enzymol. 2008;438:277-89. doi: 10.1016/S0076-6879(07)38019-1. Methods Enzymol. 2008. PMID: 18413255

6

Mek1^Y130C 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.

7

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC article.

8

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. Rodriguez-Viciana P, et al. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science.1124642. Epub 2006 Jan 26. Science. 2006. PMID: 16439621

9

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2007 Jul 1;143A(13):1472-80. doi: 10.1002/ajmg.a.31815. Am J Med Genet A. 2007. PMID: 17551924

10

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M. Ciara E, et al. Eur J Med Genet. 2015 Jan;58(1):14-20. doi: 10.1016/j.ejmg.2014.11.002. Epub 2014 Nov 11. Eur J Med Genet. 2015. PMID: 25463315

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