Similar articles for PMID: 16439621

Year	Number of Results
1991	1
1993	2
1997	3
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2000	1
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2002	3
2004	2
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2006	13
2007	23
2008	18
2009	10
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2014	10
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2017	5
2018	9
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2021	6
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2024	0

1

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

2

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

3

Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

Senawong T, Phuchareon J, Ohara O, McCormick F, Rauen KA, Tetsu O. Senawong T, et al. Hum Mol Genet. 2008 Feb 1;17(3):419-30. doi: 10.1093/hmg/ddm319. Epub 2007 Nov 2. Hum Mol Genet. 2008. PMID: 17981815

4

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.

5

Neurological complications of cardio-facio-cutaneous syndrome.

Yoon G, Rosenberg J, Blaser S, Rauen KA. Yoon G, et al. Dev Med Child Neurol. 2007 Dec;49(12):894-9. doi: 10.1111/j.1469-8749.2007.00894.x. Dev Med Child Neurol. 2007. PMID: 18039235 Free article.

6

BRAF and MEK mutations make a late entrance.

Duesbery N, Vande Woude G. Duesbery N, et al. Sci STKE. 2006 Mar 28;2006(328):pe15. doi: 10.1126/stke.3282006pe15. Sci STKE. 2006. PMID: 16569817

7

Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.

Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y. Makita Y, et al. J Pediatr Hematol Oncol. 2007 May;29(5):287-90. doi: 10.1097/MPH.0b013e3180547136. J Pediatr Hematol Oncol. 2007. PMID: 17483702 Free article.

8

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

9

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

10

Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.

Demir E, Mancano G, Pomponi MG, Ozcelik A, Gucuyener K, Neri G. Demir E, et al. Neuropediatrics. 2010 Jun;41(3):127-31. doi: 10.1055/s-0030-1262840. Epub 2010 Sep 21. Neuropediatrics. 2010. PMID: 20859831

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