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Items: 1 to 20 of 125

1.

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.

Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB.

Clin Genet. 2011 May;79(5):468-74. doi: 10.1111/j.1399-0004.2010.01495.x.

PMID:
20735442
2.

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.

Am J Med Genet A. 2007 Jul 1;143A(13):1472-80.

PMID:
17551924
3.

A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.

Sekiguchi K, Maeda T, Suenobu S, Kunisaki N, Shimizu M, Kiyota K, Handa YS, Akiyoshi K, Korematsu S, Aoki Y, Matsubara Y, Izumi T.

Am J Med Genet A. 2013 Oct;161A(10):2600-3. doi: 10.1002/ajmg.a.36107. Epub 2013 Aug 15.

PMID:
23950000
4.

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.

J Pediatr Hematol Oncol. 2007 May;29(5):287-90.

PMID:
17483702
5.

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.

Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y.

Hum Mol Genet. 2014 Dec 15;23(24):6553-66. doi: 10.1093/hmg/ddu376. Epub 2014 Jul 17.

PMID:
25035421
6.

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.

Eur J Med Genet. 2015 Jan;58(1):14-20. doi: 10.1016/j.ejmg.2014.11.002. Epub 2014 Nov 11.

PMID:
25463315
7.

Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.

Tidyman WE, Rauen KA.

Methods Mol Biol. 2010;661:433-47. doi: 10.1007/978-1-60761-795-2_27.

PMID:
20812000
8.

A cardio-facio-cutaneous syndrome case with tight Achilles tendons.

Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F.

Genet Couns. 2012;23(2):305-11.

PMID:
22876591
9.

Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.

Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y.

J Pediatr Hematol Oncol. 2011 Dec;33(8):e342-6. doi: 10.1097/MPH.0b013e3181df5e5b.

PMID:
20523244
10.

Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.

Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.

Hum Mol Genet. 2015 Dec 20;24(25):7349-60. doi: 10.1093/hmg/ddv435. Epub 2015 Oct 15.

PMID:
26472072
11.

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.

Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4. Spanish.

PMID:
25194980
12.

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.

Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. English, Spanish.

PMID:
22465605
13.

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14.

14.

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Siegel DH, McKenzie J, Frieden IJ, Rauen KA.

Br J Dermatol. 2011 Mar;164(3):521-9. doi: 10.1111/j.1365-2133.2010.10122.x. Epub 2011 Jan 28.

15.

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.

Terry J, Rauen KA, Nowaczyk MJ.

Pediatr Dev Pathol. 2014 Jan-Feb;17(1):59-63. doi: 10.2350/13-08-1365-CR.1. Epub 2013 Dec 4.

PMID:
24303953
16.

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.

Koudova M, Seemanova E, Zenker M.

Eur J Med Genet. 2009 Sep-Oct;52(5):337-40. doi: 10.1016/j.ejmg.2009.04.006. Epub 2009 May 4.

PMID:
19416762
17.

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.

Am J Med Genet A. 2006 Jan 1;140(1):8-16.

PMID:
16372351
18.

Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.

Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA.

Clin Genet. 2013 Jun;83(6):539-44. doi: 10.1111/cge.12005. Epub 2012 Sep 27.

19.

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.

Science. 2006 Mar 3;311(5765):1287-90. Epub 2006 Jan 26.

20.

Targeting BRAFV600E in thyroid carcinoma: therapeutic implications.

Mitsiades CS, Negri J, McMullan C, McMillin DW, Sozopoulos E, Fanourakis G, Voutsinas G, Tseleni-Balafouta S, Poulaki V, Batt D, Mitsiades N.

Mol Cancer Ther. 2007 Mar;6(3):1070-8.

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