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Items: 1 to 20 of 138

1.

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
2.

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
3.

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.

Am J Med Genet A. 2007 Apr 15;143A(8):799-807.

PMID:
17366577
4.

[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
5.

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
6.

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan.

Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11.

PMID:
22495831
7.

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.

8.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y.

Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.

PMID:
16474404
9.

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
10.

Orthopaedic conditions in Ras/MAPK related disorders.

Reinker KA, Stevenson DA, Tsung A.

J Pediatr Orthop. 2011 Jul-Aug;31(5):599-605. doi: 10.1097/BPO.0b013e318220396e.

PMID:
21654472
11.

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
12.

[Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].

Seemanová E, Zenker M.

Cas Lek Cesk. 2014;153(5):242-5. Czech.

PMID:
25370770
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.

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.

J Med Genet. 2007 Dec;44(12):763-71. Epub 2007 Aug 17.

15.

Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

Adachi M, Abe Y, Aoki Y, Matsubara Y.

Seizure. 2012 Jan;21(1):55-60. doi: 10.1016/j.seizure.2011.07.013. Epub 2011 Aug 25. Review.

16.

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.

17.

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
18.

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

Papadopoulou E, Sifakis S, Sol-Church K, Klein-Zighelboim E, Stabley DL, Raissaki M, Gripp KW, Kalmanti M.

Am J Med Genet A. 2011 Mar;155A(3):605-11. doi: 10.1002/ajmg.a.33787. Epub 2011 Feb 18. Review.

PMID:
21337689
19.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.

Clin Genet. 2008 Jan;73(1):62-70. Epub 2007 Nov 27.

PMID:
18042262
20.

Neurological complications of cardio-facio-cutaneous syndrome.

Yoon G, Rosenberg J, Blaser S, Rauen KA.

Dev Med Child Neurol. 2007 Dec;49(12):894-9.

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